NFE2L2 (NFE2 like bZIP transcription factor 2)

Gene

• Entrez ID: 4780
• Gene name: NFE2 like bZIP transcription factor 2
• Gene symbol: NFE2L2
• Synonyms (NCBI Gene): HEBP1, IMDDHH, NRF2, Nrf-2
• Disease Acronyms (UniProt): IMDDHH
• Chromosome: 2
• Chromosome location: 2q31.2
• Summary: This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these gene

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519920	C>A,G,T	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs1057519921	T>C	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs1057519922	C>G,T	Likely-pathogenic, pathogenic	Synonymous variant, missense variant, coding sequence variant, intron variant
rs1057519923	T>A	Likely-pathogenic	Missense variant, coding sequence variant, stop gained, intron variant
rs1057519924	C>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1553487942	C>T	Pathogenic	Intron variant, synonymous variant, coding sequence variant, missense variant
rs1553487947	G>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1553488015	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007310	hsa-miR-144-3p	Luciferase reporter assay	23236440
MIRT007310	hsa-miR-144-3p	Luciferase reporter assay	23236440
MIRT007311	hsa-miR-153-3p	Luciferase reporter assay	23236440
MIRT007312	hsa-miR-142-5p	Luciferase reporter assay	23236440
MIRT007313	hsa-miR-27a-3p	Luciferase reporter assay	23236440
MIRT028764	hsa-miR-26b-5p	Microarray	19088304
MIRT038563	hsa-miR-106b-3p	CLASH	23622248
MIRT440118	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT007313	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727087	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT440118	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT007313	hsa-miR-27a-3p	Western blot, Luciferase reporter assay, ChIP-seq,	25226451
MIRT007313	hsa-miR-27a-3p	Western blot, Luciferase reporter assay, ChIP-seq,	25226451
MIRT007311	hsa-miR-153-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	26116522
MIRT007311	hsa-miR-153-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	26116522
MIRT007310	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27508019
MIRT736387	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	33235064
MIRT1182549	hsa-miR-101	CLIP-seq
MIRT1182550	hsa-miR-129-5p	CLIP-seq
MIRT1182551	hsa-miR-144	CLIP-seq
MIRT1182552	hsa-miR-2355-3p	CLIP-seq
MIRT1182553	hsa-miR-3163	CLIP-seq
MIRT1182554	hsa-miR-340	CLIP-seq
MIRT1182555	hsa-miR-4646-3p	CLIP-seq
MIRT1182549	hsa-miR-101	CLIP-seq
MIRT1182556	hsa-miR-106a	CLIP-seq
MIRT1182557	hsa-miR-106b	CLIP-seq
MIRT1182558	hsa-miR-1202	CLIP-seq
MIRT1182559	hsa-miR-128	CLIP-seq
MIRT1182560	hsa-miR-1284	CLIP-seq
MIRT1182550	hsa-miR-129-5p	CLIP-seq
MIRT1182561	hsa-miR-132	CLIP-seq
MIRT1182562	hsa-miR-140-5p	CLIP-seq
MIRT1182551	hsa-miR-144	CLIP-seq
MIRT1182563	hsa-miR-153	CLIP-seq
MIRT1182564	hsa-miR-17	CLIP-seq
MIRT1182565	hsa-miR-20a	CLIP-seq
MIRT1182566	hsa-miR-20b	CLIP-seq
MIRT1182567	hsa-miR-212	CLIP-seq
MIRT1182552	hsa-miR-2355-3p	CLIP-seq
MIRT1182568	hsa-miR-23a	CLIP-seq
MIRT1182569	hsa-miR-23b	CLIP-seq
MIRT1182570	hsa-miR-23c	CLIP-seq
MIRT1182571	hsa-miR-27a	CLIP-seq
MIRT1182572	hsa-miR-27b	CLIP-seq
MIRT1182573	hsa-miR-28-5p	CLIP-seq
MIRT1182574	hsa-miR-3117-5p	CLIP-seq
MIRT1182575	hsa-miR-3139	CLIP-seq
MIRT1182576	hsa-miR-3140-3p	CLIP-seq
MIRT1182577	hsa-miR-3145-5p	CLIP-seq
MIRT1182553	hsa-miR-3163	CLIP-seq
MIRT1182554	hsa-miR-340	CLIP-seq
MIRT1182578	hsa-miR-3545-5p	CLIP-seq
MIRT1182579	hsa-miR-3609	CLIP-seq
MIRT1182580	hsa-miR-3613-3p	CLIP-seq
MIRT1182581	hsa-miR-369-3p	CLIP-seq
MIRT1182582	hsa-miR-374a	CLIP-seq
MIRT1182583	hsa-miR-374b	CLIP-seq
MIRT1182584	hsa-miR-376c	CLIP-seq
MIRT1182585	hsa-miR-3923	CLIP-seq
MIRT1182586	hsa-miR-3941	CLIP-seq
MIRT1182587	hsa-miR-3972	CLIP-seq
MIRT1182588	hsa-miR-3974	CLIP-seq
MIRT1182589	hsa-miR-421	CLIP-seq
MIRT1182590	hsa-miR-4272	CLIP-seq
MIRT1182591	hsa-miR-4460	CLIP-seq
MIRT1182592	hsa-miR-448	CLIP-seq
MIRT1182593	hsa-miR-450b-5p	CLIP-seq
MIRT1182555	hsa-miR-4646-3p	CLIP-seq
MIRT1182594	hsa-miR-466	CLIP-seq
MIRT1182595	hsa-miR-4661-5p	CLIP-seq
MIRT1182596	hsa-miR-4662a-5p	CLIP-seq
MIRT1182597	hsa-miR-4672	CLIP-seq
MIRT1182598	hsa-miR-4676-5p	CLIP-seq
MIRT1182599	hsa-miR-4738-3p	CLIP-seq
MIRT1182600	hsa-miR-4762-5p	CLIP-seq
MIRT1182601	hsa-miR-4776-3p	CLIP-seq
MIRT1182602	hsa-miR-4795-3p	CLIP-seq
MIRT1182603	hsa-miR-4796-3p	CLIP-seq
MIRT1182604	hsa-miR-499-3p	CLIP-seq
MIRT1182605	hsa-miR-499a-3p	CLIP-seq
MIRT1182606	hsa-miR-507	CLIP-seq
MIRT1182607	hsa-miR-519d	CLIP-seq
MIRT1182608	hsa-miR-522	CLIP-seq
MIRT1182609	hsa-miR-548a-5p	CLIP-seq
MIRT1182610	hsa-miR-548ab	CLIP-seq
MIRT1182611	hsa-miR-548ae	CLIP-seq
MIRT1182612	hsa-miR-548ah	CLIP-seq
MIRT1182613	hsa-miR-548aj	CLIP-seq
MIRT1182614	hsa-miR-548ak	CLIP-seq
MIRT1182615	hsa-miR-548am	CLIP-seq
MIRT1182616	hsa-miR-548b-5p	CLIP-seq
MIRT1182617	hsa-miR-548c-5p	CLIP-seq
MIRT1182618	hsa-miR-548d-5p	CLIP-seq
MIRT1182619	hsa-miR-548h	CLIP-seq
MIRT1182620	hsa-miR-548i	CLIP-seq
MIRT1182621	hsa-miR-548j	CLIP-seq
MIRT1182622	hsa-miR-548k	CLIP-seq
MIRT1182623	hsa-miR-548l	CLIP-seq
MIRT1182624	hsa-miR-548n	CLIP-seq
MIRT1182625	hsa-miR-548w	CLIP-seq
MIRT1182626	hsa-miR-548x	CLIP-seq
MIRT1182627	hsa-miR-548y	CLIP-seq
MIRT1182628	hsa-miR-556-5p	CLIP-seq
MIRT1182629	hsa-miR-557	CLIP-seq
MIRT1182630	hsa-miR-559	CLIP-seq
MIRT1182631	hsa-miR-561	CLIP-seq
MIRT1182632	hsa-miR-575	CLIP-seq
MIRT1182633	hsa-miR-582-5p	CLIP-seq
MIRT1182634	hsa-miR-606	CLIP-seq
MIRT1182635	hsa-miR-610	CLIP-seq
MIRT1182636	hsa-miR-633	CLIP-seq
