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	23037
Gene name	PDZ domain containing 2
Gene symbol	PDZD2
Synonyms (NCBI Gene)	AIPCPAPINPDZK3PIN1
Chromosome	5
Chromosome location	5p13.3
Summary	The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018629	hsa-miR-335-5p	Microarray	18185580
MIRT540798	hsa-miR-8485	HITS-CLIP	23313552
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT607141	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT607141	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT621256	hsa-miR-4448	HITS-CLIP	23824327
MIRT621255	hsa-miR-8081	HITS-CLIP	23824327
MIRT621254	hsa-miR-8055	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT621256	hsa-miR-4448	HITS-CLIP	23824327
MIRT621254	hsa-miR-8055	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT621256	hsa-miR-4448	HITS-CLIP	23824327
MIRT621255	hsa-miR-8081	HITS-CLIP	23824327
MIRT621254	hsa-miR-8055	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT626902	hsa-miR-3919	HITS-CLIP	23824327
MIRT626901	hsa-miR-4756-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT607141	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT621256	hsa-miR-4448	HITS-CLIP	23824327
MIRT621255	hsa-miR-8081	HITS-CLIP	23824327
MIRT621254	hsa-miR-8055	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	24906430
MIRT540797	hsa-miR-574-3p	HITS-CLIP	24906430
MIRT607141	hsa-miR-377-3p	HITS-CLIP	24906430
MIRT540798	hsa-miR-8485	HITS-CLIP	24906430
MIRT540797	hsa-miR-574-3p	HITS-CLIP	24906430
MIRT607141	hsa-miR-377-3p	HITS-CLIP	24906430
MIRT540798	hsa-miR-8485	PAR-CLIP	21572407
MIRT540797	hsa-miR-574-3p	PAR-CLIP	21572407
MIRT540796	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540798	hsa-miR-8485	PAR-CLIP	21572407
MIRT540797	hsa-miR-574-3p	PAR-CLIP	21572407
MIRT540796	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540798	hsa-miR-8485	PAR-CLIP	21572407
MIRT540797	hsa-miR-574-3p	PAR-CLIP	21572407
MIRT540796	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540798	hsa-miR-8485	HITS-CLIP	23313552
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT607141	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT607141	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT621256	hsa-miR-4448	HITS-CLIP	23824327
MIRT621255	hsa-miR-8081	HITS-CLIP	23824327
MIRT621254	hsa-miR-8055	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT621256	hsa-miR-4448	HITS-CLIP	23824327
MIRT621254	hsa-miR-8055	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT621256	hsa-miR-4448	HITS-CLIP	23824327
MIRT621255	hsa-miR-8081	HITS-CLIP	23824327
MIRT621254	hsa-miR-8055	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT626902	hsa-miR-3919	HITS-CLIP	23824327
MIRT626901	hsa-miR-4756-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT607141	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT621256	hsa-miR-4448	HITS-CLIP	23824327
