NNT (nicotinamide nucleotide transhydrogenase)

Gene

• Entrez ID: 23530
• Gene name: Nicotinamide nucleotide transhydrogenase
• Gene symbol: NNT
• Synonyms (NCBI Gene): GCCD4
• Chromosome: 5
• Chromosome location: 5p12
• Summary: This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs370273690	T>C,G	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs387907232	C>T	Pathogenic	Coding sequence variant, missense variant
rs387907233	T>C	Pathogenic	Coding sequence variant, missense variant
rs387907234	G>C	Pathogenic	Coding sequence variant, missense variant
rs786205344	G>-	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs786205345	TCAC>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs864309519	->G	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs886039786	T>C	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant
rs886039787	A>C	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs886039788	G>A	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant
rs886039789	C>G,T	Pathogenic	Genic upstream transcript variant, stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs886039790	C>T	Pathogenic	Intron variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs1579966821	->T	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016790	hsa-miR-335-5p	Microarray	18185580
MIRT025238	hsa-miR-34a-5p	Proteomics	21566225
MIRT048367	hsa-miR-29b-3p	CLASH	23622248
MIRT046012	hsa-miR-125b-5p	CLASH	23622248
MIRT045755	hsa-miR-125a-5p	CLASH	23622248
MIRT044351	hsa-miR-106b-5p	CLASH	23622248
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627943	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT518999	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT518989	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT627945	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT627944	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627943	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT623067	hsa-miR-1305	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT518999	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT518989	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT623067	hsa-miR-1305	HITS-CLIP	23824327
MIRT638501	hsa-miR-4255	HITS-CLIP	23824327
MIRT638500	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT638498	hsa-miR-4289	HITS-CLIP	23824327
MIRT638499	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT638497	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT638496	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT638495	hsa-miR-581	HITS-CLIP	23824327
MIRT638494	hsa-miR-3657	HITS-CLIP	23824327
MIRT638493	hsa-miR-4669	HITS-CLIP	23824327
MIRT638492	hsa-miR-2117	HITS-CLIP	23824327
MIRT638491	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT638490	hsa-miR-1260a	HITS-CLIP	23824327
MIRT638489	hsa-miR-1260b	HITS-CLIP	23824327
MIRT638488	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT638487	hsa-miR-592	HITS-CLIP	23824327
MIRT638486	hsa-miR-4273	HITS-CLIP	23824327
MIRT638485	hsa-miR-7156-5p	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627943	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT627945	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT627944	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627943	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT627942	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT627941	hsa-miR-4742-5p	HITS-CLIP	23824327
MIRT627940	hsa-miR-4269	HITS-CLIP	23824327
MIRT627939	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT627938	hsa-miR-4514	HITS-CLIP	23824327
MIRT627937	hsa-miR-4692	HITS-CLIP	23824327
