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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	338321
Gene name	NLR family pyrin domain containing 9
Gene symbol	NLRP9
Synonyms (NCBI Gene)	CLR19.1NALP9NOD6PAN12
Chromosome	19
Chromosome location	19q13.42
Summary	The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD).

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Show/Hide all (248)

miRTarBase ID	miRNA	Experiments	Reference
MIRT517359	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT517356	hsa-miR-4648	HITS-CLIP	21572407
MIRT517355	hsa-miR-1233-5p	HITS-CLIP	21572407
MIRT517354	hsa-miR-6778-5p	HITS-CLIP	21572407
MIRT517353	hsa-miR-4654	HITS-CLIP	21572407
MIRT517352	hsa-miR-4769-5p	HITS-CLIP	21572407
MIRT517351	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551250	hsa-miR-4265	HITS-CLIP	21572407
MIRT551249	hsa-miR-4296	HITS-CLIP	21572407
MIRT551248	hsa-miR-4322	HITS-CLIP	21572407
MIRT551247	hsa-miR-6796-5p	HITS-CLIP	21572407
MIRT551246	hsa-miR-6759-5p	HITS-CLIP	21572407
MIRT517349	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT517359	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT517356	hsa-miR-4648	HITS-CLIP	21572407
MIRT517355	hsa-miR-1233-5p	HITS-CLIP	21572407
MIRT517354	hsa-miR-6778-5p	HITS-CLIP	21572407
MIRT517353	hsa-miR-4654	HITS-CLIP	21572407
MIRT517352	hsa-miR-4769-5p	HITS-CLIP	21572407
MIRT517351	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551250	hsa-miR-4265	HITS-CLIP	21572407
MIRT551249	hsa-miR-4296	HITS-CLIP	21572407
MIRT551248	hsa-miR-4322	HITS-CLIP	21572407
MIRT551247	hsa-miR-6796-5p	HITS-CLIP	21572407
MIRT551246	hsa-miR-6759-5p	HITS-CLIP	21572407
MIRT517349	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT694326	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT694325	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT694324	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT694323	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT694322	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT694321	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT694320	hsa-miR-4486	HITS-CLIP	23313552
MIRT694319	hsa-miR-5186	HITS-CLIP	23313552
MIRT694318	hsa-miR-4252	HITS-CLIP	23313552
MIRT694317	hsa-miR-661	HITS-CLIP	23313552
MIRT694316	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT694315	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT694314	hsa-miR-1227-3p	HITS-CLIP	23313552
MIRT694313	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT694312	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT458062	hsa-miR-7703	HITS-CLIP	23313552
MIRT694311	hsa-miR-550b-2-5p	HITS-CLIP	23313552
MIRT619929	hsa-miR-5193	HITS-CLIP	23824327
MIRT619928	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT619927	hsa-miR-3183	HITS-CLIP	23824327
MIRT619926	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT619925	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT619923	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT619922	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT619921	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619920	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619919	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619918	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT619917	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619916	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT619915	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT619914	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT619913	hsa-miR-1281	HITS-CLIP	23824327
MIRT619929	hsa-miR-5193	HITS-CLIP	23824327
MIRT619928	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT619927	hsa-miR-3183	HITS-CLIP	23824327
MIRT619926	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT619925	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT619924	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619923	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT619922	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT619921	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619920	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619919	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619918	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT619917	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619916	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT619915	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT619914	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT619913	hsa-miR-1281	HITS-CLIP	23824327
MIRT517359	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT517356	hsa-miR-4648	PAR-CLIP	21572407
