Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4093
Gene name	SMAD family member 9
Gene symbol	SMAD9
Synonyms (NCBI Gene)	MADH6MADH9PPH2SMAD8SMAD8/9SMAD8ASMAD8B
Chromosome	13
Chromosome location	13q13.3
Summary	The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different is

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SNP ID	Visualize variation	Clinical significance	Consequence
rs78249575	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121918359	G>A,T	Pathogenic	Intron variant, stop gained, synonymous variant, coding sequence variant
rs146583835	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs397514715	T>C	Pathogenic	Coding sequence variant, missense variant
rs397514716	G>A	Pathogenic	Stop gained, coding sequence variant

494

Show/Hide all (494)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020446	hsa-miR-106b-5p	Microarray	17242205
MIRT053445	hsa-miR-203a-3p	Microarray	23807165
MIRT550327	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT550326	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT550325	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT550324	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT550323	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT550322	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT550321	hsa-miR-5585-3p	HITS-CLIP	21572407
MIRT550320	hsa-miR-653-5p	HITS-CLIP	21572407
MIRT550319	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT625504	hsa-miR-606	HITS-CLIP	23824327
MIRT625503	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT625502	hsa-miR-890	HITS-CLIP	23824327
MIRT625501	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT625500	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT625499	hsa-miR-940	HITS-CLIP	23824327
MIRT625498	hsa-miR-3929	HITS-CLIP	23824327
MIRT625497	hsa-miR-4419b	HITS-CLIP	23824327
MIRT625496	hsa-miR-4478	HITS-CLIP	23824327
MIRT625495	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT625494	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT625493	hsa-miR-1827	HITS-CLIP	23824327
MIRT625492	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT625491	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT625490	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT625489	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT625488	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT625487	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT625486	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT625485	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT625484	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT625483	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT625482	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT625481	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT625480	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT625479	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT625478	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT625477	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT625476	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT625475	hsa-miR-3689c	HITS-CLIP	23824327
MIRT625474	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT625473	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT625472	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT625471	hsa-miR-665	HITS-CLIP	23824327
MIRT625503	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT625501	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT625500	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT625499	hsa-miR-940	HITS-CLIP	23824327
MIRT625498	hsa-miR-3929	HITS-CLIP	23824327
MIRT625497	hsa-miR-4419b	HITS-CLIP	23824327
MIRT625496	hsa-miR-4478	HITS-CLIP	23824327
MIRT625495	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT625494	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT625493	hsa-miR-1827	HITS-CLIP	23824327
