ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5167
• Gene name: Ectonucleotide pyrophosphatase/phosphodiesterase 1
• Gene symbol: ENPP1
• Synonyms (NCBI Gene): ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1
• Chromosome: 6
• Chromosome location: 6q23.2
• Summary: This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a

SNPs Show/Hide all (29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1044498	A>C,G	Risk-factor, benign	Coding sequence variant, missense variant
rs7754561	A>G	Benign, risk-factor	3 prime UTR variant
rs73541508	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121908248	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs121908249	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121918023	G>T	Pathogenic	Stop gained, coding sequence variant
rs121918024	G>C	Pathogenic	Missense variant, coding sequence variant
rs121918025	G>T	Pathogenic	Missense variant, coding sequence variant
rs121918026	A>T	Pathogenic	Missense variant, coding sequence variant
rs142835743	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149828062	G>A	Likely-pathogenic	Splice acceptor variant
rs267606784	C>G	Pathogenic	Coding sequence variant, stop gained
rs373044722	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs374270497	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs387906673	G>C	Pathogenic	Missense variant, coding sequence variant
rs397518475	G>A	Pathogenic	Missense variant, coding sequence variant
rs397518476	G>C	Pathogenic	Missense variant, coding sequence variant
rs397518477	G>C	Pathogenic	Missense variant, coding sequence variant
rs548504035	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587776797	->A	Pathogenic	Frameshift variant, coding sequence variant
rs753851892	G>A	Pathogenic	Splice donor variant
rs756541266	G>A	Pathogenic	Coding sequence variant, stop gained
rs763922486	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs777367269	G>A,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs1554203715	CAGCTTCCTAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554278189	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554278331	G>-	Pathogenic	Splice donor variant, coding sequence variant
rs1562523328	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1585841844	A>T	Pathogenic	Splice acceptor variant

miRNA Show/Hide all (603)

miRTarBase ID	miRNA	Experiments	Reference
MIRT688380	hsa-miR-3974	HITS-CLIP	23313552
MIRT688379	hsa-miR-433-5p	HITS-CLIP	23313552
MIRT688378	hsa-miR-6502-3p	HITS-CLIP	23313552
MIRT688377	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT688376	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT688375	hsa-miR-4459	HITS-CLIP	23313552
MIRT688374	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT688373	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT688372	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT688371	hsa-miR-8073	HITS-CLIP	23313552
MIRT688370	hsa-miR-136-5p	HITS-CLIP	23313552
MIRT688369	hsa-miR-4794	HITS-CLIP	23313552
MIRT688368	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT688367	hsa-miR-4738-3p	HITS-CLIP	23313552
MIRT688366	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT688365	hsa-miR-4683	HITS-CLIP	23313552