MIRT517355	hsa-miR-1233-5p	PAR-CLIP	21572407
MIRT517354	hsa-miR-6778-5p	PAR-CLIP	21572407
MIRT517353	hsa-miR-4654	PAR-CLIP	21572407
MIRT517352	hsa-miR-4769-5p	PAR-CLIP	21572407
MIRT517351	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT551250	hsa-miR-4265	PAR-CLIP	21572407
MIRT551249	hsa-miR-4296	PAR-CLIP	21572407
MIRT551248	hsa-miR-4322	PAR-CLIP	21572407
MIRT551247	hsa-miR-6796-5p	PAR-CLIP	21572407
MIRT551246	hsa-miR-6759-5p	PAR-CLIP	21572407
MIRT517349	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT517358	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT517359	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT517357	hsa-miR-3659	PAR-CLIP	23446348
MIRT517356	hsa-miR-4648	PAR-CLIP	23446348
MIRT517355	hsa-miR-1233-5p	PAR-CLIP	23446348
MIRT517354	hsa-miR-6778-5p	PAR-CLIP	23446348
MIRT517353	hsa-miR-4654	PAR-CLIP	23446348
MIRT517352	hsa-miR-4769-5p	PAR-CLIP	23446348
MIRT517351	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT517350	hsa-miR-1303	PAR-CLIP	23446348
MIRT517349	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT458072	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT458070	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT458069	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT458068	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT458067	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT458066	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT458064	hsa-miR-4537	PAR-CLIP	23592263
MIRT458065	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT458063	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT458062	hsa-miR-7703	PAR-CLIP	23592263
MIRT458061	hsa-miR-4325	PAR-CLIP	23592263
MIRT458060	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT458059	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT458072	hsa-miR-25-3p	PAR-CLIP	27292025
MIRT458070	hsa-miR-32-5p	PAR-CLIP	27292025
MIRT458069	hsa-miR-363-3p	PAR-CLIP	27292025
MIRT458068	hsa-miR-367-3p	PAR-CLIP	27292025
MIRT458061	hsa-miR-4325	PAR-CLIP	27292025
MIRT458064	hsa-miR-4537	PAR-CLIP	27292025
MIRT458060	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT694326	hsa-miR-508-5p	PAR-CLIP	27292025
MIRT458063	hsa-miR-6499-3p	PAR-CLIP	27292025
MIRT458059	hsa-miR-6516-5p	PAR-CLIP	27292025
MIRT694322	hsa-miR-766-3p	PAR-CLIP	27292025
MIRT458065	hsa-miR-767-5p	PAR-CLIP	27292025
MIRT458062	hsa-miR-7703	PAR-CLIP	27292025
MIRT458067	hsa-miR-92a-3p	PAR-CLIP	27292025
MIRT458066	hsa-miR-92b-3p	PAR-CLIP	27292025
MIRT517359	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT517356	hsa-miR-4648	HITS-CLIP	21572407
MIRT517355	hsa-miR-1233-5p	HITS-CLIP	21572407
MIRT517354	hsa-miR-6778-5p	HITS-CLIP	21572407
MIRT517353	hsa-miR-4654	HITS-CLIP	21572407
MIRT517352	hsa-miR-4769-5p	HITS-CLIP	21572407
MIRT517351	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551250	hsa-miR-4265	HITS-CLIP	21572407
MIRT551249	hsa-miR-4296	HITS-CLIP	21572407
MIRT551248	hsa-miR-4322	HITS-CLIP	21572407
MIRT551247	hsa-miR-6796-5p	HITS-CLIP	21572407
MIRT551246	hsa-miR-6759-5p	HITS-CLIP	21572407
MIRT517349	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT517359	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT517356	hsa-miR-4648	HITS-CLIP	21572407
MIRT517355	hsa-miR-1233-5p	HITS-CLIP	21572407
MIRT517354	hsa-miR-6778-5p	HITS-CLIP	21572407
MIRT517353	hsa-miR-4654	HITS-CLIP	21572407
MIRT517352	hsa-miR-4769-5p	HITS-CLIP	21572407
MIRT517351	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551250	hsa-miR-4265	HITS-CLIP	21572407
MIRT551249	hsa-miR-4296	HITS-CLIP	21572407
MIRT551248	hsa-miR-4322	HITS-CLIP	21572407
MIRT551247	hsa-miR-6796-5p	HITS-CLIP	21572407
MIRT551246	hsa-miR-6759-5p	HITS-CLIP	21572407
MIRT517349	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT694326	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT694325	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT694324	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT694323	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT694322	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT694321	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT694320	hsa-miR-4486	HITS-CLIP	23313552
MIRT694319	hsa-miR-5186	HITS-CLIP	23313552
MIRT694318	hsa-miR-4252	HITS-CLIP	23313552
MIRT694317	hsa-miR-661	HITS-CLIP	23313552
MIRT694316	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT694315	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT694314	hsa-miR-1227-3p	HITS-CLIP	23313552
MIRT694313	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT694312	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT458062	hsa-miR-7703	HITS-CLIP	23313552
MIRT694311	hsa-miR-550b-2-5p	HITS-CLIP	23313552