MIRT625492	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT625491	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT625490	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT625489	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT625488	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT625487	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT625486	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT625485	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT625484	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT625483	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT625482	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT625481	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT625480	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT625479	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT625478	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT625477	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT625476	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT625475	hsa-miR-3689c	HITS-CLIP	23824327
MIRT625474	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT625473	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT625472	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT625471	hsa-miR-665	HITS-CLIP	23824327
MIRT625504	hsa-miR-606	HITS-CLIP	23824327
MIRT625503	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT625502	hsa-miR-890	HITS-CLIP	23824327
MIRT625501	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT625500	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT625499	hsa-miR-940	HITS-CLIP	23824327
MIRT625498	hsa-miR-3929	HITS-CLIP	23824327
MIRT625497	hsa-miR-4419b	HITS-CLIP	23824327
MIRT625496	hsa-miR-4478	HITS-CLIP	23824327
MIRT625495	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT625494	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT625493	hsa-miR-1827	HITS-CLIP	23824327
MIRT625492	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT625491	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT625490	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT625489	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT625488	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT625487	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT625486	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT625485	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT625484	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT625483	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT625482	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT625481	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT625480	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT625479	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT625478	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT625477	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT625476	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT625475	hsa-miR-3689c	HITS-CLIP	23824327
MIRT625474	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT625473	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT625472	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT625471	hsa-miR-665	HITS-CLIP	23824327
MIRT550327	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT550326	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550325	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT550324	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT550323	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT550322	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT550321	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT550320	hsa-miR-653-5p	PAR-CLIP	21572407
MIRT550319	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT732816	hsa-miR-100-5p	Luciferase reporter assayRNA-seqqRT-PCRWestern blotting	34256859
MIRT053445	hsa-miR-203a-3p	Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry	31788111
MIRT550327	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT550326	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT550325	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT550324	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT550323	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT550322	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT550321	hsa-miR-5585-3p	HITS-CLIP	21572407
MIRT550320	hsa-miR-653-5p	HITS-CLIP	21572407