MIRT1182637	hsa-miR-676	CLIP-seq
MIRT1182638	hsa-miR-708	CLIP-seq
MIRT1182639	hsa-miR-889	CLIP-seq
MIRT1182640	hsa-miR-93	CLIP-seq
MIRT1182560	hsa-miR-1284	CLIP-seq
MIRT1182563	hsa-miR-153	CLIP-seq
MIRT1182585	hsa-miR-3923	CLIP-seq
MIRT1182592	hsa-miR-448	CLIP-seq
MIRT1182593	hsa-miR-450b-5p	CLIP-seq
MIRT1182606	hsa-miR-507	CLIP-seq
MIRT1182629	hsa-miR-557	CLIP-seq
MIRT1182558	hsa-miR-1202	CLIP-seq
MIRT1182559	hsa-miR-128	CLIP-seq
MIRT1182560	hsa-miR-1284	CLIP-seq
MIRT1182550	hsa-miR-129-5p	CLIP-seq
MIRT1182563	hsa-miR-153	CLIP-seq
MIRT1182568	hsa-miR-23a	CLIP-seq
MIRT1182569	hsa-miR-23b	CLIP-seq
MIRT1182570	hsa-miR-23c	CLIP-seq
MIRT1182571	hsa-miR-27a	CLIP-seq
MIRT1182572	hsa-miR-27b	CLIP-seq
MIRT1182573	hsa-miR-28-5p	CLIP-seq
MIRT1182574	hsa-miR-3117-5p	CLIP-seq
MIRT1182575	hsa-miR-3139	CLIP-seq
MIRT1182576	hsa-miR-3140-3p	CLIP-seq
MIRT1182577	hsa-miR-3145-5p	CLIP-seq
MIRT1182554	hsa-miR-340	CLIP-seq
MIRT1182581	hsa-miR-369-3p	CLIP-seq
MIRT1182582	hsa-miR-374a	CLIP-seq
MIRT1182583	hsa-miR-374b	CLIP-seq
MIRT1182585	hsa-miR-3923	CLIP-seq
MIRT1182587	hsa-miR-3972	CLIP-seq
MIRT1182592	hsa-miR-448	CLIP-seq
MIRT1182593	hsa-miR-450b-5p	CLIP-seq
MIRT1182601	hsa-miR-4776-3p	CLIP-seq
MIRT1182602	hsa-miR-4795-3p	CLIP-seq
MIRT1182604	hsa-miR-499-3p	CLIP-seq
MIRT1182605	hsa-miR-499a-3p	CLIP-seq
MIRT1182606	hsa-miR-507	CLIP-seq
MIRT1182609	hsa-miR-548a-5p	CLIP-seq
MIRT1182610	hsa-miR-548ab	CLIP-seq
MIRT1182614	hsa-miR-548ak	CLIP-seq
MIRT1182616	hsa-miR-548b-5p	CLIP-seq
MIRT1182617	hsa-miR-548c-5p	CLIP-seq
MIRT1182618	hsa-miR-548d-5p	CLIP-seq
MIRT1182619	hsa-miR-548h	CLIP-seq
MIRT1182620	hsa-miR-548i	CLIP-seq
MIRT1182621	hsa-miR-548j	CLIP-seq
MIRT1182622	hsa-miR-548k	CLIP-seq
MIRT1182623	hsa-miR-548l	CLIP-seq
MIRT1182625	hsa-miR-548w	CLIP-seq
MIRT1182627	hsa-miR-548y	CLIP-seq
MIRT1182628	hsa-miR-556-5p	CLIP-seq
MIRT1182629	hsa-miR-557	CLIP-seq
MIRT1182630	hsa-miR-559	CLIP-seq
MIRT1182631	hsa-miR-561	CLIP-seq
MIRT1182635	hsa-miR-610	CLIP-seq
MIRT1182638	hsa-miR-708	CLIP-seq
MIRT1182559	hsa-miR-128	CLIP-seq
MIRT1182560	hsa-miR-1284	CLIP-seq
MIRT1182550	hsa-miR-129-5p	CLIP-seq
MIRT1182561	hsa-miR-132	CLIP-seq
MIRT1182563	hsa-miR-153	CLIP-seq
MIRT1182567	hsa-miR-212	CLIP-seq
MIRT1182568	hsa-miR-23a	CLIP-seq
MIRT1182569	hsa-miR-23b	CLIP-seq
MIRT1182570	hsa-miR-23c	CLIP-seq
MIRT1182571	hsa-miR-27a	CLIP-seq
MIRT1182572	hsa-miR-27b	CLIP-seq
MIRT1182573	hsa-miR-28-5p	CLIP-seq
MIRT1182574	hsa-miR-3117-5p	CLIP-seq
MIRT1182575	hsa-miR-3139	CLIP-seq
MIRT1182576	hsa-miR-3140-3p	CLIP-seq
MIRT1182577	hsa-miR-3145-5p	CLIP-seq
MIRT1182554	hsa-miR-340	CLIP-seq
MIRT1182581	hsa-miR-369-3p	CLIP-seq
MIRT1182582	hsa-miR-374a	CLIP-seq
MIRT1182583	hsa-miR-374b	CLIP-seq
MIRT1182585	hsa-miR-3923	CLIP-seq
MIRT1182586	hsa-miR-3941	CLIP-seq
MIRT1182589	hsa-miR-421	CLIP-seq
MIRT1182590	hsa-miR-4272	CLIP-seq
MIRT1182592	hsa-miR-448	CLIP-seq
MIRT1182593	hsa-miR-450b-5p	CLIP-seq
MIRT1182594	hsa-miR-466	CLIP-seq
MIRT1182596	hsa-miR-4662a-5p	CLIP-seq
MIRT1182597	hsa-miR-4672	CLIP-seq
MIRT1182598	hsa-miR-4676-5p	CLIP-seq
MIRT2282184	hsa-miR-4699-3p	CLIP-seq
MIRT1182602	hsa-miR-4795-3p	CLIP-seq
MIRT1182604	hsa-miR-499-3p	CLIP-seq
MIRT1182605	hsa-miR-499a-3p	CLIP-seq
MIRT2282185	hsa-miR-500a	CLIP-seq
MIRT2282186	hsa-miR-501-5p	CLIP-seq
MIRT1182606	hsa-miR-507	CLIP-seq
MIRT1182608	hsa-miR-522	CLIP-seq
MIRT1182609	hsa-miR-548a-5p	CLIP-seq
MIRT1182610	hsa-miR-548ab	CLIP-seq
MIRT1182614	hsa-miR-548ak	CLIP-seq
MIRT1182616	hsa-miR-548b-5p	CLIP-seq
MIRT1182617	hsa-miR-548c-5p	CLIP-seq
MIRT1182618	hsa-miR-548d-5p	CLIP-seq
MIRT1182619	hsa-miR-548h	CLIP-seq
MIRT1182620	hsa-miR-548i	CLIP-seq
MIRT1182621	hsa-miR-548j	CLIP-seq
MIRT1182622	hsa-miR-548k	CLIP-seq
MIRT1182623	hsa-miR-548l	CLIP-seq
MIRT1182625	hsa-miR-548w	CLIP-seq
MIRT1182627	hsa-miR-548y	CLIP-seq
MIRT1182628	hsa-miR-556-5p	CLIP-seq
MIRT1182629	hsa-miR-557	CLIP-seq
MIRT1182630	hsa-miR-559	CLIP-seq
MIRT1182631	hsa-miR-561	CLIP-seq
MIRT1182632	hsa-miR-575	CLIP-seq
MIRT1182633	hsa-miR-582-5p	CLIP-seq
MIRT1182636	hsa-miR-633	CLIP-seq
MIRT2282187	hsa-miR-634	CLIP-seq
MIRT1182637	hsa-miR-676	CLIP-seq
MIRT1182638	hsa-miR-708	CLIP-seq
MIRT1182560	hsa-miR-1284	CLIP-seq
MIRT1182574	hsa-miR-3117-5p	CLIP-seq
MIRT1182576	hsa-miR-3140-3p	CLIP-seq
MIRT1182577	hsa-miR-3145-5p	CLIP-seq
MIRT1182585	hsa-miR-3923	CLIP-seq
MIRT1182602	hsa-miR-4795-3p	CLIP-seq
MIRT1182631	hsa-miR-561	CLIP-seq
MIRT1182549	hsa-miR-101	CLIP-seq
MIRT1182559	hsa-miR-128	CLIP-seq
MIRT1182550	hsa-miR-129-5p	CLIP-seq
MIRT1182562	hsa-miR-140-5p	CLIP-seq
MIRT1182551	hsa-miR-144	CLIP-seq
MIRT1182563	hsa-miR-153	CLIP-seq
MIRT1182552	hsa-miR-2355-3p	CLIP-seq
MIRT1182568	hsa-miR-23a	CLIP-seq
MIRT1182569	hsa-miR-23b	CLIP-seq
MIRT1182570	hsa-miR-23c	CLIP-seq
MIRT1182571	hsa-miR-27a	CLIP-seq
MIRT1182572	hsa-miR-27b	CLIP-seq
MIRT1182573	hsa-miR-28-5p	CLIP-seq
MIRT1182574	hsa-miR-3117-5p	CLIP-seq
MIRT1182575	hsa-miR-3139	CLIP-seq
MIRT1182576	hsa-miR-3140-3p	CLIP-seq
MIRT1182577	hsa-miR-3145-5p	CLIP-seq
MIRT1182553	hsa-miR-3163	CLIP-seq
MIRT1182554	hsa-miR-340	CLIP-seq
MIRT1182578	hsa-miR-3545-5p	CLIP-seq
MIRT1182581	hsa-miR-369-3p	CLIP-seq
MIRT1182582	hsa-miR-374a	CLIP-seq
MIRT1182583	hsa-miR-374b	CLIP-seq
MIRT1182584	hsa-miR-376c	CLIP-seq
MIRT1182586	hsa-miR-3941	CLIP-seq
MIRT1182591	hsa-miR-4460	CLIP-seq
MIRT1182592	hsa-miR-448	CLIP-seq
MIRT1182593	hsa-miR-450b-5p	CLIP-seq
MIRT1182555	hsa-miR-4646-3p	CLIP-seq
MIRT1182594	hsa-miR-466	CLIP-seq
MIRT1182596	hsa-miR-4662a-5p	CLIP-seq
MIRT1182597	hsa-miR-4672	CLIP-seq