MIRT627936	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT627935	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT627934	hsa-miR-4518	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT623067	hsa-miR-1305	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT518999	hsa-miR-500a-5p	PAR-CLIP	21572407
MIRT518998	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT518997	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT518996	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT518995	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT518994	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT518993	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT518992	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT518991	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT518990	hsa-miR-646	PAR-CLIP	21572407
MIRT518989	hsa-miR-501-5p	PAR-CLIP	21572407
MIRT518988	hsa-miR-3121-5p	PAR-CLIP	21572407
MIRT518987	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT518986	hsa-miR-107	PAR-CLIP	21572407
MIRT518985	hsa-miR-503-3p	PAR-CLIP	21572407
MIRT518984	hsa-miR-6830-3p	PAR-CLIP	21572407
MIRT518983	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT518982	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT518981	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT518980	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT518979	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT518978	hsa-miR-1225-5p	PAR-CLIP	21572407
MIRT518977	hsa-miR-1229-5p	PAR-CLIP	21572407
MIRT518976	hsa-miR-511-5p	PAR-CLIP	21572407
MIRT518999	hsa-miR-500a-5p	PAR-CLIP	23446348
MIRT518998	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT518997	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT518996	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT518995	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT518994	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT518993	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT518992	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT518991	hsa-miR-503-5p	PAR-CLIP	23446348
MIRT518990	hsa-miR-646	PAR-CLIP	23446348
MIRT518989	hsa-miR-501-5p	PAR-CLIP	23446348
MIRT518988	hsa-miR-3121-5p	PAR-CLIP	23446348
MIRT518987	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT518986	hsa-miR-107	PAR-CLIP	23446348
MIRT518985	hsa-miR-503-3p	PAR-CLIP	23446348
MIRT518984	hsa-miR-6830-3p	PAR-CLIP	23446348
MIRT518983	hsa-miR-4711-3p	PAR-CLIP	23446348
MIRT518982	hsa-miR-4524a-5p	PAR-CLIP	23446348
MIRT518981	hsa-miR-4524b-5p	PAR-CLIP	23446348
MIRT518980	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT518979	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT518978	hsa-miR-1225-5p	PAR-CLIP	23446348
MIRT518977	hsa-miR-1229-5p	PAR-CLIP	23446348
MIRT518976	hsa-miR-511-5p	PAR-CLIP	23446348
MIRT518987	hsa-miR-103a-3p	PAR-CLIP	27292025
MIRT518986	hsa-miR-107	PAR-CLIP	27292025
MIRT518978	hsa-miR-1225-5p	PAR-CLIP	27292025
MIRT518977	hsa-miR-1229-5p	PAR-CLIP	27292025
MIRT518998	hsa-miR-15a-5p	PAR-CLIP	27292025
MIRT518997	hsa-miR-15b-5p	PAR-CLIP	27292025
MIRT518996	hsa-miR-16-5p	PAR-CLIP	27292025
MIRT518995	hsa-miR-195-5p	PAR-CLIP	27292025
MIRT518988	hsa-miR-3121-5p	PAR-CLIP	27292025
MIRT518980	hsa-miR-374a-5p	PAR-CLIP	27292025
MIRT518979	hsa-miR-374b-5p	PAR-CLIP	27292025
MIRT518994	hsa-miR-424-5p	PAR-CLIP	27292025
MIRT518982	hsa-miR-4524a-5p	PAR-CLIP	27292025
MIRT518981	hsa-miR-4524b-5p	PAR-CLIP	27292025
MIRT518983	hsa-miR-4711-3p	PAR-CLIP	27292025
MIRT518993	hsa-miR-497-5p	PAR-CLIP	27292025
MIRT518999	hsa-miR-500a-5p	PAR-CLIP	27292025
MIRT518989	hsa-miR-501-5p	PAR-CLIP	27292025
MIRT518985	hsa-miR-503-3p	PAR-CLIP	27292025
MIRT518991	hsa-miR-503-5p	PAR-CLIP	27292025
MIRT518976	hsa-miR-511-5p	PAR-CLIP	27292025
MIRT518990	hsa-miR-646	PAR-CLIP	27292025
MIRT518984	hsa-miR-6830-3p	PAR-CLIP	27292025
MIRT518992	hsa-miR-6838-5p	PAR-CLIP	27292025
MIRT611906	hsa-miR-4672	HITS-CLIP	27418678