MIRT550319	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT625504	hsa-miR-606	HITS-CLIP	23824327
MIRT625503	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT625502	hsa-miR-890	HITS-CLIP	23824327
MIRT625501	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT625500	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT625499	hsa-miR-940	HITS-CLIP	23824327
MIRT625498	hsa-miR-3929	HITS-CLIP	23824327
MIRT625497	hsa-miR-4419b	HITS-CLIP	23824327
MIRT625496	hsa-miR-4478	HITS-CLIP	23824327
MIRT625495	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT625494	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT625493	hsa-miR-1827	HITS-CLIP	23824327
MIRT625492	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT625491	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT625490	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT625489	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT625488	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT625487	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT625486	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT625485	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT625484	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT625483	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT625482	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT625481	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT625480	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT625479	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT625478	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT625477	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT625476	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT625475	hsa-miR-3689c	HITS-CLIP	23824327
MIRT625474	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT625473	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT625472	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT625471	hsa-miR-665	HITS-CLIP	23824327
MIRT625503	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT625501	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT625500	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT625499	hsa-miR-940	HITS-CLIP	23824327
MIRT625498	hsa-miR-3929	HITS-CLIP	23824327
MIRT625497	hsa-miR-4419b	HITS-CLIP	23824327
MIRT625496	hsa-miR-4478	HITS-CLIP	23824327
MIRT625495	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT625494	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT625493	hsa-miR-1827	HITS-CLIP	23824327
MIRT625492	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT625491	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT625490	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT625489	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT625488	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT625487	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT625486	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT625485	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT625484	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT625483	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT625482	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT625481	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT625480	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT625479	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT625478	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT625477	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT625476	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT625475	hsa-miR-3689c	HITS-CLIP	23824327
MIRT625474	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT625473	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT625472	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT625471	hsa-miR-665	HITS-CLIP	23824327
MIRT625504	hsa-miR-606	HITS-CLIP	23824327
MIRT625503	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT625502	hsa-miR-890	HITS-CLIP	23824327
MIRT625501	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT625500	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT625499	hsa-miR-940	HITS-CLIP	23824327