MIRT1182598	hsa-miR-4676-5p	CLIP-seq
MIRT1182602	hsa-miR-4795-3p	CLIP-seq
MIRT1182604	hsa-miR-499-3p	CLIP-seq
MIRT1182605	hsa-miR-499a-3p	CLIP-seq
MIRT1182606	hsa-miR-507	CLIP-seq
MIRT1182608	hsa-miR-522	CLIP-seq
MIRT1182609	hsa-miR-548a-5p	CLIP-seq
MIRT1182610	hsa-miR-548ab	CLIP-seq
MIRT1182614	hsa-miR-548ak	CLIP-seq
MIRT1182616	hsa-miR-548b-5p	CLIP-seq
MIRT1182617	hsa-miR-548c-5p	CLIP-seq
MIRT1182618	hsa-miR-548d-5p	CLIP-seq
MIRT1182619	hsa-miR-548h	CLIP-seq
MIRT1182620	hsa-miR-548i	CLIP-seq
MIRT1182621	hsa-miR-548j	CLIP-seq
MIRT1182622	hsa-miR-548k	CLIP-seq
MIRT1182623	hsa-miR-548l	CLIP-seq
MIRT1182625	hsa-miR-548w	CLIP-seq
MIRT1182627	hsa-miR-548y	CLIP-seq
MIRT1182628	hsa-miR-556-5p	CLIP-seq
MIRT1182629	hsa-miR-557	CLIP-seq
MIRT1182630	hsa-miR-559	CLIP-seq
MIRT1182631	hsa-miR-561	CLIP-seq
MIRT1182632	hsa-miR-575	CLIP-seq
MIRT1182633	hsa-miR-582-5p	CLIP-seq
MIRT1182635	hsa-miR-610	CLIP-seq
MIRT1182637	hsa-miR-676	CLIP-seq
MIRT1182638	hsa-miR-708	CLIP-seq
MIRT1182639	hsa-miR-889	CLIP-seq
MIRT1182574	hsa-miR-3117-5p	CLIP-seq
MIRT1182576	hsa-miR-3140-3p	CLIP-seq
MIRT1182577	hsa-miR-3145-5p	CLIP-seq
MIRT1182586	hsa-miR-3941	CLIP-seq
MIRT1182594	hsa-miR-466	CLIP-seq
MIRT1182597	hsa-miR-4672	CLIP-seq
MIRT1182602	hsa-miR-4795-3p	CLIP-seq
MIRT1182608	hsa-miR-522	CLIP-seq
MIRT1182631	hsa-miR-561	CLIP-seq
MIRT1182556	hsa-miR-106a	CLIP-seq
MIRT1182557	hsa-miR-106b	CLIP-seq
MIRT1182559	hsa-miR-128	CLIP-seq
MIRT1182560	hsa-miR-1284	CLIP-seq
MIRT1182563	hsa-miR-153	CLIP-seq
MIRT1182564	hsa-miR-17	CLIP-seq
MIRT1182565	hsa-miR-20a	CLIP-seq
MIRT1182566	hsa-miR-20b	CLIP-seq
MIRT1182568	hsa-miR-23a	CLIP-seq
MIRT1182569	hsa-miR-23b	CLIP-seq
MIRT1182570	hsa-miR-23c	CLIP-seq
MIRT1182571	hsa-miR-27a	CLIP-seq
MIRT1182572	hsa-miR-27b	CLIP-seq
MIRT1182573	hsa-miR-28-5p	CLIP-seq
MIRT1182574	hsa-miR-3117-5p	CLIP-seq
MIRT1182575	hsa-miR-3139	CLIP-seq
MIRT1182576	hsa-miR-3140-3p	CLIP-seq
MIRT1182577	hsa-miR-3145-5p	CLIP-seq
MIRT1182554	hsa-miR-340	CLIP-seq
MIRT1182579	hsa-miR-3609	CLIP-seq
MIRT1182580	hsa-miR-3613-3p	CLIP-seq
MIRT1182581	hsa-miR-369-3p	CLIP-seq
MIRT1182582	hsa-miR-374a	CLIP-seq
MIRT1182583	hsa-miR-374b	CLIP-seq
MIRT1182585	hsa-miR-3923	CLIP-seq
MIRT1182586	hsa-miR-3941	CLIP-seq
MIRT1182589	hsa-miR-421	CLIP-seq
MIRT1182590	hsa-miR-4272	CLIP-seq
MIRT1182592	hsa-miR-448	CLIP-seq
MIRT1182593	hsa-miR-450b-5p	CLIP-seq
MIRT1182594	hsa-miR-466	CLIP-seq
MIRT1182595	hsa-miR-4661-5p	CLIP-seq
MIRT1182597	hsa-miR-4672	CLIP-seq
MIRT1182599	hsa-miR-4738-3p	CLIP-seq
MIRT1182602	hsa-miR-4795-3p	CLIP-seq
MIRT1182603	hsa-miR-4796-3p	CLIP-seq
MIRT1182604	hsa-miR-499-3p	CLIP-seq
MIRT1182605	hsa-miR-499a-3p	CLIP-seq
MIRT1182606	hsa-miR-507	CLIP-seq
MIRT1182607	hsa-miR-519d	CLIP-seq
MIRT1182608	hsa-miR-522	CLIP-seq
MIRT1182609	hsa-miR-548a-5p	CLIP-seq
MIRT1182610	hsa-miR-548ab	CLIP-seq
MIRT1182611	hsa-miR-548ae	CLIP-seq
MIRT1182612	hsa-miR-548ah	CLIP-seq
MIRT1182613	hsa-miR-548aj	CLIP-seq
MIRT1182614	hsa-miR-548ak	CLIP-seq
MIRT1182615	hsa-miR-548am	CLIP-seq
MIRT1182616	hsa-miR-548b-5p	CLIP-seq
MIRT1182617	hsa-miR-548c-5p	CLIP-seq
MIRT1182618	hsa-miR-548d-5p	CLIP-seq
MIRT1182619	hsa-miR-548h	CLIP-seq
MIRT1182620	hsa-miR-548i	CLIP-seq
MIRT1182621	hsa-miR-548j	CLIP-seq
MIRT1182622	hsa-miR-548k	CLIP-seq
MIRT1182623	hsa-miR-548l	CLIP-seq
MIRT1182625	hsa-miR-548w	CLIP-seq
MIRT1182626	hsa-miR-548x	CLIP-seq
MIRT1182627	hsa-miR-548y	CLIP-seq
MIRT1182628	hsa-miR-556-5p	CLIP-seq
MIRT1182629	hsa-miR-557	CLIP-seq
MIRT1182630	hsa-miR-559	CLIP-seq
MIRT1182631	hsa-miR-561	CLIP-seq
MIRT1182633	hsa-miR-582-5p	CLIP-seq
MIRT1182634	hsa-miR-606	CLIP-seq
MIRT1182636	hsa-miR-633	CLIP-seq
MIRT1182637	hsa-miR-676	CLIP-seq
MIRT1182638	hsa-miR-708	CLIP-seq
MIRT1182640	hsa-miR-93	CLIP-seq
MIRT1182556	hsa-miR-106a	CLIP-seq
MIRT1182557	hsa-miR-106b	CLIP-seq
MIRT1182559	hsa-miR-128	CLIP-seq
MIRT1182560	hsa-miR-1284	CLIP-seq
MIRT1182563	hsa-miR-153	CLIP-seq
MIRT1182564	hsa-miR-17	CLIP-seq
MIRT1182565	hsa-miR-20a	CLIP-seq
MIRT1182566	hsa-miR-20b	CLIP-seq
MIRT1182568	hsa-miR-23a	CLIP-seq
MIRT1182569	hsa-miR-23b	CLIP-seq
MIRT1182570	hsa-miR-23c	CLIP-seq
MIRT1182571	hsa-miR-27a	CLIP-seq
MIRT1182572	hsa-miR-27b	CLIP-seq
MIRT1182573	hsa-miR-28-5p	CLIP-seq
MIRT1182574	hsa-miR-3117-5p	CLIP-seq
MIRT1182575	hsa-miR-3139	CLIP-seq
MIRT1182576	hsa-miR-3140-3p	CLIP-seq
MIRT1182577	hsa-miR-3145-5p	CLIP-seq
MIRT1182554	hsa-miR-340	CLIP-seq
MIRT1182579	hsa-miR-3609	CLIP-seq
MIRT1182580	hsa-miR-3613-3p	CLIP-seq
MIRT1182581	hsa-miR-369-3p	CLIP-seq
MIRT1182582	hsa-miR-374a	CLIP-seq
MIRT1182583	hsa-miR-374b	CLIP-seq
MIRT1182585	hsa-miR-3923	CLIP-seq
MIRT1182586	hsa-miR-3941	CLIP-seq
MIRT1182589	hsa-miR-421	CLIP-seq
MIRT1182590	hsa-miR-4272	CLIP-seq
MIRT1182592	hsa-miR-448	CLIP-seq
MIRT1182593	hsa-miR-450b-5p	CLIP-seq
MIRT1182594	hsa-miR-466	CLIP-seq
MIRT1182597	hsa-miR-4672	CLIP-seq
MIRT1182599	hsa-miR-4738-3p	CLIP-seq
MIRT1182602	hsa-miR-4795-3p	CLIP-seq
MIRT1182603	hsa-miR-4796-3p	CLIP-seq
MIRT1182604	hsa-miR-499-3p	CLIP-seq
MIRT1182605	hsa-miR-499a-3p	CLIP-seq
MIRT1182606	hsa-miR-507	CLIP-seq
MIRT1182607	hsa-miR-519d	CLIP-seq
MIRT1182608	hsa-miR-522	CLIP-seq
MIRT1182609	hsa-miR-548a-5p	CLIP-seq
MIRT1182610	hsa-miR-548ab	CLIP-seq
MIRT1182611	hsa-miR-548ae	CLIP-seq
MIRT1182612	hsa-miR-548ah	CLIP-seq
MIRT1182613	hsa-miR-548aj	CLIP-seq
MIRT1182614	hsa-miR-548ak	CLIP-seq
MIRT1182615	hsa-miR-548am	CLIP-seq
MIRT1182616	hsa-miR-548b-5p	CLIP-seq
MIRT1182617	hsa-miR-548c-5p	CLIP-seq
MIRT1182618	hsa-miR-548d-5p	CLIP-seq
MIRT1182619	hsa-miR-548h	CLIP-seq
MIRT1182620	hsa-miR-548i	CLIP-seq