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	27418678
MIRT627943	hsa-miR-7161-3p	HITS-CLIP	27418678
MIRT611909	hsa-miR-8485	HITS-CLIP	27418678
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627943	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT518999	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT518989	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT627945	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT627944	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627943	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT623067	hsa-miR-1305	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT518999	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT518989	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT623067	hsa-miR-1305	HITS-CLIP	23824327
MIRT638501	hsa-miR-4255	HITS-CLIP	23824327
MIRT638500	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT638498	hsa-miR-4289	HITS-CLIP	23824327
MIRT638499	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT638497	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT638496	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT638495	hsa-miR-581	HITS-CLIP	23824327
MIRT638494	hsa-miR-3657	HITS-CLIP	23824327
MIRT638493	hsa-miR-4669	HITS-CLIP	23824327
MIRT638492	hsa-miR-2117	HITS-CLIP	23824327
MIRT638491	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT638490	hsa-miR-1260a	HITS-CLIP	23824327
MIRT638489	hsa-miR-1260b	HITS-CLIP	23824327
MIRT638488	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT638487	hsa-miR-592	HITS-CLIP	23824327
MIRT638486	hsa-miR-4273	HITS-CLIP	23824327
MIRT638485	hsa-miR-7156-5p	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627943	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT627945	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT627944	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627943	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT627942	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT627941	hsa-miR-4742-5p	HITS-CLIP	23824327
MIRT627940	hsa-miR-4269	HITS-CLIP	23824327
MIRT627939	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT627938	hsa-miR-4514	HITS-CLIP	23824327
MIRT627937	hsa-miR-4692	HITS-CLIP	23824327
MIRT627936	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT627935	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT627934	hsa-miR-4518	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT623067	hsa-miR-1305	HITS-CLIP	23824327
MIRT611909	hsa-miR-8485	HITS-CLIP	23824327
MIRT611908	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611907	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611906	hsa-miR-4672	HITS-CLIP	23824327
MIRT518999	hsa-miR-500a-5p	PAR-CLIP	21572407
MIRT518998	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT518997	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT518996	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT518995	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT518994	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT518993	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT518992	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT518991	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT518990	hsa-miR-646	PAR-CLIP	21572407
MIRT518989	hsa-miR-501-5p	PAR-CLIP	21572407
MIRT518988	hsa-miR-3121-5p	PAR-CLIP	21572407
MIRT518987	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT518986	hsa-miR-107	PAR-CLIP	21572407
MIRT518985	hsa-miR-503-3p	PAR-CLIP	21572407
MIRT518984	hsa-miR-6830-3p	PAR-CLIP	21572407
MIRT518983	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT518982	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT518981	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT518980	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT518979	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT518978	hsa-miR-1225-5p	PAR-CLIP	21572407