MIRT621255	hsa-miR-8081	HITS-CLIP	23824327
MIRT621254	hsa-miR-8055	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	HITS-CLIP	23824327
MIRT540797	hsa-miR-574-3p	HITS-CLIP	23824327
MIRT540796	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT540798	hsa-miR-8485	PAR-CLIP	21572407
MIRT540797	hsa-miR-574-3p	PAR-CLIP	21572407
MIRT540796	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540798	hsa-miR-8485	PAR-CLIP	21572407
MIRT540797	hsa-miR-574-3p	PAR-CLIP	21572407
MIRT540796	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540798	hsa-miR-8485	PAR-CLIP	21572407
MIRT540797	hsa-miR-574-3p	PAR-CLIP	21572407
MIRT540796	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT1224026	hsa-miR-1185	CLIP-seq
MIRT1224027	hsa-miR-124	CLIP-seq
MIRT1224028	hsa-miR-1271	CLIP-seq
MIRT1224029	hsa-miR-182	CLIP-seq
MIRT1224030	hsa-miR-31	CLIP-seq
MIRT1224031	hsa-miR-3127-5p	CLIP-seq
MIRT1224032	hsa-miR-3128	CLIP-seq
MIRT1224033	hsa-miR-3145-5p	CLIP-seq
MIRT1224034	hsa-miR-3147	CLIP-seq
MIRT1224035	hsa-miR-3159	CLIP-seq
MIRT1224036	hsa-miR-3605-5p	CLIP-seq
MIRT1224037	hsa-miR-3646	CLIP-seq
MIRT1224038	hsa-miR-3670	CLIP-seq
MIRT1224039	hsa-miR-3679-5p	CLIP-seq
MIRT1224040	hsa-miR-3688-3p	CLIP-seq
MIRT1224041	hsa-miR-3689a-3p	CLIP-seq
MIRT1224042	hsa-miR-3689c	CLIP-seq
MIRT1224043	hsa-miR-3714	CLIP-seq
MIRT1224044	hsa-miR-3910	CLIP-seq
MIRT1224045	hsa-miR-3918	CLIP-seq
MIRT1224046	hsa-miR-4423-3p	CLIP-seq
MIRT1224047	hsa-miR-4425	CLIP-seq
MIRT1224048	hsa-miR-4426	CLIP-seq
MIRT1224049	hsa-miR-4437	CLIP-seq
MIRT1224050	hsa-miR-4470	CLIP-seq
MIRT1224051	hsa-miR-4487	CLIP-seq
MIRT1224052	hsa-miR-4496	CLIP-seq
MIRT1224053	hsa-miR-4647	CLIP-seq
MIRT1224054	hsa-miR-4662b	CLIP-seq
MIRT1224055	hsa-miR-4705	CLIP-seq
MIRT1224056	hsa-miR-4747-5p	CLIP-seq
MIRT1224057	hsa-miR-4781-3p	CLIP-seq
MIRT1224058	hsa-miR-506	CLIP-seq
MIRT1224059	hsa-miR-508-5p	CLIP-seq
MIRT1224060	hsa-miR-567	CLIP-seq
MIRT1224061	hsa-miR-570	CLIP-seq
MIRT1224062	hsa-miR-95	CLIP-seq
MIRT1224063	hsa-miR-96	CLIP-seq
MIRT1224028	hsa-miR-1271	CLIP-seq
MIRT1224029	hsa-miR-182	CLIP-seq
MIRT1224050	hsa-miR-4470	CLIP-seq
MIRT1224052	hsa-miR-4496	CLIP-seq
MIRT1224061	hsa-miR-570	CLIP-seq
MIRT1552210	hsa-miR-944	CLIP-seq
MIRT1224063	hsa-miR-96	CLIP-seq
MIRT2065295	hsa-miR-1225-5p	CLIP-seq
MIRT1224028	hsa-miR-1271	CLIP-seq
MIRT1224029	hsa-miR-182	CLIP-seq
MIRT2065296	hsa-miR-3173-3p	CLIP-seq
MIRT1224050	hsa-miR-4470	CLIP-seq
MIRT1224052	hsa-miR-4496	CLIP-seq
MIRT2065297	hsa-miR-4699-3p	CLIP-seq
MIRT2065298	hsa-miR-548ae	CLIP-seq
MIRT2065299	hsa-miR-548aj	CLIP-seq
MIRT2065300	hsa-miR-548am	CLIP-seq
MIRT2065301	hsa-miR-548x	CLIP-seq
MIRT1224061	hsa-miR-570	CLIP-seq
MIRT1224063	hsa-miR-96	CLIP-seq
MIRT2293100	hsa-miR-105	CLIP-seq
MIRT2293101	hsa-miR-1197	CLIP-seq
MIRT2293102	hsa-miR-1234	CLIP-seq
