NODAL (nodal growth differentiation factor)

Gene

• Entrez ID: 4838
• Gene name: Nodal growth differentiation factor
• Gene symbol: NODAL
• Synonyms (NCBI Gene): HTX5
• Chromosome: 10
• Chromosome location: 10q22.1
• Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894169	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121909283	C>A,T	Pathogenic, likely-benign, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs150819707	G>A	Not-provided, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs555563029	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs878855044	C>T	Likely-pathogenic	Splice donor variant
rs1564667180	GGTGCCTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564667617	C>A	Likely-pathogenic	Splice acceptor variant
rs1589152470	C>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023342	hsa-miR-122-5p	Microarray	17612493
MIRT054063	hsa-miR-378a-5p	Luciferase reporter assay, Western blot	22454525
MIRT054063	hsa-miR-378a-5p	Luciferase reporter assay, Western blot	22454525
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT667198	hsa-miR-6858-3p	HITS-CLIP	23824327
MIRT667197	hsa-miR-3943	HITS-CLIP	23824327
MIRT667196	hsa-miR-5586-5p	HITS-CLIP	23824327
MIRT667195	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT667194	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT667193	hsa-miR-3194-5p	HITS-CLIP	23824327
MIRT667192	hsa-miR-4313	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT667191	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT667190	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT641352	hsa-miR-2277-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT667198	hsa-miR-6858-3p	HITS-CLIP	23824327
MIRT667197	hsa-miR-3943	HITS-CLIP	23824327
MIRT667196	hsa-miR-5586-5p	HITS-CLIP	23824327
MIRT667195	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT667194	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT667193	hsa-miR-3194-5p	HITS-CLIP	23824327
MIRT667192	hsa-miR-4313	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT667191	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT667190	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT641352	hsa-miR-2277-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT611697	hsa-miR-4438	HITS-CLIP	23824327
MIRT611698	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611696	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611695	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611694	hsa-miR-4469	HITS-CLIP	23824327
MIRT611693	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT611692	hsa-miR-3660	HITS-CLIP	23824327
MIRT611691	hsa-miR-4526	HITS-CLIP	23824327
MIRT611690	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT611689	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT611688	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT611687	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611686	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611685	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611684	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT054063	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT611683	hsa-miR-1200	HITS-CLIP	23824327
MIRT611682	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT1188358	hsa-miR-145	CLIP-seq
MIRT1188359	hsa-miR-1825	CLIP-seq
MIRT1188360	hsa-miR-199a-5p	CLIP-seq
MIRT1188361	hsa-miR-199b-5p	CLIP-seq
MIRT1188362	hsa-miR-2110	CLIP-seq
MIRT1188363	hsa-miR-2115	CLIP-seq
MIRT1188364	hsa-miR-3150a-3p	CLIP-seq
MIRT1188365	hsa-miR-3160-3p	CLIP-seq
MIRT1188366	hsa-miR-3175	CLIP-seq
MIRT1188367	hsa-miR-377	CLIP-seq
MIRT1188368	hsa-miR-4260	CLIP-seq
MIRT1188369	hsa-miR-4487	CLIP-seq
MIRT1188370	hsa-miR-4663	CLIP-seq
MIRT1188371	hsa-miR-4716-3p	CLIP-seq
MIRT1188372	hsa-miR-4728-5p	CLIP-seq
MIRT1188373	hsa-miR-558	CLIP-seq
MIRT1188374	hsa-miR-591	CLIP-seq
MIRT1188375	hsa-miR-9	CLIP-seq
MIRT1188376	hsa-miR-939	CLIP-seq
MIRT2054554	hsa-miR-3654	CLIP-seq
MIRT2054555	hsa-miR-4433	CLIP-seq
MIRT2054556	hsa-miR-665	CLIP-seq
MIRT2283669	hsa-miR-1236	CLIP-seq
MIRT2283670	hsa-miR-642a	CLIP-seq
MIRT1188358	hsa-miR-145	CLIP-seq
MIRT1188359	hsa-miR-1825	CLIP-seq
MIRT1188360	hsa-miR-199a-5p	CLIP-seq
MIRT1188361	hsa-miR-199b-5p	CLIP-seq
MIRT1188363	hsa-miR-2115	CLIP-seq
MIRT1188365	hsa-miR-3160-3p	CLIP-seq
MIRT1188369	hsa-miR-4487	CLIP-seq
MIRT1188370	hsa-miR-4663	CLIP-seq
MIRT1188373	hsa-miR-558	CLIP-seq
MIRT2455285	hsa-miR-135a	CLIP-seq
MIRT2455286	hsa-miR-135b	CLIP-seq
MIRT2455287	hsa-miR-146a	CLIP-seq
MIRT2455288	hsa-miR-146b-5p	CLIP-seq
MIRT2455289	hsa-miR-3119	CLIP-seq
MIRT2455290	hsa-miR-3136-3p	CLIP-seq
MIRT2054554	hsa-miR-3654	CLIP-seq
MIRT2455291	hsa-miR-4305	CLIP-seq
MIRT2455292	hsa-miR-4463	CLIP-seq
MIRT2455293	hsa-miR-4520a-3p	CLIP-seq
MIRT2455294	hsa-miR-4638-3p	CLIP-seq
MIRT2455295	hsa-miR-4768-3p	CLIP-seq
MIRT2054556	hsa-miR-665	CLIP-seq
MIRT2054556	hsa-miR-665	CLIP-seq
MIRT2054554	hsa-miR-3654	CLIP-seq
MIRT2455292	hsa-miR-4463	CLIP-seq
MIRT2455293	hsa-miR-4520a-3p	CLIP-seq
MIRT2455294	hsa-miR-4638-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NANOG	Unknown	23474366