MIRT518977	hsa-miR-1229-5p	PAR-CLIP	21572407
MIRT518976	hsa-miR-511-5p	PAR-CLIP	21572407
MIRT518999	hsa-miR-500a-5p	PAR-CLIP	23446348
MIRT518998	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT518997	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT518996	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT518995	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT518994	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT518993	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT518992	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT518991	hsa-miR-503-5p	PAR-CLIP	23446348
MIRT518990	hsa-miR-646	PAR-CLIP	23446348
MIRT518989	hsa-miR-501-5p	PAR-CLIP	23446348
MIRT518988	hsa-miR-3121-5p	PAR-CLIP	23446348
MIRT518987	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT518986	hsa-miR-107	PAR-CLIP	23446348
MIRT518985	hsa-miR-503-3p	PAR-CLIP	23446348
MIRT518984	hsa-miR-6830-3p	PAR-CLIP	23446348
MIRT518983	hsa-miR-4711-3p	PAR-CLIP	23446348
MIRT518982	hsa-miR-4524a-5p	PAR-CLIP	23446348
MIRT518981	hsa-miR-4524b-5p	PAR-CLIP	23446348
MIRT518980	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT518979	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT518978	hsa-miR-1225-5p	PAR-CLIP	23446348
MIRT518977	hsa-miR-1229-5p	PAR-CLIP	23446348
MIRT518976	hsa-miR-511-5p	PAR-CLIP	23446348
MIRT1188145	hsa-miR-1226	CLIP-seq
MIRT1188146	hsa-miR-409-5p	CLIP-seq
MIRT1188147	hsa-miR-4733-3p	CLIP-seq
MIRT1188148	hsa-miR-1256	CLIP-seq
MIRT1188149	hsa-miR-1278	CLIP-seq
MIRT1188150	hsa-miR-1323	CLIP-seq
MIRT1188151	hsa-miR-2467-3p	CLIP-seq
MIRT1188152	hsa-miR-3152-5p	CLIP-seq
MIRT1188153	hsa-miR-3158-5p	CLIP-seq
MIRT1188154	hsa-miR-3678-3p	CLIP-seq
MIRT1188155	hsa-miR-382	CLIP-seq
MIRT1188156	hsa-miR-4257	CLIP-seq
MIRT1188157	hsa-miR-4418	CLIP-seq
MIRT1188158	hsa-miR-4522	CLIP-seq
MIRT1188159	hsa-miR-4528	CLIP-seq
MIRT1188160	hsa-miR-4643	CLIP-seq
MIRT1188161	hsa-miR-466	CLIP-seq
MIRT1188162	hsa-miR-4714-5p	CLIP-seq
MIRT1188163	hsa-miR-4774-3p	CLIP-seq
MIRT1188164	hsa-miR-509-3-5p	CLIP-seq
MIRT1188165	hsa-miR-509-5p	CLIP-seq
MIRT1188166	hsa-miR-548a-3p	CLIP-seq
MIRT1188167	hsa-miR-548e	CLIP-seq
MIRT1188168	hsa-miR-548f	CLIP-seq
MIRT1188169	hsa-miR-548o	CLIP-seq
MIRT1920686	hsa-miR-181a	CLIP-seq
MIRT1920687	hsa-miR-181b	CLIP-seq
MIRT1920688	hsa-miR-181c	CLIP-seq
MIRT1920689	hsa-miR-181d	CLIP-seq
MIRT1920690	hsa-miR-377	CLIP-seq
MIRT1920691	hsa-miR-4262	CLIP-seq
MIRT1920692	hsa-miR-496	CLIP-seq
MIRT1920693	hsa-miR-664	CLIP-seq
MIRT1920686	hsa-miR-181a	CLIP-seq
MIRT1920687	hsa-miR-181b	CLIP-seq
MIRT1920688	hsa-miR-181c	CLIP-seq
MIRT1920689	hsa-miR-181d	CLIP-seq
MIRT1920690	hsa-miR-377	CLIP-seq
MIRT1920691	hsa-miR-4262	CLIP-seq
MIRT1920692	hsa-miR-496	CLIP-seq
MIRT1920693	hsa-miR-664	CLIP-seq
MIRT2054528	hsa-miR-4668-3p	CLIP-seq
MIRT2054529	hsa-miR-548c-3p	CLIP-seq
MIRT1188150	hsa-miR-1323	CLIP-seq
MIRT2283596	hsa-miR-23a	CLIP-seq
MIRT2283597	hsa-miR-23b	CLIP-seq
MIRT2283598	hsa-miR-23c	CLIP-seq
MIRT2283599	hsa-miR-335	CLIP-seq
MIRT2283600	hsa-miR-3671	CLIP-seq
MIRT1188156	hsa-miR-4257	CLIP-seq
MIRT2283601	hsa-miR-499-3p	CLIP-seq
MIRT2283602	hsa-miR-499a-3p	CLIP-seq
MIRT2283603	hsa-miR-515-5p	CLIP-seq
MIRT1188169	hsa-miR-548o	CLIP-seq
MIRT2283604	hsa-miR-548v	CLIP-seq
MIRT2283605	hsa-miR-561	CLIP-seq
MIRT2283606	hsa-miR-579	CLIP-seq
MIRT2283607	hsa-miR-607	CLIP-seq
MIRT2283608	hsa-miR-622	CLIP-seq
MIRT2283600	hsa-miR-3671	CLIP-seq
MIRT2455280	hsa-miR-548n	CLIP-seq
MIRT2455281	hsa-miR-548t	CLIP-seq
MIRT2283605	hsa-miR-561	CLIP-seq
MIRT2283607	hsa-miR-607	CLIP-seq
MIRT2581781	hsa-miR-105	CLIP-seq
MIRT2581782	hsa-miR-1244	CLIP-seq