MIRT2293103	hsa-miR-1252	CLIP-seq
MIRT2293104	hsa-miR-1262	CLIP-seq
MIRT2293105	hsa-miR-154	CLIP-seq
MIRT2293106	hsa-miR-183	CLIP-seq
MIRT2293107	hsa-miR-186	CLIP-seq
MIRT2293108	hsa-miR-187	CLIP-seq
MIRT2293109	hsa-miR-199a-5p	CLIP-seq
MIRT2293110	hsa-miR-199b-5p	CLIP-seq
MIRT2293111	hsa-miR-224	CLIP-seq
MIRT2293112	hsa-miR-23a	CLIP-seq
MIRT2293113	hsa-miR-23b	CLIP-seq
MIRT2293114	hsa-miR-23c	CLIP-seq
MIRT2293115	hsa-miR-299-5p	CLIP-seq
MIRT2293116	hsa-miR-3120-5p	CLIP-seq
MIRT2293117	hsa-miR-3133	CLIP-seq
MIRT2293118	hsa-miR-3158-3p	CLIP-seq
MIRT2293119	hsa-miR-3171	CLIP-seq
MIRT2293120	hsa-miR-3187-3p	CLIP-seq
MIRT2293121	hsa-miR-320a	CLIP-seq
MIRT2293122	hsa-miR-320b	CLIP-seq
MIRT2293123	hsa-miR-320c	CLIP-seq
MIRT2293124	hsa-miR-320d	CLIP-seq
MIRT2293125	hsa-miR-3591-5p	CLIP-seq
MIRT2293126	hsa-miR-3682-3p	CLIP-seq
MIRT2293127	hsa-miR-3914	CLIP-seq
MIRT2293128	hsa-miR-4255	CLIP-seq
MIRT2293129	hsa-miR-4418	CLIP-seq
MIRT2293130	hsa-miR-4421	CLIP-seq
MIRT2293131	hsa-miR-4429	CLIP-seq
MIRT2293132	hsa-miR-4435	CLIP-seq
MIRT2293133	hsa-miR-4446-3p	CLIP-seq
MIRT1224050	hsa-miR-4470	CLIP-seq
MIRT2293134	hsa-miR-4528	CLIP-seq
MIRT2293135	hsa-miR-4639-3p	CLIP-seq
MIRT2293136	hsa-miR-4648	CLIP-seq
MIRT2293137	hsa-miR-4654	CLIP-seq
MIRT2065297	hsa-miR-4699-3p	CLIP-seq
MIRT2293138	hsa-miR-4701-3p	CLIP-seq
MIRT2293139	hsa-miR-4701-5p	CLIP-seq
MIRT2293140	hsa-miR-4769-5p	CLIP-seq
MIRT2293141	hsa-miR-4789-3p	CLIP-seq
MIRT2293142	hsa-miR-508-3p	CLIP-seq
MIRT2293143	hsa-miR-509-3-5p	CLIP-seq
MIRT2293144	hsa-miR-509-5p	CLIP-seq
MIRT2293145	hsa-miR-520d-5p	CLIP-seq
MIRT2293146	hsa-miR-524-5p	CLIP-seq
MIRT2293147	hsa-miR-548s	CLIP-seq
MIRT2293148	hsa-miR-588	CLIP-seq
MIRT2293149	hsa-miR-595	CLIP-seq
MIRT2293150	hsa-miR-616	CLIP-seq
MIRT2293151	hsa-miR-661	CLIP-seq
MIRT2293152	hsa-miR-891b	CLIP-seq
MIRT1552210	hsa-miR-944	CLIP-seq
MIRT2456199	hsa-miR-1273f	CLIP-seq
MIRT2456200	hsa-miR-143	CLIP-seq
MIRT2456201	hsa-miR-147	CLIP-seq
MIRT1224040	hsa-miR-3688-3p	CLIP-seq
MIRT2456202	hsa-miR-3911	CLIP-seq
MIRT1224048	hsa-miR-4426	CLIP-seq
MIRT1224053	hsa-miR-4647	CLIP-seq
MIRT2293136	hsa-miR-4648	CLIP-seq
MIRT2293137	hsa-miR-4654	CLIP-seq
MIRT1224054	hsa-miR-4662b	CLIP-seq
MIRT2456203	hsa-miR-4708-5p	CLIP-seq
MIRT1224056	hsa-miR-4747-5p	CLIP-seq
MIRT2293140	hsa-miR-4769-5p	CLIP-seq
MIRT2456204	hsa-miR-4770	CLIP-seq
MIRT2456205	hsa-miR-576-3p	CLIP-seq
MIRT2456206	hsa-miR-644	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS	12671685
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	12671685
GO:0005737	Component	Cytoplasm	IDA	11289102
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS	12671685
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005911	Component	Cell-cell junction	ISS	12671685
GO:0007155	Process	Cell adhesion	IEA
GO:0034451	Component	Centriolar satellite	IDA