MIRT1182621	hsa-miR-548j	CLIP-seq
MIRT1182622	hsa-miR-548k	CLIP-seq
MIRT1182623	hsa-miR-548l	CLIP-seq
MIRT1182625	hsa-miR-548w	CLIP-seq
MIRT1182626	hsa-miR-548x	CLIP-seq
MIRT1182627	hsa-miR-548y	CLIP-seq
MIRT1182628	hsa-miR-556-5p	CLIP-seq
MIRT1182629	hsa-miR-557	CLIP-seq
MIRT1182630	hsa-miR-559	CLIP-seq
MIRT1182631	hsa-miR-561	CLIP-seq
MIRT1182633	hsa-miR-582-5p	CLIP-seq
MIRT1182634	hsa-miR-606	CLIP-seq
MIRT1182636	hsa-miR-633	CLIP-seq
MIRT1182637	hsa-miR-676	CLIP-seq
MIRT1182638	hsa-miR-708	CLIP-seq
MIRT1182640	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	20452972
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	TAS	17015834, 24252804
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001102	Function	RNA polymerase II activating transcription factor binding	IPI	23043106
GO:0001221	Function	Transcription coregulator binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IDA	18554677
GO:0003700	Function	DNA-binding transcription factor activity	IDA	17015834, 20452972
GO:0005515	Function	Protein binding	IPI	15601839, 16888629, 17015834, 18048326, 18692475, 18757741, 19706542, 21597468, 21988832, 25416956, 26700459, 28777872, 29792731, 31169361, 31262713, 31515488, 32296183, 32911434
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	15601839, 18202225, 18554677, 22492997, 23043106
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	15601839, 22492997
GO:0005794	Component	Golgi apparatus	IDA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA	23043106
GO:0005886	Component	Plasma membrane	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006954	Process	Inflammatory response	IEA
GO:0007568	Process	Aging	IEA
GO:0010226	Process	Response to lithium ion	IEA
GO:0010499	Process	Proteasomal ubiquitin-independent protein catabolic process	IDA	19424503
GO:0010628	Process	Positive regulation of gene expression	IGI	22492997
GO:0010628	Process	Positive regulation of gene expression	IMP	27155659
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0016032	Process	Viral process	IEA
GO:0016567	Process	Protein ubiquitination	IDA	15983046
GO:0019904	Function	Protein domain specific binding	IPI	11256947
GO:0030194	Process	Positive regulation of blood coagulation	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	ISS
GO:0032993	Component	Protein-DNA complex	ISS
GO:0034599	Process	Cellular response to oxidative stress	IBA	21873635
GO:0034599	Process	Cellular response to oxidative stress	ISS
GO:0034599	Process	Cellular response to oxidative stress	NAS	22013210
GO:0034599	Process	Cellular response to oxidative stress	TAS	22934019
GO:0035690	Process	Cellular response to drug	IEA
GO:0036003	Process	Positive regulation of transcription from RNA polymerase II promoter in response to stress	IMP	23043106
GO:0036091	Process	Positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IEA
GO:0036499	Process	PERK-mediated unfolded protein response	ISS
GO:0036499	Process	PERK-mediated unfolded protein response	TAS	22934019
GO:0042149	Process	Cellular response to glucose starvation	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15983046
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	20452972
GO:0045454	Process	Cell redox homeostasis	IMP	29018201
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IC	22492997
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17015834
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18202225, 25190803
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0046223	Process	Aflatoxin catabolic process	IEA
GO:0046326	Process	Positive regulation of glucose import	IEA
GO:0061419	Process	Positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IMP	24844779
GO:0070301	Process	Cellular response to hydrogen peroxide	IMP	23043106
GO:0071280	Process	Cellular response to copper ion	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IMP	18202225
GO:0071498	Process	Cellular response to fluid shear stress	IDA	25190803
GO:0071499	Process	Cellular response to laminar fluid shear stress	IMP	23043106
GO:1902037	Process	Negative regulation of hematopoietic stem cell differentiation	IEA
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP	23043106
GO:1903071	Process	Positive regulation of ER-associated ubiquitin-dependent protein catabolic process	TAS	23800989
GO:1903206	Process	Negative regulation of hydrogen peroxide-induced cell death	IGI	22492997
GO:1903788	Process	Positive regulation of glutathione biosynthetic process	IEA
GO:1904385	Process	Cellular response to angiotensin	IEA
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	IEA
GO:2000121	Process	Regulation of removal of superoxide radicals	IEA
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IMP	23043106
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IEA

Other IDs

• MIM: 600492
• HGNC: 7782
• e!Ensembl: ENSG00000116044

Protein

• UniProt ID: Q16236
• Protein name: Nuclear factor erythroid 2-related factor 2 (NF-E2-related factor 2) (NFE2-related factor 2) (Nrf-2) (Nuclear factor, erythroid derived 2, like 2)
• Protein function: Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their exp
• PDB: 2FLU, 2LZ1, 3ZGC, 4IFL, 5WFV, 6T7V, 7K28, 7K29, 7K2A, 7K2B, 7K2C, 7K2D, 7K2E, 7K2K, 7O7B, 7X5E, 7X5F, 7X5G, 8EJR, 8EJS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03131	bZIP_Maf	468 → 561	bZIP Maf transcription factor	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highest expression in adult muscle, kidney, lung, liver and in fetal muscle. {ECO:0000269|PubMed:7937919}.