MIRT625498	hsa-miR-3929	HITS-CLIP	23824327
MIRT625497	hsa-miR-4419b	HITS-CLIP	23824327
MIRT625496	hsa-miR-4478	HITS-CLIP	23824327
MIRT625495	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT625494	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT625493	hsa-miR-1827	HITS-CLIP	23824327
MIRT625492	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT625491	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT625490	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT625489	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT625488	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT625487	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT625486	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT625485	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT625484	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT625483	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT625482	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT625481	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT625480	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT625479	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT625478	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT625477	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT625476	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT625475	hsa-miR-3689c	HITS-CLIP	23824327
MIRT625474	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT625473	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT625472	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT625471	hsa-miR-665	HITS-CLIP	23824327
MIRT550327	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT550326	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550325	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT550324	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT550323	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT550322	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT550321	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT550320	hsa-miR-653-5p	PAR-CLIP	21572407
MIRT550319	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT1371190	hsa-miR-1179	CLIP-seq
MIRT1371191	hsa-miR-1268	CLIP-seq
MIRT1371192	hsa-miR-1268b	CLIP-seq
MIRT1371193	hsa-miR-24	CLIP-seq
MIRT1371194	hsa-miR-2467-3p	CLIP-seq
MIRT1371195	hsa-miR-298	CLIP-seq
MIRT1371196	hsa-miR-3125	CLIP-seq
MIRT1371197	hsa-miR-3163	CLIP-seq
MIRT1371198	hsa-miR-3197	CLIP-seq
MIRT1371199	hsa-miR-335	CLIP-seq
MIRT1371200	hsa-miR-34b	CLIP-seq
MIRT1371201	hsa-miR-3612	CLIP-seq
MIRT1371202	hsa-miR-3678-3p	CLIP-seq
MIRT1371203	hsa-miR-3916	CLIP-seq
MIRT1371204	hsa-miR-3974	CLIP-seq
MIRT1371205	hsa-miR-4257	CLIP-seq
MIRT1371206	hsa-miR-4284	CLIP-seq
MIRT1371207	hsa-miR-4457	CLIP-seq
MIRT1371208	hsa-miR-4486	CLIP-seq
MIRT1371209	hsa-miR-4536	CLIP-seq
MIRT1371210	hsa-miR-4684-5p	CLIP-seq
MIRT1371211	hsa-miR-4767	CLIP-seq
MIRT1371212	hsa-miR-4802-3p	CLIP-seq
MIRT1371213	hsa-miR-513b	CLIP-seq
MIRT1371214	hsa-miR-548c-3p	CLIP-seq
MIRT1371215	hsa-miR-548n	CLIP-seq
MIRT1371216	hsa-miR-562	CLIP-seq
MIRT1371217	hsa-miR-585	CLIP-seq
MIRT1371218	hsa-miR-624	CLIP-seq
MIRT1371219	hsa-miR-650	CLIP-seq
MIRT1371220	hsa-miR-653	CLIP-seq
MIRT1371221	hsa-miR-671-5p	CLIP-seq
MIRT1371222	hsa-miR-7	CLIP-seq
MIRT1371223	hsa-miR-181a	CLIP-seq
MIRT1371224	hsa-miR-181b	CLIP-seq
MIRT1371225	hsa-miR-181c	CLIP-seq
MIRT1371226	hsa-miR-181d	CLIP-seq
MIRT1371227	hsa-miR-3122	CLIP-seq
MIRT739579	hsa-miR-3148	CLIP-seq
MIRT1371228	hsa-miR-3176	CLIP-seq
MIRT1371198	hsa-miR-3197	CLIP-seq
MIRT1371199	hsa-miR-335	CLIP-seq
MIRT1371229	hsa-miR-3913-5p	CLIP-seq
MIRT1371230	hsa-miR-3922-3p	CLIP-seq
MIRT1371231	hsa-miR-3924	CLIP-seq
MIRT1371232	hsa-miR-3941	CLIP-seq
MIRT1371204	hsa-miR-3974	CLIP-seq
MIRT739580	hsa-miR-3978	CLIP-seq
MIRT1371233	hsa-miR-4252	CLIP-seq
MIRT1371234	hsa-miR-4262	CLIP-seq
MIRT739583	hsa-miR-4434	CLIP-seq
MIRT1371207	hsa-miR-4457	CLIP-seq
MIRT739584	hsa-miR-4516	CLIP-seq
MIRT739582	hsa-miR-4531	CLIP-seq
MIRT1371235	hsa-miR-4643	CLIP-seq
MIRT1371236	hsa-miR-466	CLIP-seq
MIRT1371237	hsa-miR-4672	CLIP-seq
MIRT1371238	hsa-miR-4699-3p	CLIP-seq