MIM	HGNC	e!Ensembl
610697	18486	ENSG00000133401

O15018

Protein name

PDZ domain-containing protein 2 (Activated in prostate cancer protein) (PDZ domain-containing protein 3) [Cleaved into: Processed PDZ domain-containing protein 2]

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	334 → 416	PDZ domain	Domain
PF00595	PDZ	587 → 671	PDZ domain	Domain
PF00595	PDZ	728 → 811	PDZ domain	Domain
PF00595	PDZ	2623 → 2697	PDZ domain	Domain
PF00595	PDZ	2751 → 2833	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 2 is expressed (at protein level) in prostate and many prostate tumors. {ECO:0000269|PubMed:11289102}.

Sequence

MPITQDNAVLHLPLLYQWLQNSLQEGGDGPEQRLCQAAIQKLQEYIQLNFAVDESTVPPD
HSPPEMEICTVYLTKELGDTETVGLSFGNIPVFGDYGEKRRGGKKRKTHQGPVLDVGCIW
VTELRKNSPAGKSGKVRLRDEILSLNGQLMVGVDVSGASYLAEQCWNGGFIYLIMLRRFK
HKAHSTYNGNSSNSSEPGETPTLELGDRTAKKGKRTRKFGVISRPPANKAPEESKGSAGC
EVSSDPSTELENGPDPELGNGHVFQLENGPDSLKEVAGPHLERSEVDRGTEHRIPKTDAP
LTTSNDKRRFSKGGKTDFQSSDCLAREEVGRIWKMELLKESDGLGIQVSGGRGSKRSPHA
IVVTQVKEGGAAHRDGRLSLGDELLVINGHLLVGLSHEEAVAILRSATGMVQLVVASKEN
SAEDLLRLTSKSLPDLTSSVEDVSSWTDNEDQEADGEEDEGTSSSVQRAMPGTDEPQDVC
GAEESKGNLESPKQGSNKIKLKSRLSGGVHRLESVEEYNELMVRNGDPRIRMLEVSRDGR
KHSLPQLLDSSSASQEYHIVKKSTRSLSTTQVESPWRLIRPSVISIIGLYKEKGKGLGFS
IAGGRDCIRGQMGIFVKTIFPNGSAAEDGRLKEGDEILDVNGIPIKGLTFQEAIHTFKQI
RSGLFVLTVRTKLVSPSLTPCSTPTHMSRSASPNFNTSGGASAGGSDEGSSSSLGRKTPG
PKDRIVMEVTLNKEPRVGLGIGACCLALENSPPGIYIHSLAPGSVAKMESNLSRGDQILE
VNSVNVRHAALSKVHAILSKCPPGPVRLVIGRHPNPKVSEQEMDEVIARSTYQESKEANS
SPGLGTPLKSPSLAKKDSLISESELSQYFAHDVPGPLSDFMVAGSEDEDHPGSGCSTSEE
GSLPPSTSTHKEPGKPRANSLVTLGSHRASGLFHKQVTVARQASLPGSPQALRNPLLRQR
KVGCYDANDASDEEEFDREGDCISLPGALPGPIRPLSEDDPRRVSISSSKGMDVHNQEER
PRKTLVSKAISAPLLGSSVDLEESIPEGMVDAASYAANLTDSAEAPKGSPGSWWKKELSG