MIRT497515	hsa-miR-3938	PAR-CLIP	22291592
MIRT497514	hsa-miR-6840-5p	PAR-CLIP	22291592
MIRT497513	hsa-miR-6716-3p	PAR-CLIP	22291592
MIRT497512	hsa-miR-3679-3p	PAR-CLIP	22291592
MIRT688380	hsa-miR-3974	HITS-CLIP	23313552
MIRT688379	hsa-miR-433-5p	HITS-CLIP	23313552
MIRT688378	hsa-miR-6502-3p	HITS-CLIP	23313552
MIRT688377	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT688376	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT688375	hsa-miR-4459	HITS-CLIP	23313552
MIRT688374	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT688373	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT688372	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT688371	hsa-miR-8073	HITS-CLIP	23313552
MIRT688370	hsa-miR-136-5p	HITS-CLIP	23313552
MIRT688369	hsa-miR-4794	HITS-CLIP	23313552
MIRT688368	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT688367	hsa-miR-4738-3p	HITS-CLIP	23313552
MIRT688366	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT688365	hsa-miR-4683	HITS-CLIP	23313552
MIRT497515	hsa-miR-3938	PAR-CLIP	22291592
MIRT497514	hsa-miR-6840-5p	PAR-CLIP	22291592
MIRT497513	hsa-miR-6716-3p	PAR-CLIP	22291592
MIRT497512	hsa-miR-3679-3p	PAR-CLIP	22291592
MIRT963913	hsa-miR-105	CLIP-seq
MIRT963914	hsa-miR-1224-3p	CLIP-seq
MIRT963915	hsa-miR-125a-5p	CLIP-seq
MIRT963916	hsa-miR-125b	CLIP-seq
MIRT963917	hsa-miR-1260	CLIP-seq
MIRT963918	hsa-miR-1260b	CLIP-seq
MIRT963919	hsa-miR-1262	CLIP-seq
MIRT963920	hsa-miR-1264	CLIP-seq
MIRT963921	hsa-miR-1273f	CLIP-seq
MIRT963922	hsa-miR-1280	CLIP-seq
MIRT963923	hsa-miR-1287	CLIP-seq
MIRT963924	hsa-miR-1294	CLIP-seq
MIRT963925	hsa-miR-1298	CLIP-seq
MIRT963926	hsa-miR-1301	CLIP-seq
MIRT963927	hsa-miR-143	CLIP-seq
MIRT963928	hsa-miR-181a	CLIP-seq
MIRT963929	hsa-miR-181b	CLIP-seq
MIRT963930	hsa-miR-181c	CLIP-seq
MIRT963931	hsa-miR-181d	CLIP-seq
MIRT963932	hsa-miR-1827	CLIP-seq
MIRT963933	hsa-miR-188-3p	CLIP-seq
MIRT963934	hsa-miR-1908	CLIP-seq
MIRT963935	hsa-miR-1909	CLIP-seq
MIRT963936	hsa-miR-219-5p	CLIP-seq
MIRT963937	hsa-miR-2682	CLIP-seq
MIRT963938	hsa-miR-2964a-5p	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT963940	hsa-miR-3135b	CLIP-seq
MIRT963941	hsa-miR-3148	CLIP-seq
MIRT963942	hsa-miR-3156-3p	CLIP-seq
MIRT963943	hsa-miR-3160-3p	CLIP-seq
MIRT963944	hsa-miR-3612	CLIP-seq
MIRT963945	hsa-miR-365	CLIP-seq
MIRT963946	hsa-miR-3652	CLIP-seq
MIRT963947	hsa-miR-3664-3p	CLIP-seq
MIRT963948	hsa-miR-3668	CLIP-seq
MIRT963949	hsa-miR-3671	CLIP-seq
MIRT963950	hsa-miR-3688-3p	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT963953	hsa-miR-380	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963955	hsa-miR-3929	CLIP-seq
MIRT963956	hsa-miR-3973	CLIP-seq
MIRT963957	hsa-miR-4262	CLIP-seq
MIRT963958	hsa-miR-4276	CLIP-seq
MIRT963959	hsa-miR-4316	CLIP-seq
MIRT963960	hsa-miR-4319	CLIP-seq
MIRT963961	hsa-miR-4324	CLIP-seq
MIRT963962	hsa-miR-4328	CLIP-seq
MIRT963963	hsa-miR-4419b	CLIP-seq
MIRT963964	hsa-miR-4430	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT963966	hsa-miR-4443	CLIP-seq
MIRT963967	hsa-miR-4446-5p	CLIP-seq
MIRT963968	hsa-miR-4450	CLIP-seq
MIRT963969	hsa-miR-4457	CLIP-seq
MIRT963970	hsa-miR-4478	CLIP-seq
MIRT963971	hsa-miR-4495	CLIP-seq
MIRT963972	hsa-miR-4499	CLIP-seq
MIRT963973	hsa-miR-449c	CLIP-seq