MIRT1371211	hsa-miR-4767	CLIP-seq
MIRT1371239	hsa-miR-4789-3p	CLIP-seq
MIRT1371240	hsa-miR-4793-3p	CLIP-seq
MIRT1371213	hsa-miR-513b	CLIP-seq
MIRT739578	hsa-miR-570	CLIP-seq
MIRT1371218	hsa-miR-624	CLIP-seq
MIRT739581	hsa-miR-944	CLIP-seq
MIRT1371193	hsa-miR-24	CLIP-seq
MIRT1371200	hsa-miR-34b	CLIP-seq
MIRT1371206	hsa-miR-4284	CLIP-seq
MIRT1371194	hsa-miR-2467-3p	CLIP-seq
MIRT2333708	hsa-miR-25	CLIP-seq
MIRT2333709	hsa-miR-3140-3p	CLIP-seq
MIRT1371228	hsa-miR-3176	CLIP-seq
MIRT2333710	hsa-miR-32	CLIP-seq
MIRT1371201	hsa-miR-3612	CLIP-seq
MIRT2333711	hsa-miR-363	CLIP-seq
MIRT2333712	hsa-miR-367	CLIP-seq
MIRT2333713	hsa-miR-370	CLIP-seq
MIRT1371230	hsa-miR-3922-3p	CLIP-seq
MIRT1371233	hsa-miR-4252	CLIP-seq
MIRT1371205	hsa-miR-4257	CLIP-seq
MIRT2333714	hsa-miR-4299	CLIP-seq
MIRT2333715	hsa-miR-4325	CLIP-seq
MIRT2333716	hsa-miR-4705	CLIP-seq
MIRT2333717	hsa-miR-4729	CLIP-seq
MIRT1371240	hsa-miR-4793-3p	CLIP-seq
MIRT2333718	hsa-miR-556-5p	CLIP-seq
MIRT1371219	hsa-miR-650	CLIP-seq
MIRT2333719	hsa-miR-92a	CLIP-seq
MIRT2333720	hsa-miR-92b	CLIP-seq
MIRT2394849	hsa-miR-1245	CLIP-seq
MIRT2394850	hsa-miR-3591-5p	CLIP-seq
MIRT1371191	hsa-miR-1268	CLIP-seq
MIRT1371192	hsa-miR-1268b	CLIP-seq
MIRT1371197	hsa-miR-3163	CLIP-seq
MIRT1371208	hsa-miR-4486	CLIP-seq
MIRT1371210	hsa-miR-4684-5p	CLIP-seq
MIRT1371214	hsa-miR-548c-3p	CLIP-seq
MIRT1371217	hsa-miR-585	CLIP-seq
MIRT2627883	hsa-miR-106a	CLIP-seq
MIRT2627884	hsa-miR-106b	CLIP-seq
MIRT2627885	hsa-miR-1245b-3p	CLIP-seq
MIRT1371191	hsa-miR-1268	CLIP-seq
MIRT1371192	hsa-miR-1268b	CLIP-seq
MIRT2627886	hsa-miR-149	CLIP-seq
MIRT2627887	hsa-miR-150	CLIP-seq
MIRT2627888	hsa-miR-17	CLIP-seq
MIRT2627889	hsa-miR-20a	CLIP-seq
MIRT2627890	hsa-miR-20b	CLIP-seq
MIRT2627891	hsa-miR-2114	CLIP-seq
MIRT1371193	hsa-miR-24	CLIP-seq
MIRT1371194	hsa-miR-2467-3p	CLIP-seq
MIRT2627892	hsa-miR-3064-5p	CLIP-seq
MIRT1371227	hsa-miR-3122	CLIP-seq
MIRT1371197	hsa-miR-3163	CLIP-seq
MIRT2627893	hsa-miR-3190	CLIP-seq
MIRT1371198	hsa-miR-3197	CLIP-seq
MIRT2627894	hsa-miR-320a	CLIP-seq
MIRT2627895	hsa-miR-320b	CLIP-seq
MIRT2627896	hsa-miR-320c	CLIP-seq
MIRT2627897	hsa-miR-320d	CLIP-seq
MIRT2627898	hsa-miR-330-3p	CLIP-seq
MIRT1371199	hsa-miR-335	CLIP-seq
MIRT1371200	hsa-miR-34b	CLIP-seq
MIRT1371201	hsa-miR-3612	CLIP-seq
MIRT2627899	hsa-miR-3663-5p	CLIP-seq
MIRT2627900	hsa-miR-3913-3p	CLIP-seq
MIRT1371229	hsa-miR-3913-5p	CLIP-seq
MIRT2627901	hsa-miR-3914	CLIP-seq
MIRT1371204	hsa-miR-3974	CLIP-seq
MIRT2627902	hsa-miR-3976	CLIP-seq
MIRT739580	hsa-miR-3978	CLIP-seq
MIRT1371205	hsa-miR-4257	CLIP-seq
MIRT2627903	hsa-miR-4258	CLIP-seq
MIRT2627904	hsa-miR-4279	CLIP-seq
MIRT2627905	hsa-miR-4293	CLIP-seq
MIRT2333714	hsa-miR-4299	CLIP-seq
MIRT2627906	hsa-miR-4330	CLIP-seq
MIRT2627907	hsa-miR-4429	CLIP-seq
MIRT2627908	hsa-miR-4437	CLIP-seq
MIRT1371207	hsa-miR-4457	CLIP-seq
MIRT2627909	hsa-miR-4462	CLIP-seq
MIRT1371208	hsa-miR-4486	CLIP-seq
MIRT1371209	hsa-miR-4536	CLIP-seq
MIRT2627910	hsa-miR-4674	CLIP-seq
MIRT1371210	hsa-miR-4684-5p	CLIP-seq
MIRT2627911	hsa-miR-4757-5p	CLIP-seq
MIRT1371211	hsa-miR-4767	CLIP-seq
MIRT2627912	hsa-miR-4786-5p	CLIP-seq
MIRT2627913	hsa-miR-4794	CLIP-seq
MIRT2627914	hsa-miR-489	CLIP-seq
MIRT2627915	hsa-miR-490-3p	CLIP-seq
MIRT2627916	hsa-miR-495	CLIP-seq
MIRT2627917	hsa-miR-5096	CLIP-seq
MIRT1371213	hsa-miR-513b	CLIP-seq
MIRT2627918	hsa-miR-519d	CLIP-seq
MIRT2627919	hsa-miR-520g	CLIP-seq
MIRT2627920	hsa-miR-520h	CLIP-seq
MIRT1371214	hsa-miR-548c-3p	CLIP-seq
MIRT1371217	hsa-miR-585	CLIP-seq
MIRT2627921	hsa-miR-596	CLIP-seq
MIRT1371218	hsa-miR-624	CLIP-seq
MIRT2627922	hsa-miR-634	CLIP-seq
MIRT1371219	hsa-miR-650	CLIP-seq
MIRT2627923	hsa-miR-873	CLIP-seq
MIRT2627924	hsa-miR-93	CLIP-seq
MIRT2627883	hsa-miR-106a	CLIP-seq
MIRT2627884	hsa-miR-106b	CLIP-seq
MIRT2691369	hsa-miR-1205	CLIP-seq
MIRT2691370	hsa-miR-1238	CLIP-seq
MIRT2627885	hsa-miR-1245b-3p	CLIP-seq
MIRT2691371	hsa-miR-1267	CLIP-seq
MIRT1371191	hsa-miR-1268	CLIP-seq
MIRT1371192	hsa-miR-1268b	CLIP-seq
MIRT2691372	hsa-miR-1281	CLIP-seq
MIRT2627886	hsa-miR-149	CLIP-seq
MIRT2627887	hsa-miR-150	CLIP-seq
MIRT2627888	hsa-miR-17	CLIP-seq
MIRT2691373	hsa-miR-188-3p	CLIP-seq
MIRT2691374	hsa-miR-1909	CLIP-seq