SSSAPKLEYTVRTDTQSPTNTGSPSSPQQKSEGLGSRHRPVARVSPHCKRSEAEAKPSGS
QTVNLTGRANDPCDLDSRVQATSVKVTVAGFQPGGAVEKESLGKLTTGDACVSTSCELAS
ALSHLDASHLTENLPKAASELGQQPMTELDSSSDLISSPGKKGAAHPDPSKTSVDTGQVS
RPENPSQPASPRVTKCKARSPVRLPHEGSPSPGEKAAAPPDYSKTRSASETSTPHNTRRV
AALRGAGPGAEGMTPAGAVLPGDPLTSQEQRQGAPGNHSKALEMTGIHAPESSQEPSLLE
GADSVSSRAPQASLSMLPSTDNTKEACGHVSGHCCPGGSRESPVTDIDSFIKELDASAAR
SPSSQTGDSGSQEGSAQGHPPAGAGGGSSCRAEPVPGGQTSSPRRAWAAGAPAYPQWASQ
PSVLDSINPDKHFTVNKNFLSNYSRNFSSFHEDSTSLSGLGDSTEPSLSSMYGDAEDSSS
DPESLTEAPRASARDGWSPPRSRVSLHKEDPSESEEEQIEICSTRGCPNPPSSPAHLPTQ
AAICPASAKVLSLKYSTPRESVASPREKAACLPGSYTSGPDSSQPSSLLEMSSQEHETHA
DISTSQNHRPSCAEETTEVTSASSAMENSPLSKVARHFHSPPIILSSPNMVNGLEHDLLD
DETLNQYETSINAAASLSSFSVDVPKNGESVLENLHISESQDLDDLLQKPKMIARRPIMA
WFKEINKHNQGTHLRSKTEKEQPLMPARSPDSKIQMVSSSQKKGVTVPHSPPQPKTNLEN
KDLSKKSPAEMLLTNGQKAKCGPKLKRLSLKGKAKVNSEAPAANAVKAGGTDHRKPLISP
QTSHKTLSKAVSQRLHVADHEDPDRNTTAAPRSPQCVLESKPPLATSGPLKPSVSDTSIR
TFVSPLTSPKPVPEQGMWSRFHMAVLSEPDRGCPTTPKSPKCRAEGRAPRADSGPVSPAA
SRNGMSVAGNRQSEPRLASHVAADTAQPRPTGEKGGNIMASDRLERTNQLKIVEISAEAV
SETVCGNKPAESDRRGGCLAQGNCQEKSEIRLYRQVAESSTSHPSSLPSHASQAEQEMSR
SFSMAKLASSSSSLQTAIRKAEYSQGKSSLMSDSRGVPRNSIPGGPSGEDHLYFTPRPAT
RTYSMPAQFSSHFGREGHPPHSLGRSRDSQVPVTSSVVPEAKASRGGLPSLANGQGIYSV
KPLLDTSRNLPATDEGDIISVQETSCLVTDKIKVTRRHYCYEQNWPHESTSFFSVKQRIK
SFENLANADRPVAKSGASPFLSVSSKPPIGRRSSGSIVSGSLGHPGDAAARLLRRSLSSC
SENQSEAGTLLPQMAKSPSIMTLTISRQNPPETSSKGSDSELKKSLGPLGIPTPTMTLAS
PVKRNKSSVRHTQPSPVSRSKLQELRALSMPDLDKLCSEDYSAGPSAVLFKTELEITPRR
SPGPPAGGVSCPEKGGNRACPGGSGPKTSAAETPSSASDTGEAAQDLPFRRSWSVNLDQL
LVSAGDQQRLQSVLSSVGSKSTILTLIQEAKAQSENEEDVCFIVLNRKEGSGLGFSVAGG
TDVEPKSITVHRVFSQGAASQEGTMNRGDFLLSVNGASLAGLAHGNVLKVLHQAQLHKDA
LVVIKKGMDQPRPSARQEPPTANGKGLLSRKTIPLEPGIGRSVAVHDALCVEVLKTSAGL
GLSLDGGKSSVTGDGPLVIKRVYKGGAAEQAGIIEAGDEILAINGKPLVGLMHFDAWNIM
KSVPEGPVQLLIRKHRNSS