• Sequence:

  MMDLELPPPGLPSQQDMDLIDILWRQDIDLGVSREVFDFSQRRKEYELEKQKKLEKERQE
  QLQKEQEKAFFAQLQLDEETGEFLPIQPAQHIQSETSGSANYSQVAHIPKSDALYFDDCM
  QLLAQTFPFVDDNEVSSATFQSLVPDIPGHIESPVFIATNQAQSPETSVAQVAPVDLDGM
  QQDIEQVWEELLSIPELQCLNIENDKLVETTMVPSPEAKLTEVDNYHFYSSIPSMEKEVG
  NCSPHFLNAFEDSFSSILSTEDPNQLTVNSLNSDATVNTDFGDEFYSAFIAEPSISNSMP
  SPATLSHSLSELLNGPIDVSDLSLCKAFNQNHPESTAEFNDSDSGISLNTSPSVASPEHS
  VESSSYGDTLLGLSDSEVEELDSAPGSVKQNGPKTPVHSSGDMVQPLSPSQGQSTHVHDA
  QCENTPEKELPVSPGHRKTPFTKDKHSSRLEAHLTRDELRAKALHIPFPVEKIINLPVVD
  FNEMMSKEQFNEAQLALIRDIRRRGKNKVAAQNCRKRKLENIVELEQDLDHLKDEKEKLL
  KEKGENDKSLHLLKKQLSTLYLEVFSMLRDEDGKPYSPSEYSLQQTRDGNVFLVPKSKKP
  DVKKN

• Sequence length: 605

Pathways

KEGG:

Protein processing in endoplasmic reticulum
Parkinson disease
Pathways in cancer
Chemical carcinogenesis - reactive oxygen species
Hepatocellular carcinoma
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia, Sickle Cell	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	29255069
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	18572023
Carcinoma of the head and neck	Squamous cell carcinoma of the head and neck	rs121909237, rs121909250, rs121909251, rs121909252, rs28934571, rs28934574, rs28934576, rs28934578, rs121912664, rs397516436, rs121912666, rs397514495, rs587782705, rs193920774, rs730882001, rs786201838, rs587782144, rs866775781, rs730882008, rs1567549584, rs1597371666, rs1597365075	26619011
Cholestasis	Cholestasis, Extrahepatic, Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	30026087, 20977460
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Dermatitis	Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	23564646
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
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615	20530669
Esophagus neoplasm	Squamous cell carcinoma of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	25151357
Immunodeficiency, developmental delay, and hypohomocysteinemia	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	rs1057519922, rs1553487947, rs1553487942, rs1553488015	29018201
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	20605904
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Lung carcinoma	Non-Small Cell Lung Carcinoma, Squamous cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	22684020, 26482881, 26619011
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	26619011
Mental retardation	Mild Mental Retardation	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
Premature ovarian failure	Hypergonadotropic Ovarian Failure, X-Linked, Premature Ovarian Failure 1	rs587776535, rs71647804, rs137853320, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208, rs80359775, rs397507719, rs200503569, rs587777267, rs730880018, rs587777268, rs587777269, rs587777270, rs201840174, rs587778428, rs41293513, rs200928781, rs587777871, rs587777872, rs606231343, rs672601359, rs193303102, rs193303103, rs193303104, rs138761187, rs869320753, rs869320765, rs878854403, rs875989810, rs875989885, rs876657679, rs1057517779, rs764841861, rs1057519602, rs147021911, rs1060505055, rs376787666, rs1554721235, rs1553752779, rs1553752894, rs144567652, rs1216260561, rs900140738, rs1560311010, rs1060502376, rs1001164504, rs1031011371, rs1596591051, rs1218620893, rs201115244, rs377712900, rs1800917478	26247513
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	20124447, 23441843
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578	23570914
Renal carcinoma	Renal Cell Carcinoma	rs121913668, rs121913670, rs121913243, rs786202724	26619011

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure		28373008	ClinVar
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided		28373008	ClinVar
Myocardial infarction	Myocardial Failure		28373008	ClinVar
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	immunodeficiency, developmental delay, and hypohomocysteinemia			GenCC
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	36065437
Acute Aortic Syndrome	Associate	34336095
Acute Disease	Associate	36193742
Acute Kidney Injury	Associate	33491566, 35569444, 36594097
Acute Lung Injury	Associate	35910848, 36430900, 36913799
Adenocarcinoma	Associate	19643729, 21489257, 24040073, 26336083, 27824809, 31828882, 33101586, 33887608, 36035281, 39261459
Adenocarcinoma of Lung	Associate	24040073, 25878335, 26385919, 33219256, 33229301, 33299528, 34205320, 34617407, 35184380, 35351670, 35633885, 36504353, 36604642, 37245083, 38241355, 40427585
Adenocarcinoma Papillary	Associate	21248763, 24528044
Adenoma Pleomorphic	Associate	25928388
Adenomyosis	Associate	28817677
Adrenocortical Carcinoma	Associate	33101586, 35467062
Aging Premature	Associate	40280313
Aicardi Syndrome	Associate	35467062
AIDS Related Complex	Associate	39796164
Airway Remodeling	Associate	35673765
Alzheimer Disease	Associate	17204939, 23864927, 28349780, 30068908, 31175839, 33605427, 33633844, 34837964, 36035216, 36065437, 37511065, 40363853
Alzheimer Disease	Inhibit	22077634
Amyotrophic Lateral Sclerosis	Associate	24672634
Anemia Hemolytic	Associate	30755497
Anemia Sickle Cell	Associate	27071063, 30412705
Anemia Sickle Cell	Stimulate	30060095
Ankle Fractures	Associate	30237391
Anophthalmia with pulmonary hypoplasia	Associate	37852325
Antiphospholipid Syndrome	Associate	22529290
Aortic Aneurysm Thoracic	Associate	32273946
Arthritis Rheumatoid	Associate	11429414, 35432723, 35759235, 36814154
Arthritis Rheumatoid	Stimulate	33426091, 36574898
Asthenozoospermia	Associate	26823733
Asthma	Associate	21514635, 21799075, 26344081, 33382170, 35278062, 35572500
Asthma	Inhibit	31391381
Astrocytoma	Associate	37371062
Ataxia Telangiectasia	Associate	27636396, 31107893
Atherosclerosis	Associate	15917255, 16339837, 17673673, 24790085, 34951407
Autism Spectrum Disorder	Associate	30120881, 36980990
Autism Spectrum Disorder	Inhibit	34517051
Autistic Disorder	Associate	34517051, 36980990
Autoimmune Diseases	Associate	38062233
Bacterial Infections	Associate	33128253
Barrett Esophagus	Associate	33887608
beta Thalassemia	Associate	31276102
Biliary Tract Neoplasms	Associate	31590928
Bone Diseases	Associate	38065271
Bone Diseases Metabolic	Associate	37393640
Brain Edema	Associate	31574956
Brain Injuries	Associate	36506933, 37098490
Brain Injuries Traumatic	Associate	27530814
Brain Ischemia	Associate	34336095
Brain Neoplasms	Associate	27187376
Breast Neoplasms	Associate	21489257, 21926171, 23172368, 23347118, 23875900, 24366869, 25154499, 25226504, 25467193, 25717032, 25827424, 25976679, 27088857, 27713154, 27770790, 28277986, 28416489, 28429737, 29649567, 29729523, 30241031, 30553016, 30803422, 30809937, 31078780, 31696480, 33101586, 33801351, 34147842, 34363748, 36213577, 37090185, 37175972, 37827129, 37910519, 39874013, 40660243
Breast Neoplasms	Inhibit	21799005
Bronchopulmonary Dysplasia	Associate	25518008, 33552042, 37060021
Calcinosis	Associate	31316111
Calcinosis	Stimulate	38063237
Calcinosis Cutis	Associate	35194221
Carcinogenesis	Associate	21228930, 21990354, 23710289, 23947958, 25502816, 25505069, 25841766, 25995248, 26226105, 26247201, 26350055, 26385919, 26497117, 28261610, 28330870, 28835697, 29306329, 30195190, 30803422, 31687076, 31884422, 32394538, 33123313, 33390848, 33446568, 33754045, 34987184, 35438056, 36070895, 36209041, 37401495
Carcinoid Tumor	Associate	31126053
Carcinoma Adenoid Cystic	Associate	26350055, 35524269
Carcinoma Basal Cell	Associate	27057281, 30064139
Carcinoma Endometrioid	Associate	21897267