MIRT2691375	hsa-miR-200b	CLIP-seq
MIRT2691376	hsa-miR-200c	CLIP-seq
MIRT2627889	hsa-miR-20a	CLIP-seq
MIRT2627890	hsa-miR-20b	CLIP-seq
MIRT2627891	hsa-miR-2114	CLIP-seq
MIRT1371193	hsa-miR-24	CLIP-seq
MIRT2691377	hsa-miR-302a	CLIP-seq
MIRT2691378	hsa-miR-302b	CLIP-seq
MIRT2691379	hsa-miR-302c	CLIP-seq
MIRT2691380	hsa-miR-302d	CLIP-seq
MIRT2691381	hsa-miR-302e	CLIP-seq
MIRT2627892	hsa-miR-3064-5p	CLIP-seq
MIRT1371227	hsa-miR-3122	CLIP-seq
MIRT1371197	hsa-miR-3163	CLIP-seq
MIRT1371198	hsa-miR-3197	CLIP-seq
MIRT2627894	hsa-miR-320a	CLIP-seq
MIRT2627895	hsa-miR-320b	CLIP-seq
MIRT2627896	hsa-miR-320c	CLIP-seq
MIRT2627897	hsa-miR-320d	CLIP-seq
MIRT2627898	hsa-miR-330-3p	CLIP-seq
MIRT1371199	hsa-miR-335	CLIP-seq
MIRT2691382	hsa-miR-338-5p	CLIP-seq
MIRT2691383	hsa-miR-3591-3p	CLIP-seq
MIRT2691384	hsa-miR-3647-3p	CLIP-seq
MIRT2691385	hsa-miR-3671	CLIP-seq
MIRT2691386	hsa-miR-372	CLIP-seq
MIRT2691387	hsa-miR-373	CLIP-seq
MIRT2627900	hsa-miR-3913-3p	CLIP-seq
MIRT1371229	hsa-miR-3913-5p	CLIP-seq
MIRT2691388	hsa-miR-3942-3p	CLIP-seq
MIRT1371204	hsa-miR-3974	CLIP-seq
MIRT2627902	hsa-miR-3976	CLIP-seq
MIRT2627903	hsa-miR-4258	CLIP-seq
MIRT2691389	hsa-miR-4269	CLIP-seq
MIRT2691390	hsa-miR-429	CLIP-seq
MIRT2627905	hsa-miR-4293	CLIP-seq
MIRT2627906	hsa-miR-4330	CLIP-seq
MIRT2691391	hsa-miR-4420	CLIP-seq
MIRT2627907	hsa-miR-4429	CLIP-seq
MIRT2627908	hsa-miR-4437	CLIP-seq
MIRT1371207	hsa-miR-4457	CLIP-seq
MIRT1371208	hsa-miR-4486	CLIP-seq
MIRT2691392	hsa-miR-452	CLIP-seq
MIRT1371209	hsa-miR-4536	CLIP-seq
MIRT2627910	hsa-miR-4674	CLIP-seq
MIRT2691393	hsa-miR-4676-3p	CLIP-seq
MIRT1371210	hsa-miR-4684-5p	CLIP-seq
MIRT2691394	hsa-miR-4686	CLIP-seq
MIRT2691395	hsa-miR-4691-5p	CLIP-seq
MIRT2627911	hsa-miR-4757-5p	CLIP-seq
MIRT1371211	hsa-miR-4767	CLIP-seq
MIRT2627912	hsa-miR-4786-5p	CLIP-seq
MIRT2627913	hsa-miR-4794	CLIP-seq
MIRT2627914	hsa-miR-489	CLIP-seq
MIRT2627916	hsa-miR-495	CLIP-seq
MIRT2627917	hsa-miR-5096	CLIP-seq
MIRT2691396	hsa-miR-512-3p	CLIP-seq
MIRT1371213	hsa-miR-513b	CLIP-seq
MIRT2691397	hsa-miR-513c	CLIP-seq
MIRT2691398	hsa-miR-514b-5p	CLIP-seq
MIRT2627918	hsa-miR-519d	CLIP-seq
MIRT2691399	hsa-miR-520a-3p	CLIP-seq
MIRT2691400	hsa-miR-520b	CLIP-seq
MIRT2691401	hsa-miR-520c-3p	CLIP-seq
MIRT2691402	hsa-miR-520d-3p	CLIP-seq
MIRT2691403	hsa-miR-520e	CLIP-seq
MIRT2627919	hsa-miR-520g	CLIP-seq
MIRT2627920	hsa-miR-520h	CLIP-seq
MIRT2691404	hsa-miR-532-3p	CLIP-seq
MIRT1371214	hsa-miR-548c-3p	CLIP-seq
MIRT1371217	hsa-miR-585	CLIP-seq
MIRT2627921	hsa-miR-596	CLIP-seq
MIRT2691405	hsa-miR-607	CLIP-seq
MIRT1371218	hsa-miR-624	CLIP-seq
MIRT2627924	hsa-miR-93	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	TAS	25534700
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001649	Process	Osteoblast differentiation	IDA	34948289
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS	9389648
GO:0005515	Function	Protein binding	IPI	15231748, 16189514, 23455924, 25502805, 25609649, 25755279, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	TAS	19018011
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	15514116
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	31800957
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0030154	Process	Cell differentiation	IBA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	31800957
GO:0030509	Process	BMP signaling pathway	ISS	8653785
GO:0030509	Process	BMP signaling pathway	TAS	19018011
GO:0032502	Process	Developmental process	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	14687659
GO:0046872	Function	Metal ion binding	IEA
GO:0048863	Process	Stem cell differentiation	ISS
GO:0060395	Process	SMAD protein signal transduction	IBA
GO:0060395	Process	SMAD protein signal transduction	ISS
GO:0060395	Process	SMAD protein signal transduction	NAS	14687659
GO:0070411	Function	I-SMAD binding	IBA
GO:0071141	Component	SMAD protein complex	NAS	14687659
GO:0071144	Component	Heteromeric SMAD protein complex	IBA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071773	Process	Cellular response to BMP stimulus	NAS	14687659
GO:0141091	Process	Transforming growth factor beta receptor superfamily signaling pathway	IEA