MIRT619929	hsa-miR-5193	HITS-CLIP	23824327
MIRT619928	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT619927	hsa-miR-3183	HITS-CLIP	23824327
MIRT619926	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT619925	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT619923	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT619922	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT619921	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619920	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619919	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619918	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT619917	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619916	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT619915	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT619914	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT619913	hsa-miR-1281	HITS-CLIP	23824327
MIRT619929	hsa-miR-5193	HITS-CLIP	23824327
MIRT619928	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT619927	hsa-miR-3183	HITS-CLIP	23824327
MIRT619926	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT619925	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT619924	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT619923	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT619922	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT619921	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619920	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619919	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619918	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT619917	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT619916	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT619915	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT619914	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT619913	hsa-miR-1281	HITS-CLIP	23824327
MIRT517359	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT517356	hsa-miR-4648	PAR-CLIP	21572407
MIRT517355	hsa-miR-1233-5p	PAR-CLIP	21572407
MIRT517354	hsa-miR-6778-5p	PAR-CLIP	21572407
MIRT517353	hsa-miR-4654	PAR-CLIP	21572407
MIRT517352	hsa-miR-4769-5p	PAR-CLIP	21572407
MIRT517351	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT551250	hsa-miR-4265	PAR-CLIP	21572407
MIRT551249	hsa-miR-4296	PAR-CLIP	21572407
MIRT551248	hsa-miR-4322	PAR-CLIP	21572407
MIRT551247	hsa-miR-6796-5p	PAR-CLIP	21572407
MIRT551246	hsa-miR-6759-5p	PAR-CLIP	21572407
MIRT517349	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT517358	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT517359	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT517357	hsa-miR-3659	PAR-CLIP	23446348
MIRT517356	hsa-miR-4648	PAR-CLIP	23446348
MIRT517355	hsa-miR-1233-5p	PAR-CLIP	23446348
MIRT517354	hsa-miR-6778-5p	PAR-CLIP	23446348
MIRT517353	hsa-miR-4654	PAR-CLIP	23446348
MIRT517352	hsa-miR-4769-5p	PAR-CLIP	23446348
MIRT517351	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT517350	hsa-miR-1303	PAR-CLIP	23446348
MIRT517349	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT458072	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT458070	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT458069	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT458068	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT458067	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT458066	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT458064	hsa-miR-4537	PAR-CLIP	23592263
MIRT458065	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT458063	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT458062	hsa-miR-7703	PAR-CLIP	23592263
MIRT458061	hsa-miR-4325	PAR-CLIP	23592263
MIRT458060	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT458059	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT1187319	hsa-miR-329	CLIP-seq
MIRT1187320	hsa-miR-3617	CLIP-seq
MIRT1187321	hsa-miR-362-3p	CLIP-seq
MIRT1187322	hsa-miR-3941	CLIP-seq
MIRT1187323	hsa-miR-603	CLIP-seq
MIRT1187324	hsa-miR-641	CLIP-seq
MIRT1187325	hsa-miR-885-5p	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	28636595
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0032741	Process	Positive regulation of interleukin-18 production	ISS
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	ISS
GO:0050727	Process	Regulation of inflammatory response	IBA
GO:0051607	Process	Defense response to virus	ISS
GO:0061702	Component	Canonical inflammasome complex	IBA
GO:0061702	Component	Canonical inflammasome complex	IDA	28636595
GO:0061702	Component	Canonical inflammasome complex	IEA
GO:0070269	Process	Pyroptotic inflammatory response	ISS