Carcinoma Hepatocellular	Associate	22561517, 23728943, 24203292, 25896253, 26194347, 26583321, 27091842, 27650414, 30057686, 30075149, 31968140, 32774674, 32780006, 33101586, 33290263, 33299528, 33770521, 33931597, 34069882, 34299031, 34473785, 34482117, 34687175, 34921137, 35208536, 35271462, 35466502, 35733794, 36419136, 36899918, 36964576, 37171695, 38251077
Carcinoma Large Cell	Associate	31828882
Carcinoma Medullary	Associate	37236926
Carcinoma Non Small Cell Lung	Associate	17020408, 19345732, 20534738, 20682644, 22089114, 22684020, 26497680, 26711467, 27552339, 27601007, 27824809, 28402268, 28501854, 28965760, 30287928, 30825187, 31329868, 31455821, 31828882, 31884422, 31899687, 32184217, 32255482, 32272498, 32394538, 32855269, 32898818, 33071215, 33219226, 33416106, 35184380, 35314779, 35534896, 36082356, 37258589, 37473958, 37633973, 38241355, 40007122
Carcinoma Non Small Cell Lung	Stimulate	32704041
Carcinoma Ovarian Epithelial	Associate	26191276
Carcinoma Pancreatic Ductal	Associate	26497117, 26915435, 27167341, 31243599
Carcinoma Pancreatic Ductal	Stimulate	32629871
Carcinoma Renal Cell	Stimulate	21228930
Carcinoma Renal Cell	Associate	25564569, 28061437, 30896860, 31752777, 32830535, 33101586, 33850477, 33953831, 34949764, 37898101, 38583003
Carcinoma Squamous Cell	Associate	18757741, 20421815, 23451093, 24323028, 24390348, 26503331, 27824809, 28177435, 30058679, 31221127, 31828882, 32036209, 32272498, 32434476, 33219256, 33229301, 34212035, 35351670, 36305267, 36867945, 38052215
Carcinoma Squamous Cell	Stimulate	26247201
Cardiomyopathies	Associate	35383293
Cardiotoxicity	Associate	35579950
Cardiovascular Diseases	Associate	23974919, 24790085, 32780748, 36012132, 37116256
Cartilage Diseases	Inhibit	23072510
Cartilage Diseases	Associate	29339024, 38063237
Cataract	Associate	24525405, 33274006
CDKL5 deficiency disorder	Associate	26006105
Cell Transformation Neoplastic	Associate	26915435
Cerebral Hemorrhage	Associate	33955515
Cerebral Infarction	Associate	35856366, 37983626, 40681605, 40718775
Cerebrovascular Disorders	Associate	27226772
Chagas Disease	Associate	23316324
Chemical and Drug Induced Liver Injury	Associate	23567851, 29106686, 31221142, 31276102
Cholangiocarcinoma	Associate	21577322, 24528044, 27015836, 35092379, 36111744
Cholangitis Sclerosing	Associate	29180269
Cholestasis Intrahepatic	Associate	34767876
Chronic Disease	Associate	33149584
Chronic Kidney Disease Mineral and Bone Disorder	Inhibit	28343144
Chronic Kidney Disease Mineral and Bone Disorder	Associate	31102786
Chronic Limb Threatening Ischemia	Inhibit	25977470
Chronic Periodontitis	Associate	23826097
Cognition Disorders	Associate	29630901
Cognitive Dysfunction	Associate	26204833
Colitis Associated Neoplasms	Associate	25078150
Colitis Ulcerative	Associate	29941222
Colonic Neoplasms	Associate	19706542, 27143122, 32004978, 33101586, 33838628
Colorectal Neoplasms	Associate	22529978, 24695690, 25431258, 27259240, 27323826, 27999449, 30778200, 30988303, 31078780, 31366086, 32323779, 32871287, 33754045, 34443375, 35429118, 36038548, 36050500, 36100939, 36113636, 36539411, 36869896, 37077308, 37658132, 37732511, 37875418
Colorectal Neoplasms	Stimulate	32992842
Copper deficiency familial benign	Associate	37060021
Corneal endothelial dystrophy type 2	Inhibit	28642546
Coronary Artery Disease	Associate	31340238, 34336095
Corticobasal Degeneration	Associate	35976433
COVID 19	Associate	33009401, 35361071, 35855804, 36498845, 36613859, 37747932, 38003341, 40052887
COVID 19	Inhibit	35112323, 37327001
COVID 19	Stimulate	36493512
Crohn Disease	Associate	33882797
Death	Associate	24790085, 27091842
Demyelinating Diseases	Associate	26087903, 29096692
Dermatitis Atopic	Inhibit	36108803
Diabetes Gestational	Inhibit	23974919
Diabetes Mellitus	Associate	22445099, 25674242, 27274779, 30803422
Diabetes Mellitus	Inhibit	25383674
Diabetes Mellitus Type 2	Associate	23974919, 25511473, 26204833, 27274779, 27374075, 35365152
Diabetes Mellitus Type 2	Stimulate	26536169
Diabetes Mellitus Type 2	Inhibit	33096729
Diabetic Cardiomyopathies	Associate	25674242
Diabetic Foot	Associate	32879654, 33096729
Diabetic Nephropathies	Associate	30783799, 31467925, 34894983
Diabetic Nephropathies	Inhibit	33565572, 35933424
Diabetic Retinopathy	Associate	32473920, 32698791, 36795778, 37713847
Disease	Associate	26270818
Disease Resistance	Associate	35157996
DNA Virus Infections	Associate	30662338, 31013932, 33087706
Down Syndrome	Associate	33633844
Drug Related Side Effects and Adverse Reactions	Associate	19345732, 22342995, 22476201, 23187004, 23710286, 23766854, 24046186, 25003661, 25226504, 25896339, 26238954, 26770651, 27345270, 27369375, 29540636, 29729523, 31776385, 31828882, 32255482, 35466502, 36539411, 36555089, 37939567, 40226625
Drug Related Side Effects and Adverse Reactions	Inhibit	25851054
Drug Resistant Epilepsy	Associate	25976679
Early onset ataxia with oculomotor apraxia and hypoalbuminemia	Associate	25976310
Emphysema	Associate	19671143, 22163265, 27555763
Endometrial Neoplasms	Associate	21228930, 21897267, 26824415, 30908539
Endometriosis	Associate	38062233
Epilepsy	Associate	34588521, 37946105
Epilepsy Temporal Lobe	Associate	37946105
Epiretinal Membrane	Associate	36567907
Epstein Barr Virus Infections	Associate	35105963
Esophageal Neoplasms	Associate	26341629, 32012470, 34663841, 36116599
Esophageal Squamous Cell Carcinoma	Associate	26336083, 26341629, 26873401, 27734031, 27749841, 28760781, 29142225, 29675925, 31287493, 31755241, 32012470, 32398863, 33826001, 34263978, 34663841, 34761715, 35194221, 36070895, 36584672, 37312528
Esophagitis	Associate	36070895
Failure to Thrive	Associate	29018201
Familial cylindromatosis	Associate	26336083, 33826001
Farber Lipogranulomatosis	Associate	27567474
Fatty Liver	Stimulate	24718268
Fatty Liver Alcoholic	Associate	37732511
Fetal Growth Retardation	Associate	23056578, 35216082
Fever	Associate	32255482
Fibrocartilaginous embolism	Associate	33478594, 33603950
Fibrosis	Associate	30028880, 37091902, 37732511, 37924785
Fowler Christmas Chapple syndrome	Associate	36070895
Friedreich Ataxia	Associate	19158945, 31640150, 37919861
Frontotemporal Lobar Degeneration	Associate	27554286
Fuchs' Endothelial Dystrophy	Associate	22836768, 24030461, 31857234
Gallbladder Neoplasms	Associate	32432738, 32839463
Gastroesophageal Reflux	Associate	31132430
Gastroesophageal Reflux	Stimulate	33887608
Glaucoma	Associate	26191170
Glioblastoma	Associate	25226504, 25304134, 30353492, 31037147, 32203214, 32617133, 33271924, 35803910, 35962317, 38241776, 40684395
Glioma	Associate	25304134, 25851054, 27187376, 28427200, 29414774, 30942197, 32484805, 33101586, 33760110, 33801310, 34815381, 35803910, 36231068, 39248438, 40355831
Glucagonoma	Associate	34951143
Glucocorticoid Receptor Deficiency	Associate	34091451
Glucosephosphate Dehydrogenase Deficiency	Associate	33521822
Goiter	Associate	32824922
HAIR AN syndrome	Stimulate	35733794
Head and Neck Neoplasms	Associate	27638861, 33859744, 33916908, 34479919, 35806488, 36139430, 38132173
Hearing Loss Sensorineural	Associate	34091451
Heart Defects Congenital	Associate	35035663
Heart Diseases	Associate	23316324
Heart Failure	Associate	32620106
Hemangioma Cavernous Central Nervous System	Associate	34588521
Hematoma	Associate	30836997
Hemochromatosis	Associate	31276102
Hemoglobinopathies	Associate	21464371
Hemolytic Uremic Syndrome	Inhibit	39510246
Hemorrhage	Associate	21868703
Hepatitis C	Associate	24718268, 29940898
Hepatitis C	Stimulate	24811996