MIM	HGNC	e!Ensembl
603295	6774	ENSG00000120693

O15198

Protein name

Mothers against decapentaplegic homolog 9 (MAD homolog 9) (Mothers against DPP homolog 9) (Madh6) (SMAD family member 9) (SMAD 9) (Smad9)

Protein function

Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).

PDB

6FZT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03165	MH1	34 → 135	MH1 domain	Domain
PF03166	MH2	271 → 443	MH2 domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney.

Sequence

MHSTTPISSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDSLVKKLKKKKGAMDELERALS
CPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLECCEFPFGSK
QKEVCINPYHYRRVETPVLPPVLVPRHSEYNPQLSLLAKFRSASLHSEPLMPHNATYPDS
FQQPPCSALPPSPSHAFSQSPCTASYPHSPGSPSEPESPYQHSVDTPPLPYHATEASETQ
SGQPVDATADRHVVLSIPNGDFRPVCYEEPQHWCSVAYYELNNRVGETFQASSRSVLIDG
FTDPSNNRNRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECVSDSSIFVQSR
NCNYQHGFHPATVCKIPSGCSLKVFNNQLFAQLLAQSVHHGFEVVYELTKMCTIRMSFVK
GWGAEYHRQDVTSTPCWIEIHLHGPLQWLDKVLTQMGSPHNPISSVS

Sequence length

467

Interactions

View interactions

	KEGG		Reactome
	Hormone signaling TGF-beta signaling pathway Signaling pathways regulating pluripotency of stem cells		Signaling by BMP

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pulmonary arterial hypertension associated with congenital heart disease	Likely pathogenic; Pathogenic	rs146583835	RCV000664174	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary hypertension, primary, 2	Pathogenic; Likely pathogenic	rs2138492919, rs765156859, rs2138382043, rs2500815485, rs121918359, rs1162780893, rs553369182, rs781661592, rs397514716	RCV001535922 RCV001783780 RCV001802483 RCV002647649 RCV000006888 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PRIMARY PULMONARY HYPERTENSION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERITABLE PULMONARY ARTERIAL HYPERTENSION	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY HYPERTENSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	confers sensitivity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary hypertension, primary, 1	Uncertain significance; Likely benign; Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SMAD9-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (70)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	19419974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36764297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	36198763	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	12826745	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	15042598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39940786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34110955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	23088614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	30510241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	30510241		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31545230, 37373155	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	35650387	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34725559	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	30617053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	30617053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	BEFREE	21920918, 22374147, 23590310		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial primary pulmonary hypertension	Pulmonary Hypertension	ORPHANET_DG	21920918		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	21920918, 23590310	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial primary pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	26387786		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial primary pulmonary hypertension	Pulmonary Hypertension	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pulmonary arterial hypertension	Pulmonary arterial hypertension	ORPHANET_DG	21920918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31127639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25165192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25165192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartomatous polyposis	Hamartomatous polyposis	GENOMICS_ENGLAND_DG	26122142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heritable pulmonary arterial hypertension	Heritable Pulmonary Arterial Hypertension	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	26820968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19419974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20336693	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	19211612, 19419974, 23590310, 23883380, 28768485, 30180189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	26387786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	22374147		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	26387786		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	36198763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	31127639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	25247416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	12826745	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15042598, 22452883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14996722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	14996722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241, 31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36717825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis	Pubtator	27530160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36539767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	23423222, 27494873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37652257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31525280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15042598, 22452883		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18942118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23590310, 23883380		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	23590310, 26820968, 30180189, 35346192	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	26387786		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension associated with congenital heart disease	Pulmonary Arterial Hypertension Associated With Congenital Heart Disease	CLINVAR_DG	30029678		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary Hypertension, Primary, 1	Pulmonary Hypertension	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia	Pulmonary Hypertension With Hereditary Hemorrhagic Telangiectasia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PULMONARY HYPERTENSION, PRIMARY, 2	Pulmonary Hypertension	UNIPROT_DG	21898662		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY HYPERTENSION, PRIMARY, 2	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	26387786		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY HYPERTENSION, PRIMARY, 2	Pulmonary Hypertension	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28035402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18158559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	29895327, 34954251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SMAD9 (SMAD family member 9)