MIRT1188148	hsa-miR-1256	CLIP-seq
MIRT2581783	hsa-miR-1272	CLIP-seq
MIRT2581784	hsa-miR-1284	CLIP-seq
MIRT2581785	hsa-miR-129-5p	CLIP-seq
MIRT1188150	hsa-miR-1323	CLIP-seq
MIRT2581786	hsa-miR-142-5p	CLIP-seq
MIRT2581787	hsa-miR-203	CLIP-seq
MIRT2581788	hsa-miR-216b	CLIP-seq
MIRT1188151	hsa-miR-2467-3p	CLIP-seq
MIRT2581789	hsa-miR-3064-3p	CLIP-seq
MIRT2581790	hsa-miR-3126-5p	CLIP-seq
MIRT2581791	hsa-miR-3140-3p	CLIP-seq
MIRT1188152	hsa-miR-3152-5p	CLIP-seq
MIRT1188153	hsa-miR-3158-5p	CLIP-seq
MIRT2581792	hsa-miR-3160-5p	CLIP-seq
MIRT2581793	hsa-miR-3174	CLIP-seq
MIRT2581794	hsa-miR-3180-5p	CLIP-seq
MIRT2283599	hsa-miR-335	CLIP-seq
MIRT2581795	hsa-miR-338-3p	CLIP-seq
MIRT2581796	hsa-miR-340	CLIP-seq
MIRT2581797	hsa-miR-3613-3p	CLIP-seq
MIRT2581798	hsa-miR-3614-5p	CLIP-seq
MIRT2581799	hsa-miR-3617	CLIP-seq
MIRT1188154	hsa-miR-3678-3p	CLIP-seq
MIRT2581800	hsa-miR-3921	CLIP-seq
MIRT2581801	hsa-miR-409-3p	CLIP-seq
MIRT1188156	hsa-miR-4257	CLIP-seq
MIRT2581802	hsa-miR-4282	CLIP-seq
MIRT2581803	hsa-miR-4328	CLIP-seq
MIRT1188157	hsa-miR-4418	CLIP-seq
MIRT2581804	hsa-miR-4419a	CLIP-seq
MIRT2581805	hsa-miR-4422	CLIP-seq
MIRT2581806	hsa-miR-4510	CLIP-seq
MIRT1188158	hsa-miR-4522	CLIP-seq
MIRT2581807	hsa-miR-4530	CLIP-seq
MIRT2581808	hsa-miR-4540	CLIP-seq
MIRT2581809	hsa-miR-455-5p	CLIP-seq
MIRT2581810	hsa-miR-4653-5p	CLIP-seq
MIRT2581811	hsa-miR-4659a-3p	CLIP-seq
MIRT2581812	hsa-miR-4659b-3p	CLIP-seq
MIRT2581813	hsa-miR-4680-5p	CLIP-seq
MIRT1188162	hsa-miR-4714-5p	CLIP-seq
MIRT2581814	hsa-miR-4766-5p	CLIP-seq
MIRT1188163	hsa-miR-4774-3p	CLIP-seq
MIRT2581815	hsa-miR-4780	CLIP-seq
MIRT2581816	hsa-miR-494	CLIP-seq
MIRT2283601	hsa-miR-499-3p	CLIP-seq
MIRT2283602	hsa-miR-499a-3p	CLIP-seq
MIRT2581817	hsa-miR-500a	CLIP-seq
MIRT2581818	hsa-miR-501-3p	CLIP-seq
MIRT2581819	hsa-miR-502-3p	CLIP-seq
MIRT1188164	hsa-miR-509-3-5p	CLIP-seq
MIRT1188165	hsa-miR-509-5p	CLIP-seq
MIRT2283603	hsa-miR-515-5p	CLIP-seq
MIRT2581820	hsa-miR-539	CLIP-seq
MIRT1188166	hsa-miR-548a-3p	CLIP-seq
MIRT2054529	hsa-miR-548c-3p	CLIP-seq
MIRT1188167	hsa-miR-548e	CLIP-seq
MIRT1188168	hsa-miR-548f	CLIP-seq
MIRT1188169	hsa-miR-548o	CLIP-seq
MIRT2283606	hsa-miR-579	CLIP-seq
MIRT2581821	hsa-miR-582-5p	CLIP-seq
MIRT2283608	hsa-miR-622	CLIP-seq
MIRT2581822	hsa-miR-640	CLIP-seq
MIRT2581823	hsa-miR-641	CLIP-seq
MIRT2581824	hsa-miR-921	CLIP-seq
MIRT2581825	hsa-miR-938	CLIP-seq
MIRT2581781	hsa-miR-105	CLIP-seq
MIRT2581782	hsa-miR-1244	CLIP-seq
MIRT1188148	hsa-miR-1256	CLIP-seq
MIRT2581783	hsa-miR-1272	CLIP-seq
MIRT2581784	hsa-miR-1284	CLIP-seq
MIRT2581785	hsa-miR-129-5p	CLIP-seq
MIRT1188150	hsa-miR-1323	CLIP-seq
MIRT2581786	hsa-miR-142-5p	CLIP-seq
MIRT2581787	hsa-miR-203	CLIP-seq
MIRT2581788	hsa-miR-216b	CLIP-seq
MIRT1188151	hsa-miR-2467-3p	CLIP-seq
MIRT2581789	hsa-miR-3064-3p	CLIP-seq
MIRT2581790	hsa-miR-3126-5p	CLIP-seq
MIRT2581791	hsa-miR-3140-3p	CLIP-seq
MIRT1188152	hsa-miR-3152-5p	CLIP-seq
MIRT1188153	hsa-miR-3158-5p	CLIP-seq
MIRT2581792	hsa-miR-3160-5p	CLIP-seq
MIRT2581793	hsa-miR-3174	CLIP-seq
MIRT2581794	hsa-miR-3180-5p	CLIP-seq
MIRT2283599	hsa-miR-335	CLIP-seq
MIRT2581795	hsa-miR-338-3p	CLIP-seq
MIRT2581796	hsa-miR-340	CLIP-seq
MIRT2581797	hsa-miR-3613-3p	CLIP-seq
MIRT2581798	hsa-miR-3614-5p	CLIP-seq
MIRT2581799	hsa-miR-3617	CLIP-seq
MIRT1188154	hsa-miR-3678-3p	CLIP-seq
MIRT2581800	hsa-miR-3921	CLIP-seq
MIRT2581801	hsa-miR-409-3p	CLIP-seq
MIRT1188156	hsa-miR-4257	CLIP-seq
MIRT2581802	hsa-miR-4282	CLIP-seq
MIRT2581803	hsa-miR-4328	CLIP-seq
MIRT1188157	hsa-miR-4418	CLIP-seq
MIRT2581804	hsa-miR-4419a	CLIP-seq
MIRT2581805	hsa-miR-4422	CLIP-seq
MIRT2686408	hsa-miR-4436b-5p	CLIP-seq
MIRT2686409	hsa-miR-4452	CLIP-seq
MIRT2581806	hsa-miR-4510	CLIP-seq
MIRT1188158	hsa-miR-4522	CLIP-seq
MIRT2581807	hsa-miR-4530	CLIP-seq