Sequence length

2839

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 (26)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDZD2-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (235)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	20376080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	25849135, 29848341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26752745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	16865250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	LHGDN	16865250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	23096908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	28167297, 30314361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	19338781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11432833, 16384626, 17482359, 19909517, 20580132, 22184106, 23697802, 29775635, 38554950	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	21243369	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	16554819, 17482359, 22261503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	25583562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18635547, 19940183, 30577465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	18635547		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30355620, 31148345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	32347623	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29269260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	BEFREE	30007339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28300760, 28986099, 29545340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17965833, 18188456, 29286102, 29686383, 31679253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	28125291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28300760, 28986099, 29545340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	29545340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27159270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	29545340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	27225727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	30314361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11432833, 11533658, 12101225, 12631385, 18794148, 19077306, 19448664, 19668231, 19671742, 20033770, 20179161, 20804812, 21497122, 21741598, 21745146 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19671742, 19681904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11432833, 12101225, 15111319	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18039859, 18676833, 19077306, 19681904, 20033770, 20180533, 21573702, 22580604, 23390529, 23542176, 24072701, 25675300, 25818297, 28678584, 31015482, 32193285, 32961044 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19619441, 22608923, 23708493, 25160749, 25818297, 30442923, 31015482, 32127141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	37833434	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	37833434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26461058, 26643892, 29118189, 30170446, 31324164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	37833434	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20009523, 21850685, 22115795, 26752745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36834887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26918600, 27229762, 35718636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24715170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29746956, 30389635, 30697729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	BEFREE	31148345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28506742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36012132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	40442227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	25558977		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	16865248, 26820938, 31460012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	16865248, 26820938, 31460012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30373671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28167297, 30314361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	BEFREE	17518371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19770516, 27876426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29394082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	29394082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	26918600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	23702614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26784107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25982393, 30244946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16124054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16124054, 25982393, 27008710, 29925895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30170446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	BEFREE	23702614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23487407, 29018025, 29286102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21764651, 26918600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	33358249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	30007339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	30442923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	15474361		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	26944164		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	Pubtator	33300824	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	26583846, 29849865, 30096758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26583846, 29849865, 30096758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33148187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30096758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31367234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	30442923		★★★★★ ★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	24569166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30684192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29746956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	23054026, 23982872, 28325828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	23982872, 28325828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25160749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	26497355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	30789902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	30789902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	30789902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23112047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	37240193	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	23112047, 31795496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	29750576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	23112047, 24530597, 31795496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	15095272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	19909517, 26944164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	21243369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	30610554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17938171, 19668231, 30314361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	17938171, 32592588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17938171, 19668231, 28791366, 30314361		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	17938171, 23708493		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	17938171, 23708493, 32592588, 38167292	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	23487407, 29018025, 29286102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	19131583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	26643892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	30170446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28533744, 29676205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	26583846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Secondary	Hyperparathyroidism	Pubtator	27600827, 27876426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	19770516, 27600827, 27876426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	33148187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28506742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	23096908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	23096908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	16428447, 20622153		★★★★★ ★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	30896877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25558977, 28617078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	24173213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	29768138		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19458071, 29848341, 31024166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20376080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20376080, 34047175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	36813923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19155306, 20376080, 29848341, 29996897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	19338781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	26477796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15064734, 16841372, 17383430, 19168580, 22549912, 23982872, 25109821, 25742740, 26461058, 26643892, 27499097, 28018099, 28076852, 28262728, 28383568 View all (10 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16476580, 17393110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30170446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	30170446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26752745, 28592245, 33162791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27159270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19619441, 24072701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	24528284		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	11432833, 11533658, 12101225, 12631385, 18794148, 19077306, 19448664, 19668231, 19671742, 20033770, 20179161, 20804812, 21497122, 21741598, 21745146 View all (20 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19671742, 19681904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	23982872, 28325828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	30610554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	21764651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29170140, 30170446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20009523, 21850685, 22115795, 26752745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	26477796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30389635, 30697729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30355620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16243827, 16428447, 17437439, 21809350, 24915000, 26039047, 26497355, 29288531, 30899433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16907857, 25280783, 31026381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11432833, 12101225, 12571275, 12631385, 16449657, 16865248, 1719800, 17624454, 17965833, 18794148, 19151708, 19458071, 19519301, 19846884, 20009523 View all (62 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	16865248, 26820938, 31460012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26784107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	30158600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19671742, 19681904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12101225, 22566623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16449657, 18039859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19671742, 19681904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19671742, 19681904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28167297, 30314361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15111319	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23067222, 29750576, 30442923, 31396346, 31810919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26279295, 30442923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	30442923	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30096758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	31614723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	26279295, 30442923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	16945100, 17361031, 18007120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	15788397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	21243369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASCAT_DG	26708285		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23269625, 27258148, 28032861, 28676695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28676695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11289102, 12571275, 16428447, 16449657, 16865250, 17516585, 17518371, 20009523, 21497122, 21764651, 22064478, 22580604, 22842120, 23934277, 24915000 View all (27 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	27932480	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16972081, 17624454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	16972081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	19909517, 31614723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	12540053, 18635547, 19940183, 20110589, 25132079, 28203298, 28426725, 29860071, 30460195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	18635547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20009523, 20023388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	23112047, 31795496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30096758, 30893596		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	30896877		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30389635, 30697729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30355620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31148345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32347623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36834887	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	17518371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	15095272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21243369, 23754278, 29676205		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontal Diseases	Periodontal Diseases	BEFREE	25512367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	25512367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	31570735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	LHGDN	14572447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	26944164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26876201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	30096758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	26944164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	17518371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	17518371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	21243369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	32193285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16243827, 16428447, 17437439, 21809350, 24915000, 26039047, 26497355, 29288531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	1719800, 8958309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	11289102, 16243827, 29288531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15111319, 16873542, 22894932, 24915000, 30595538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16428447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29394082	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Eosinophilia	Pulmonary Eosinophilia	BEFREE	17720236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18188456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	21764651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21764651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASDB_DG	23184150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASCAT_DG	23184150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19846884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacral defect and anterior sacral meningocele	Sacral defect	Pubtator	28007035, 35274497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	29925895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31736979		★★★★★ ★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	29269260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	20033770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12579289, 12792768, 25335736, 26381174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12579289, 12792768, 16820873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16820873, 25160749, 29605603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19625347, 20033770, 25335736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	26917410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19625347, 20033770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23112047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16907857, 25280783, 31026381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26330360, 28481868, 31570735, 32703934, 37929660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	12891359, 16554819, 18431510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	20622153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	29545340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27029791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	15095272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28678584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28678584, 36813923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30606896, 32127141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29849865		★★★★★ ★☆☆☆☆ Found in Text Mining only

PDZD2 (PDZ domain containing 2)