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001702	Process	Gastrulation with mouth forming second	IEA
GO:0001704	Process	Formation of primary germ layer	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001829	Process	Trophectodermal cell differentiation	IEA
GO:0001831	Process	Trophectodermal cellular morphogenesis	IEA
GO:0001842	Process	Neural fold formation	IEA
GO:0001889	Process	Liver development	IEA
GO:0001890	Process	Placenta development	IEA
GO:0001890	Process	Placenta development	IMP	21356369
GO:0001892	Process	Embryonic placenta development	IEA
GO:0001893	Process	Maternal placenta development	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0002085	Process	Inhibition of neuroepithelial cell differentiation	IEA
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	IEA
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	ISS
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IDA	21116837
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	21656830
GO:0005615	Component	Extracellular space	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007281	Process	Germ cell development	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007565	Process	Female pregnancy	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009880	Process	Embryonic pattern specification	IEA
GO:0009948	Process	Anterior/posterior axis specification	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0010085	Process	Polarity specification of proximal/distal axis	IEA
GO:0010470	Process	Regulation of gastrulation	IEA
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IMP	21116837
GO:0010721	Process	Negative regulation of cell development	IEA
GO:0016015	Function	Morphogen activity	NAS	21159651
GO:0016477	Process	Cell migration	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0022409	Process	Positive regulation of cell-cell adhesion	IMP	21116837
GO:0030154	Process	Cell differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0033505	Process	Floor plate morphogenesis	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035987	Process	Endodermal cell differentiation	IMP	21741376
GO:0038092	Process	Nodal signaling pathway	IDA	21116837
GO:0038092	Process	Nodal signaling pathway	IEA
GO:0038092	Process	Nodal signaling pathway	IGI	15150278
GO:0038092	Process	Nodal signaling pathway	ISS
GO:0042074	Process	Cell migration involved in gastrulation	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IMP	21116837
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	21116837
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048327	Process	Axial mesodermal cell fate specification	IEA
GO:0048382	Process	Mesendoderm development	IEA
GO:0048382	Process	Mesendoderm development	IEA
GO:0048382	Process	Mesendoderm development	IMP	21741376
GO:0048546	Process	Digestive tract morphogenesis	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048729	Process	Tissue morphogenesis	IEA
GO:0048859	Process	Formation of anatomical boundary	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	21656830
GO:0055123	Process	Digestive system development	IEA
GO:0060136	Process	Embryonic process involved in female pregnancy	IEA
GO:0060137	Process	Maternal process involved in parturition	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	21741376
GO:0060460	Process	Left lung morphogenesis	IEA
GO:0060766	Process	Negative regulation of androgen receptor signaling pathway	IDA	21656830
GO:0060802	Process	Epiblast cell-extraembryonic ectoderm cell signaling	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	21116837
GO:0070698	Function	Type I activin receptor binding	IDA	15150278
GO:0070698	Function	Type I activin receptor binding	IMP	21356369
GO:0090009	Process	Primitive streak formation	IEA
GO:0097190	Process	Apoptotic signaling pathway	IDA	15150278
GO:1901164	Process	Negative regulation of trophoblast cell migration	IDA	21356369
GO:1901383	Process	Negative regulation of chorionic trophoblast cell proliferation	IDA	15150278
GO:2000036	Process	Regulation of stem cell population maintenance	TAS	21630377
GO:2000242	Process	Negative regulation of reproductive process	IEA
GO:2000242	Process	Negative regulation of reproductive process	IEA

Other IDs

• MIM: 601265
• HGNC: 7865
• e!Ensembl: ENSG00000156574

Protein

• UniProt ID: Q96S42
• Protein name: Nodal homolog
• Protein function: Essential for mesoderm formation and axial patterning during embryonic development.
• PDB: 4N1D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00019	TGF_beta	246 → 346	Transforming growth factor beta like domain	Domain

• Sequence:

  MHAHCLPFLLHAWWALLQAGAATVATALLRTRGQPSSPSPLAYMLSLYRDPLPRADIIRS
  LQAEDVAVDGQNWTFAFDFSFLSQQEDLAWAELRLQLSSPVDLPTEGSLAIEIFHQPKPD
  TEQASDSCLERFQMDLFTVTLSQVTFSLGSMVLEVTRPLSKWLKHPGALEKQMSRVAGEC
  WPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLLWEAESSWRAQEGQLSWEWGKRHRRHHL
  PDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNHAYIQSLL
  KRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLDHHKDMIVEECGCL

• Sequence length: 347

Pathways

KEGG:

Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Signaling pathways regulating pluripotency of stem cells

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
Heterotaxy, visceral, 5, autosomal	Pathogenic; Likely pathogenic	rs772802856, rs2493095831, rs878855044, rs2493085626, rs1564667180, rs1564667617, rs1447874899, rs1564667078, rs1589152470, rs1589152355	RCV001381991 RCV004594649 RCV000231796 RCV004595206 RCV000754877 RCV000754878 RCV000754879 RCV000692352 RCV000821532 RCV001267676	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NODAL-related disorder	Likely pathogenic	rs2493087333	RCV003335895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Visceral heterotaxy	Likely pathogenic	rs555563029	RCV001824138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenitally corrected transposition of the great arteries	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart, malformation of	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly sequence	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOBAR HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROFORM HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDDLE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMI-LOBAR HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMILOBAR HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOPREOPTIC HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs inversus	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	CTD_human_DG	23264560		★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alobar holoprosencephaly	Alobar Holoprosencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	CTD_human_DG	23264560		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	16755236		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	31570783		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	26289399	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	26289399	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	25765999		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	25765999	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20878064, 30659022		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	22643182	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18334633, 22031289, 22577960, 22643182, 23680691, 26370966, 27007464, 32427827, 32636849, 33784590, 37870468	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24696849	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	17970049	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24465741	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	11127267	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	16603637	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28775934, 30943930	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31053522	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30659022		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24696849, 26358078, 31525256, 37002201	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34257534	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	19553149	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	25765999		★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary valve	Congenital Atresia Of Pulmonary Valve	BEFREE	19064609		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	19553149		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	22352765		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19553149, 22352765, 23979609		★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16755236, 2787142		★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28785100		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	30659022		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19874624	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25228630	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	30943930	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22643182, 23911596	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	19553149, 23979609, 28738792	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29928977	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	16755236		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxia	GENOMICS_ENGLAND_DG	19064609		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	36316122	Associate	★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Heterotaxy, Visceral, 5, Autosomal	Heterotaxy, Visceral	UNIPROT_DG	19064609, 9354794		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Heterotaxy, Visceral, 5, Autosomal	Heterotaxy, Visceral	GENOMICS_ENGLAND_DG	19064609		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Heterotaxy, Visceral, 5, Autosomal	Heterotaxy, Visceral	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Heterotaxy, Visceral, 5, Autosomal	Heterotaxy, Visceral	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holoprosencephaly	Holoprosencephaly	LHGDN	18538293		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	Pubtator	19346217, 19431187, 19553149	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	BEFREE	19553149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	CTD_human_DG	23264560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	GENOMICS_ENGLAND_DG	27363716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22031289, 35729773	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32427827	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23474366		★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	CTD_human_DG	23264560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar Holoprosencephaly	Lobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar holoprosencephaly	Lobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34257534	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30659022		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21557273, 31210839		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26270236		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19492418, 21470426, 30659022		★☆☆☆☆ Found in Text Mining only
Malocclusion	Malocclusion	Pubtator	34257534	Associate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	29847167		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17373879		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18334633, 18604175, 20495543, 20495621, 21159651, 21464823, 22031289, 22643182, 25204799, 25767211, 26239596, 26370966, 34769150, 39376672	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20482672		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microform holoprosencephaly	Microform Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Midline interhemispheric variant of holoprosencephaly	Midline Interhemispheric Variant Of Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Motor neuron disease	Pubtator	11391009	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	30943930	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11709181, 16721152, 19064609, 19553149, 19933292, 22352765, 25298693, 8429908, 8610013, 9354794		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25672326, 30672597		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	30943930	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18784254	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30943930	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27632063	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic syndrome	Pubtator	11391009	Associate	★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	31053522	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21557273, 31210839		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21557273, 21656830, 22643182, 22843506, 25552920, 31210839	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32366240	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	30401983	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	CTD_human_DG	23264560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	BEFREE	26226633		★☆☆☆☆ Found in Text Mining only
Septopreoptic holoprosencephaly	Septopreoptic Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs ambiguous	Situs ambiguus	ORPHANET_DG	9354794		★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	19064609		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs ambiguus	Situs ambiguus	GENOMICS_ENGLAND_DG	19064609		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs ambiguus	Situs ambiguus	ORPHANET_DG	9354794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs Inversus	ORPHANET_DG	19064609		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Situs Inversus	Situs Inversus	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26270236		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27325246	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27007464, 33784590	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	34257534	Stimulate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only