MIRT2581808	hsa-miR-4540	CLIP-seq
MIRT2581809	hsa-miR-455-5p	CLIP-seq
MIRT2581810	hsa-miR-4653-5p	CLIP-seq
MIRT2581811	hsa-miR-4659a-3p	CLIP-seq
MIRT2581812	hsa-miR-4659b-3p	CLIP-seq
MIRT2581813	hsa-miR-4680-5p	CLIP-seq
MIRT1188162	hsa-miR-4714-5p	CLIP-seq
MIRT2581814	hsa-miR-4766-5p	CLIP-seq
MIRT1188163	hsa-miR-4774-3p	CLIP-seq
MIRT2581815	hsa-miR-4780	CLIP-seq
MIRT2581816	hsa-miR-494	CLIP-seq
MIRT2283601	hsa-miR-499-3p	CLIP-seq
MIRT2283602	hsa-miR-499a-3p	CLIP-seq
MIRT2581817	hsa-miR-500a	CLIP-seq
MIRT2581818	hsa-miR-501-3p	CLIP-seq
MIRT2581819	hsa-miR-502-3p	CLIP-seq
MIRT1188164	hsa-miR-509-3-5p	CLIP-seq
MIRT1188165	hsa-miR-509-5p	CLIP-seq
MIRT2283603	hsa-miR-515-5p	CLIP-seq
MIRT2581820	hsa-miR-539	CLIP-seq
MIRT1188166	hsa-miR-548a-3p	CLIP-seq
MIRT2054529	hsa-miR-548c-3p	CLIP-seq
MIRT1188167	hsa-miR-548e	CLIP-seq
MIRT1188168	hsa-miR-548f	CLIP-seq
MIRT1188169	hsa-miR-548o	CLIP-seq
MIRT2283606	hsa-miR-579	CLIP-seq
MIRT2581821	hsa-miR-582-5p	CLIP-seq
MIRT2283608	hsa-miR-622	CLIP-seq
MIRT2581822	hsa-miR-640	CLIP-seq
MIRT2581823	hsa-miR-641	CLIP-seq
MIRT2686410	hsa-miR-653	CLIP-seq
MIRT2686411	hsa-miR-889	CLIP-seq
MIRT2581824	hsa-miR-921	CLIP-seq
MIRT2581825	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003957	Function	NAD(P)+ transhydrogenase (Si-specific) activity	TAS	9524818
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS	10673423
GO:0006099	Process	Tricarboxylic acid cycle	TAS	10673423
GO:0006740	Process	NADPH regeneration	IBA
GO:0006740	Process	NADPH regeneration	IEA
GO:0008750	Function	Proton-translocating NAD(P)+ transhydrogenase activity	IEA
GO:0010918	Process	Positive regulation of mitochondrial membrane potential	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0032364	Process	Intracellular oxygen homeostasis	IEA
GO:0033273	Process	Response to vitamin	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0050661	Function	NADP binding	IBA
GO:0050661	Function	NADP binding	IDA	10673423
GO:0051287	Function	NAD binding	TAS	10673423
GO:0072593	Process	Reactive oxygen species metabolic process	IMP	22634753
GO:0098803	Component	Respiratory chain complex	TAS	10673423
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	TAS	10673423
GO:1903285	Process	Positive regulation of hydrogen peroxide catabolic process	IEA

Other IDs

• MIM: 607878
• HGNC: 7863
• e!Ensembl: ENSG00000112992

Protein

• UniProt ID: Q13423
• Protein name: NAD(P) transhydrogenase, mitochondrial (EC 7.1.1.1) (Nicotinamide nucleotide transhydrogenase) (Pyridine nucleotide transhydrogenase)
• Protein function: The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane (By similarity). May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland (P
• PDB: 1DJL, 1PT9, 1U31
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05222	AlaDh_PNT_N	60 → 199	Alanine dehydrogenase/PNT, N-terminal domain	Domain
  PF01262	AlaDh_PNT_C	203 → 437	Alanine dehydrogenase/PNT, C-terminal domain	Domain
  PF12769	PNTB_4TM	501 → 587	4TM region of pyridine nucleotide transhydrogenase, mitoch	Family
  PF02233	PNTB	620 → 1079	NAD(P) transhydrogenase beta subunit	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues. {ECO:0000269|PubMed:22634753}.
• Sequence:

  MANLLKTVVTGCSCPLLSNLGSCKGLRVKKDFLRTFYTHQELWCKAPVKPGIPYKQLTVG
  VPKEIFQNEKRVALSPAGVQNLVKQGFNVVVESGAGEASKFSDDHYRVAGAQIQGAKEVL
  ASDLVVKVRAPMVNPTLGVHEADLLKTSGTLISFIYPAQNPELLNKLSQRKTTVLAMDQV
  PRVTIAQGYDALSSMANIAGYKAVVLAANHFGRFFTGQITAAGKVPPAKILIVGGGVAGL
  ASAGAAKSMGAIVRGFDTRAAALEQFKSLGAEPLEVDLKESGEGQGGYAKEMSKEFIEAE
  MKLFAQQCKEVDILISTALIPGKKAPVLFNKEMIESMKEGSVVVDLAAEAGGNFETTKPG
  ELYIHKGITHIGYTDLPSRMATQASTLYSNNITKLLKAISPDKDNFYFDVKDDFDFGTMG
  HVIRGTVVMKDGKVIFPAPTPKNIPQGAPVKQKTVAELEAEKAATITPFRKTMSTASAYT
  AGLTGILGLGIAAPNLAFSQMVTTFGLAGIVGYHTVWGVTPALHSPLMSVTNAISGLTAV