MIM	HGNC	e!Ensembl
609663	22941	ENSG00000185792

Q7RTR0

Protein name

NACHT, LRR and PYD domains-containing protein 9 (Nucleotide-binding oligomerization domain protein 6) (PYRIN and NACHT-containing protein 12)

Protein function

As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and

PDB

6Z2G , 7BSO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02758	PYRIN	10 → 86	PAAD/DAPIN/Pyrin domain	Domain
PF05729	NACHT	146 → 314	NACHT domain	Domain
PF17779	NOD2_WH	390 → 443	NOD2 winged helix domain	Domain
PF17776	NLRC4_HD2	445 → 560	NLRC4 helical domain HD2	Domain
PF13516	LRR_6	740 → 763	Leucine Rich repeat	Repeat
PF13516	LRR_6	854 → 877	Leucine Rich repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in ileum intestinal epithelial cells. Not detected in peripheral blood mononuclear cells (PubMed:28636595). Expressed in cerebral endothelial cells and, at much lower levels, in brain pericytes (PubMed:28432035). {ECO:0000269

Sequence

MAESFFSDFGLLWYLKELRKEEFWKFKELLKQPLEKFELKPIPWAELKKASKEDVAKLLD
KHYPGKQAWEVTLNLFLQINRKDLWTKAQEEMRNKLNPYRKHMKETFQLIWEKETCLHVP
EHFYKETMKNEYKELNDAYTAAARRHTVVLEGPDGIGKTTLLRKVMLDWAEGNLWKDRFT
FVFFLNVCEMNGIAETSLLELLSRDWPESSEKIEDIFSQPERILFIMDGFEQLKFNLQLK
ADLSDDWRQRQPMPIILSSLLQKKMLPESSLLIALGKLAMQKHYFMLRHPKLIKLLGFSE
SEKKSYFSYFFGEKSKALKVFNFVRDNGPLFILCHNPFTCWLVCTCVKQRLERGEDLEIN
SQNTTYLYASFLTTVFKAGSQSFPPKVNRARLKSLCALAAEGIWTYTFVFSHGDLRRNGL
SESEGVMWVGMRLLQRRGDCFAFMHLCIQEFCAAMFYLLKRPKDDPNPAIGSITQLVRAS
VVQPQTLLTQVGIFMFGISTEEIVSMLETSFGFPLSKDLKQEITQCLESLSQCEADREAI
AFQELFIGLFETQEKEFVTKVMNFFEEVFIYIGNIEHLVIASFCLKHCQHLTTLRMCVEN
IFPDDSGCISDYNEKLVYWRELCSMFITNKNFQILDMENTSLDDPSLAILCKALAQPVCK
LRKLIFTSVYFGHDSELFKAVLHNPHLKLLSLYGTSLSQSDIRHLCETLKHPMCKIEELI
LGKCDISSEVCEDIASVLACNSKLKHLSLVENPLRDEGMTLLCEALKHSHCALERLMLMY
CCLTSVSCDSISEVLLCSKSLSLLDLGSNALEDNGVASLCAALKHPGCSIRELWLMGCFL
TSDSCKDIAAVLICNGKLKTLKLGHNEIGDTGVRQLCAALQHPHCKLECLGLQTCPITRA
CCDDIAAALIACKTLRSLNLDWIALDADAVVVLCEALSHPDCALQMLGLHKSGFDEETQK
ILMSVEEKIPHLTISHGPWIDEEYKIRGVLL

Sequence length

991

Interactions

View interactions

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 Unknown Diseases (7)

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	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital stationary night blindness	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anodontia	Anodontia	Pubtator	34257569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34257569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35229543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	35459784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	34257569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28888400		★★★★★ ★☆☆☆☆ Found in Text Mining only

NLRP9 (NLR family pyrin domain containing 9)