Hepatitis C Chronic	Associate	24811996, 30929321, 37732511
Hepatoblastoma	Associate	30287928, 32240714, 33125945
Hereditary Breast and Ovarian Cancer Syndrome	Associate	27713154
Hereditary leiomyomatosis and renal cell cancer	Associate	33931688
HIV Infections	Inhibit	27093399
Huntington Disease	Associate	40336225
Hyperglycemia	Associate	18633117, 27542238, 32369110
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	27345270
Hyperoxia	Stimulate	23738042
Hyperoxia	Associate	26465873
Hypertension	Associate	27226772, 37154169
Hypertension Pregnancy Induced	Associate	39503530
Hypoglycemia	Associate	25807533
hypoglycemic encephalopathy	Inhibit	25807533
Hypopharyngeal Neoplasms	Associate	33635505
Hypoxia	Stimulate	20197421, 27566589, 34162953, 35417854
Hypoxia	Associate	24063008, 30241031, 31078780, 33290263, 33326735, 33441543, 33491566, 35409364, 35833819, 36082356, 36481701, 36709476, 36791645
Hypoxia	Inhibit	32978975
Hypoxia Brain	Associate	29540636, 31078780, 33491566, 35417854
Ichthyosis Vulgaris	Stimulate	20664557
Idiopathic Noncirrhotic Portal Hypertension	Inhibit	28333129
Immunologic Deficiency Syndromes	Associate	29018201, 35300626
Infections	Associate	28835697, 30755497, 32879654
Infertility Male	Associate	23089668
Inflammation	Inhibit	11429414, 16339837, 21605660, 27660013, 30180849, 33222465
Inflammation	Associate	20011043, 21605660, 21990354, 22312316, 23710289, 25109682, 25585822, 25847254, 26222138, 26227162, 26369337, 26410779, 26624249, 26823953, 26915435, 27450419, 27591243, 27863411, 28237856, 28456799, 29232919, 30237391, 30273379, 30466076, 30504721, 31102786, 31340446, 31340563, 31429757, 31669760, 32273683, 32434476, 32473920, 32879654, 33009401, 33096729, 33101586, 33245515, 33340902, 33355373, 33443817, 33581965, 34073317, 34212035, 34252790, 34335088, 34590155, 35112323, 35268019, 35409364, 35572500, 35730622, 35740891, 35759235, 35775321, 36012132, 36035216, 36234773, 36361795, 36432484, 36574898, 37314658, 37401495, 37446045, 37732511, 37851686, 37922650, 38367463, 39287687, 39962463
Inflammatory Bowel Diseases	Associate	25078150, 28349780
Influenza Human	Associate	35019712
Insulin Resistance	Associate	26204833, 30273379, 30466006, 32879654, 37768516
Intervertebral Disc Degeneration	Associate	32320383, 32844924, 38063237
Iron Overload	Associate	32278200, 37768516
Ischemia	Associate	32780006
Keratoconus	Inhibit	32555404
Keratoconus	Associate	36240204
Kidney Calculi	Associate	36907445
Kidney Diseases	Associate	28061437, 29959986, 38304428
Kidney Failure Chronic	Associate	31340563, 32661200, 32871287
Kidney Failure Chronic	Stimulate	32660150
Kidney Neoplasms	Associate	28061437, 37898101
Laryngeal Neoplasms	Associate	25631445, 27840932
Leiomyoma	Associate	26787895
Leukemia	Associate	20345481, 32293500, 35840666, 36453238, 36528059
Leukemia Lymphocytic Chronic B Cell	Associate	20368435, 31992855
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	31828114, 40565143
Leukemia Myeloid	Associate	21099366
Leukemia Myeloid Acute	Associate	18202225, 20345481, 21099366, 23077289, 25003661, 28505160, 30623427, 35840666, 36061350, 36303144
Leukemia Myeloid Acute	Stimulate	33202543, 36528059
Leukemia Promyelocytic Acute	Associate	29597191
Leukoencephalopathies	Associate	26087903, 29018201
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	Associate	40185339
Leydig Cell Tumor	Associate	38387140
Liver Cirrhosis	Associate	28665955, 37924785
Liver Cirrhosis	Inhibit	30929321
Liver Cirrhosis Biliary	Inhibit	28333129
Liver Diseases	Associate	37732511
Liver Diseases Alcoholic	Associate	31340446
Liver Failure	Associate	30466006, 33162398, 37924785
Liver Neoplasms	Associate	29940898, 34069882, 34985276
Loeys Dietz Syndrome	Associate	32273946
Lumbar Stenosis Familial	Associate	37091902
Lung Diseases	Associate	26465873, 27591243, 27824809, 29703138, 31947722
Lung Diseases Interstitial	Stimulate	36574898
Lung Injury	Associate	21401388, 22163265, 22693272, 26465873, 35847598
Lung Neoplasms	Associate	20421815, 20682644, 23947958, 24040073, 24046186, 24928441, 26134408, 26343532, 27347930, 27824809, 28330870, 28349780, 28939896, 28965760, 29089357, 29474635, 30150714, 30396235, 31126053, 31227482, 31776385, 31828882, 32255482, 32571982, 32855269, 33071215, 33128871, 33139492, 33219256, 34211631, 35184380, 35331302, 35351670, 35368077, 35898682, 36082356, 36264074, 36476246, 36989612, 37749553, 38169561, 40280313
Lupus Erythematosus Systemic	Associate	30466076
Lupus Nephritis	Associate	38304428
Lymphatic Metastasis	Stimulate	25588809, 29716554, 36951264
Lymphatic Metastasis	Associate	26410168, 28501854, 34264023, 37312528
Lymphoma	Associate	24915933, 34239803, 37511362
Lymphoma Large B Cell Diffuse	Associate	30755497
Lymphoma Mantle Cell	Associate	21712452
Lymphoma Primary Effusion	Associate	30586869
Lymphoma T Cell	Associate	34239803
Macular Degeneration	Associate	23276910, 24440594
Malaria Cerebral	Associate	30060095
Malignant mesenchymal tumor	Inhibit	30031728
Medulloblastoma	Associate	36631900
Melanoma	Associate	24260504, 31687076, 33573155, 33684228, 33769711, 33916908, 34951143, 36050469, 38092271
Memory Disorders	Associate	32661200
Meningioma	Associate	27187376
Mesothelioma	Associate	23187004
Mesothelioma Malignant	Associate	25896339
Metabolic Syndrome	Associate	31366177, 35365152, 37836390
Metabolic Syndrome	Stimulate	38069389
Mitochondrial Diseases	Associate	22077634, 27091842, 27322610, 27345270, 28277986, 30057686, 34214916, 35944738, 36108803, 39370298, 40185339
Mitochondrial Diseases	Inhibit	29339024, 31078780
Mitochondrial Diseases	Stimulate	38063237
Mouth Diseases	Stimulate	25505069
Multiple Myeloma	Associate	25669983, 26220195, 26483548, 27626179, 31423010, 39273003
Multiple Organ Failure	Associate	36613859
Multiple Sclerosis	Associate	26087903, 30063300, 37919861
Multiple Sclerosis Relapsing Remitting	Associate	33354282
Multiple System Atrophy	Associate	29018201
Myocarditis	Associate	36128875
Myopathy with Giant Abnormal Mitochondria	Associate	36525817
Nasopharyngeal Carcinoma	Associate	36947579
Necrosis	Inhibit	25226504
Necrosis	Associate	26087903, 32102665, 35741045
Neoplasm Metastasis	Associate	25431258, 26194347, 28260828, 28402268, 29474635, 30553016, 31968140, 32272498, 35031788, 35208536, 36203561, 37024798, 37312528
Neoplasm Metastasis	Stimulate	27713154, 31752777
Neoplasm Metastasis	Inhibit	27999449
Neoplasms	Associate	17020408, 18413364, 18757741, 19608619, 19844581, 20421815, 20440267, 20511222, 20682644, 20707922, 21228930, 21248763, 21489257, 21656528, 21712452, 21799005, 21878644, 21897267, 21969819, 22302998, 22325485, 22342995, 22684020, 22848562, 22960745, 23077289, 23667609, 23672216, 24040073, 24046186, 24175806, 24322982, 24380881, 24528044, 25040994, 25226504, 25304134, 25323587, 25467193, 25588809, 25717032, 25841766, 25994056, 26191276, 26194347, 26208877, 26220195, 26247201, 26341629, 26410168, 26711467, 26770651, 26915435, 27015836, 27023064, 27187376, 27567474, 27568559, 27713148, 27749841, 27770790, 27824809, 28061437, 28261610, 28319891, 28330870, 28349780, 28402268, 28501854, 28760781, 28965760, 29018201, 29033244, 29061583, 29306329, 29410730, 29416012, 29474635, 29716554, 29729523, 29973599, 30042301, 30150714, 30180849, 30195190, 30273379, 30287928, 30309986, 30597961, 30908539, 30972876, 30987009, 31010806, 31126053, 31159323, 31250159, 31378590, 31395880, 31752777, 31776385, 31828114, 31828882, 31884422, 32001619, 32184217, 32226544, 32272498, 32273683, 32394538, 32484805, 32571982, 32593231, 32605658, 32863227, 32871287, 32879654, 32992842, 33071215, 33101586, 33128871, 33139492, 33219226, 33229301, 33299528, 33441543, 33573155, 33760110, 33765617, 33769711, 33838628, 33859744, 33892113, 33992811, 34014604, 34212035, 34263978, 34264023, 34473785, 34687175, 34951143, 35031788, 35058282, 35101864, 35184380, 35194221, 35208536, 35242279, 35314779, 35417854, 35429118, 35467062, 35534896, 35697292, 35803910, 35805773, 35806488, 35855804, 35945195, 36100939, 36116599, 36213577, 36359002, 36497150, 36504353, 36539411, 36724221, 36791645, 36867945, 36869896, 37024798, 37079050, 37175972, 37312528, 37401495, 37658132, 37716475, 37827129, 37839356, 37889752, 37898426, 37958895, 37964489, 38184997, 38241355, 38241776, 39261459, 39955067, 40127850