  GGLALMGGHLYPSTTSQGLAALAAFISSVNIAGGFLVTQRMLDMFKRPTDPPEYNYLYLL
  PAGTFVGGYLAALYSGYNIEQIMYLGSGLCCVGALAGLSTQGTARLGNALGMIGVAGGLA
  ATLGVLKPGPELLAQMSGAMALGGTIGLTIAKRIQISDLPQLVAAFHSLVGLAAVLTCIA
  EYIIEYPHFATDAAANLTKIVAYLGTYIGGVTFSGSLIAYGKLQGLLKSAPLLLPGRHLL
  NAGLLAASVGGIIPFMVDPSFTTGITCLGSVSALSAVMGVTLTAAIGGADMPVVITVLNS
  YSGWALCAEGFLLNNNLLTIVGALIGSSGAILSYIMCVAMNRSLANVILGGYGTTSTAGG
  KPMEISGTHTEINLDNAIDMIREANSIIITPGYGLCAAKAQYPIADLVKMLTEQGKKVRF
  GIHPVAGRMPGQLNVLLAEAGVPYDIVLEMDEINHDFPDTDLVLVIGANDTVNSAAQEDP
  NSIIAGMPVLEVWKSKQVIVMKRSLGVGYAAVDNPIFYKPNTAMLLGDAKKTCDALQAKV
  RESYQK

• Sequence length: 1086

Pathways

KEGG:

Nicotinate and nicotinamide metabolism
Metabolic pathways

Reactome:

Citric acid cycle (TCA cycle)

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
Glucocorticoid deficiency 4	Pathogenic; Likely pathogenic	rs2111935997, rs2478489596, rs1437719035, rs864309519, rs886039786, rs886039788, rs886039789, rs886039790, rs2478488956, rs387907232, rs786205344, rs387907233, rs786205345, rs370273690, rs387907234, rs1579966821, rs1739624229	RCV001449919 RCV002283609 RCV002283833 RCV000202606 RCV000256214 RCV001254595 RCV000256222 RCV000256229 RCV004545904 RCV000029193 RCV000029194 RCV000029195 RCV000029196 RCV000029197 RCV000029198 RCV000985151 RCV001196318	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY	Pathogenic; Likely pathogenic	rs886039787, rs886039788	RCV000256221 RCV000256216	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL GLUCOCORTICOID DEFICIENCY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL GLUCOCORTICOID DEFICIENCY 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL GLUCOCORTICOID DEFICIENCY TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NNT-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROLIFERATIVE DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aarskog syndrome	Aarskog Syndrome	BEFREE	23279877, 23392095, 23474776, 25459914, 26548497, 27459240		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	27129361		★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	27129361		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	29850793		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	29850793		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29186589	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	29850793		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29455203		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29455203		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29644412		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31848324		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	35627102	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31210440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	32190687	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31848324		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	38036719	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26025024		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	27129361	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29644412		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29186589	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	27129361	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	20388492, 27459240		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	27129361	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	33478087	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	28078350		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27459240		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27459240	Associate	★☆☆☆☆ Found in Text Mining only