Neoplasms	Stimulate	25427220, 26536169, 29565554, 32558263, 32824922, 36209041, 37473958, 37768308
Neoplasms	Inhibit	26226105, 30942197, 32398863, 37852325
Neoplasms Adipose Tissue	Associate	37768516
Neoplasms Squamous Cell	Associate	21969819, 23980093, 25994056, 32571982, 36071046, 36305267
Nerve Degeneration	Associate	32319645, 35833819
Nerve Degeneration	Stimulate	38063237
Neuralgia	Associate	33834930
Neuroblastoma	Associate	14985350, 22342995, 27023064
Neurocognitive Disorders	Associate	26895301, 30159112
Neurodegenerative Diseases	Associate	17204939, 20196834, 23710289, 27554286, 29927029, 30273379, 31010806, 32672401, 36131631, 37919861
Neuroendocrine Tumors	Associate	31126053
Neuroinflammatory Diseases	Associate	34252790, 36523959
Neurologic Manifestations	Associate	29018201
Neurotoxicity Syndromes	Associate	24866057, 28790819, 31362587, 32377295
Niemann Pick Disease Type C	Associate	33204320
Non alcoholic Fatty Liver Disease	Associate	37367685
Obesity	Associate	25670728, 27274779, 27866025, 28277986, 30273379, 31366177
Obesity	Stimulate	33765617, 37858747
Oncogene Addiction	Associate	28835697
Osteoarthritis	Associate	27863411, 28237856, 29339024, 37269815
Osteoglophonic dwarfism	Stimulate	33355373
Osteoglophonic dwarfism	Inhibit	35609324
Osteoglophonic dwarfism	Associate	40289338
Osteosarcoma	Associate	26283888, 29061583, 31941496, 34109575, 36965071, 37353812
Ovarian Neoplasms	Associate	24817946, 25114896, 25717032, 25841766, 26770651, 27713148, 28112439, 29410730, 30319732, 30597961, 33294122, 36724221, 37834202
Ovarian Neoplasms	Inhibit	35059466
Overweight	Associate	27866025
Overweight	Stimulate	33765617, 37858747
Pain	Associate	33834930
Pancreatic Neoplasms	Associate	20118824, 21489257, 25879528, 26497117, 27167341, 27756327, 28052097, 29701272, 29765509, 30972876, 31609478, 31785531, 33101586, 33446568, 35915609, 36497150, 37852325
Pancreatitis	Associate	26915435
Pancreatitis Chronic	Associate	26226105
Paraganglioma	Associate	35300626
Parkinson Disease	Associate	16092930, 17204939, 20196834, 21747966, 26010367, 28349780, 29630901, 32784741, 33539026, 37371062
Parkinson Disease	Inhibit	29338172
Pediatric Obesity	Associate	25518008
Periodontitis	Associate	37215133
Peripheral Arterial Disease	Associate	29540636
Peripheral Nervous System Diseases	Associate	30593978
Peritonitis	Stimulate	24204994
Personality Disorders	Associate	32240714
Pheochromocytoma	Associate	35300626
Pneumocystis Infections	Inhibit	33128253
Pneumonia	Associate	34934311
Pneumothorax	Inhibit	28962820
Polycystic Ovary Syndrome	Stimulate	36322230
Post Acute COVID 19 Syndrome	Associate	37373377
Pre Eclampsia	Associate	22791762, 23056578, 33725925, 35190654, 35216082
Precancerous Conditions	Associate	22302998, 24919441
Precancerous Conditions	Stimulate	33859744
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	25323587, 26991755, 37373496
Preeclamptic toxemia	Inhibit	22791762
Primary Graft Dysfunction	Associate	25439478
Progeria	Associate	28229933
Prostate Cancer Hereditary 7	Associate	39837010
Prostatic Hyperplasia	Associate	33416009
Prostatic Neoplasms	Associate	20682644, 24466341, 27788496, 30106110, 31389609, 33356808, 34163028, 34987184, 35438056, 36035281, 36295574, 36376959, 36517760, 39837010
Prostatic Neoplasms Castration Resistant	Associate	24466341
Prostatic Neoplasms Castration Resistant	Stimulate	36376959
Pterygium	Associate	30563490
Pulmonary Disease Chronic Obstructive	Associate	20534903, 24790085, 27555763, 27832175, 31238128, 31429757, 34934311, 35441963, 36724365
Pulmonary Disease Chronic Obstructive	Inhibit	26861788, 32000766, 33967623
Radiation Injuries	Associate	38169561
Rectal Neoplasms	Associate	37401495
Renal Insufficiency Chronic	Associate	28785379, 31340563, 31432706, 35871941
Reperfusion Injury	Associate	31669760, 33355373
Respiratory Distress Syndrome	Associate	26077880
Respiratory Insufficiency	Associate	20534903
Respiratory Syncytial Virus Infections	Associate	31947722
Respiratory System Abnormalities	Associate	25585822
Retinitis	Associate	31669760
Retrograde Degeneration	Associate	35917404
Rhabdoid Tumor	Associate	37079050
Rheumatic Fever	Associate	40226625
Ring Chromosome 20 Syndrome	Stimulate	23305329
Ring Chromosome 20 Syndrome	Inhibit	33355373
Rufous oculocutaneous albinism	Associate	33992811
Sarcoma Kaposi	Associate	25340789
Sarcopenia	Associate	39519004
Sepsis	Associate	26077880, 36913799
Severe Acute Respiratory Syndrome	Associate	30060095, 35673765
Skin Diseases	Associate	18629308, 25340789, 28061443
Sleep Apnea Obstructive	Inhibit	30159112
Small Cell Lung Carcinoma	Associate	23667609
Smoke Inhalation Injury	Inhibit	20011043
Smoke Inhalation Injury	Associate	26861788
Spinal Cord Injuries	Associate	35775321
Squamous Cell Carcinoma of Head and Neck	Associate	23451093, 24386210, 25234657, 27736845, 27840932, 29053175, 29306329, 30046007, 32801084, 32814771, 33051434, 33859744, 34189138, 34212035, 34479919, 35689537, 35945195, 36867945, 37004423, 37716475
Status Asthmaticus	Associate	21605660
Stiff Skin Syndrome	Associate	32780748
Stomach Neoplasms	Associate	24175806, 25588809, 26410168, 30811526, 33079995, 33407483, 34098867, 34570396, 35237380, 35242279, 35417854, 37024798, 37488673, 37768308, 37958895, 38070189
Subarachnoid Hemorrhage	Associate	36506933
Supranuclear Palsy Progressive	Associate	35976433
Tertiary Lymphoid Structures	Associate	26247201
Thyroid Cancer Papillary	Associate	24138990, 29901070, 31591432, 32824922
Thyroid Cancer Papillary	Stimulate	36951264
Thyroid Neoplasms	Associate	22691366, 24138990, 26700459, 27856756, 32824922
Tongue Neoplasms	Associate	35806120
Triple Negative Breast Neoplasms	Associate	31379986, 33892113, 36432484, 37822991, 38600165, 39819723, 40613296
Tuberculosis Multidrug Resistant	Stimulate	23667609
Tuberculosis Multidrug Resistant	Associate	30365132, 33079995
Upton Young syndrome	Associate	31687076
Uremia	Associate	28785379
Urethral Neoplasms	Associate	28767070
Urinary Bladder Neoplasms	Associate	24919441, 25002527, 29248722, 31329868, 32273683, 34443505, 35031788, 36495164, 37108769
Urologic Neoplasms	Associate	29716554
Uterine Cervical Dysplasia	Associate	26226105, 26915435
Uterine Cervical Dysplasia	Stimulate	26247201
Uterine Cervical Neoplasms	Associate	24390348, 26247201, 28261610, 30058679, 35944738, 36424462, 38047020
Uterine Diseases	Stimulate	21228930
Uterine Diseases	Associate	33678318, 37773689
Vascular Diseases	Associate	18633117, 22685617, 25807533, 27374075, 37154169, 38069389
Ventricular Remodeling	Associate	39302489
Vitiligo	Associate	24662764, 25029322, 27222475, 28186139, 30338917
Vitiligo	Inhibit	40723924
Wounds and Injuries	Associate	26077880, 31654068, 34761008, 36525817, 37773689
Wrist Injuries	Stimulate	36574898