Familial glucocorticoid deficiency	Glucocorticoid Deficiency	BEFREE	22634753, 23474776, 25459914, 26548497, 27459240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial glucocorticoid deficiency	Glucocorticoid Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Glucocorticoid Deficiency 1	Glucocorticoid deficiency	Pubtator	25459914, 27129361, 35627102	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Glucocorticoid Deficiency Type 1	Glucocorticoid Deficiency	ORPHANET_DG	22634753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	29644412		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27560795, 31734653	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid Deficiency 2	Glucocorticoid deficiency	Pubtator	23474776, 25459914, 27129361, 27459240	Associate	★☆☆☆☆ Found in Text Mining only
GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY	GLUCOCORTICOID DEFICIENCY WITH MINERALOCORTICOID DEFICIENCY	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY	GLUCOCORTICOID DEFICIENCY WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY	UNIPROT_DG	22634753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY	GLUCOCORTICOID DEFICIENCY WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY	GENOMICS_ENGLAND_DG	23474776, 27129361, 28546232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY	GLUCOCORTICOID DEFICIENCY WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY	GLUCOCORTICOID DEFICIENCY WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	36656851	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	20388492, 27459240		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	20388492, 27459240	Associate	★☆☆☆☆ Found in Text Mining only
Hypernatriuria	Hypernatriuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28087333, 30431384		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	27129361	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemic coma	Hypoglycemic coma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemic seizures	Hypoglycemic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	27129361	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27560795	Stimulate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	26025024		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	26025024		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31210440		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30059901, 31309731		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31848324		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29518771, 31848324		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27459240	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31474168		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30059901, 31616187		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30070323		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23592659, 27459240, 30823587		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23592659, 27459240	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30823587	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30489194		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	29644412		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	23845568		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35715447	Associate	★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30059901, 31309731		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	30059901		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37244254	Associate	★☆☆☆☆ Found in Text Mining only
Testicular adrenal rest tumor	Testicular adrenal rest tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32190687	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18559093	Associate	★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	GENOMICS_ENGLAND_DG	23474776		★☆☆☆☆ Found in Text Mining only