MIRT963974	hsa-miR-4513	CLIP-seq
MIRT963975	hsa-miR-4525	CLIP-seq
MIRT963976	hsa-miR-4645-3p	CLIP-seq
MIRT963977	hsa-miR-4646-5p	CLIP-seq
MIRT963978	hsa-miR-4649-3p	CLIP-seq
MIRT963979	hsa-miR-4660	CLIP-seq
MIRT963980	hsa-miR-4668-5p	CLIP-seq
MIRT963981	hsa-miR-4670-3p	CLIP-seq
MIRT963982	hsa-miR-4695-5p	CLIP-seq
MIRT963983	hsa-miR-4701-3p	CLIP-seq
MIRT963984	hsa-miR-4708-5p	CLIP-seq
MIRT963985	hsa-miR-4722-5p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT963987	hsa-miR-4732-3p	CLIP-seq
MIRT963988	hsa-miR-4732-5p	CLIP-seq
MIRT963989	hsa-miR-4755-5p	CLIP-seq
MIRT963990	hsa-miR-4770	CLIP-seq
MIRT963991	hsa-miR-4777-3p	CLIP-seq
MIRT963992	hsa-miR-4782-3p	CLIP-seq
MIRT963993	hsa-miR-4787-3p	CLIP-seq
MIRT963994	hsa-miR-485-5p	CLIP-seq
MIRT963995	hsa-miR-490-3p	CLIP-seq
MIRT963996	hsa-miR-5047	CLIP-seq
MIRT963997	hsa-miR-510	CLIP-seq
MIRT963998	hsa-miR-512-5p	CLIP-seq
MIRT963999	hsa-miR-513b	CLIP-seq
MIRT964000	hsa-miR-520g	CLIP-seq
MIRT964001	hsa-miR-520h	CLIP-seq
MIRT964002	hsa-miR-542-3p	CLIP-seq
MIRT964003	hsa-miR-545	CLIP-seq
MIRT964004	hsa-miR-548c-3p	CLIP-seq
MIRT964005	hsa-miR-607	CLIP-seq
MIRT964006	hsa-miR-619	CLIP-seq
MIRT964007	hsa-miR-624	CLIP-seq
MIRT964008	hsa-miR-650	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT964010	hsa-miR-663	CLIP-seq
MIRT964011	hsa-miR-670	CLIP-seq
MIRT964012	hsa-miR-766	CLIP-seq
MIRT964013	hsa-miR-875-3p	CLIP-seq
MIRT964014	hsa-miR-936	CLIP-seq
MIRT964015	hsa-miR-940	CLIP-seq
MIRT963972	hsa-miR-4499	CLIP-seq
MIRT963919	hsa-miR-1262	CLIP-seq
MIRT1985706	hsa-miR-128	CLIP-seq
MIRT1985707	hsa-miR-129-5p	CLIP-seq
MIRT963928	hsa-miR-181a	CLIP-seq
MIRT963929	hsa-miR-181b	CLIP-seq
MIRT963930	hsa-miR-181c	CLIP-seq
MIRT963931	hsa-miR-181d	CLIP-seq
MIRT1985708	hsa-miR-2116	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT1985709	hsa-miR-3149	CLIP-seq
MIRT1985710	hsa-miR-3194-3p	CLIP-seq
MIRT1985711	hsa-miR-3614-5p	CLIP-seq
MIRT1985712	hsa-miR-3658	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963957	hsa-miR-4262	CLIP-seq
MIRT1985713	hsa-miR-4273	CLIP-seq
MIRT1985714	hsa-miR-4282	CLIP-seq
MIRT1985715	hsa-miR-4291	CLIP-seq
MIRT1985716	hsa-miR-4293	CLIP-seq
MIRT1985717	hsa-miR-4307	CLIP-seq
MIRT1985718	hsa-miR-4310	CLIP-seq
MIRT1985719	hsa-miR-4418	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT963969	hsa-miR-4457	CLIP-seq
MIRT1985720	hsa-miR-4677-5p	CLIP-seq
MIRT963983	hsa-miR-4701-3p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT1985721	hsa-miR-4775	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT1985723	hsa-miR-509-3-5p	CLIP-seq
MIRT1985724	hsa-miR-509-5p	CLIP-seq
MIRT963999	hsa-miR-513b	CLIP-seq
MIRT964002	hsa-miR-542-3p	CLIP-seq
MIRT964003	hsa-miR-545	CLIP-seq
MIRT1985725	hsa-miR-567	CLIP-seq
MIRT1985726	hsa-miR-590-3p	CLIP-seq
MIRT964005	hsa-miR-607	CLIP-seq
MIRT964007	hsa-miR-624	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT1985727	hsa-miR-668	CLIP-seq
MIRT964012	hsa-miR-766	CLIP-seq
MIRT1985728	hsa-miR-935	CLIP-seq
MIRT963913	hsa-miR-105	CLIP-seq
MIRT2220123	hsa-miR-1229	CLIP-seq
MIRT2220124	hsa-miR-1237	CLIP-seq
MIRT2220125	hsa-miR-1248	CLIP-seq
MIRT963919	hsa-miR-1262	CLIP-seq
MIRT963920	hsa-miR-1264	CLIP-seq
MIRT2220126	hsa-miR-1269	CLIP-seq
MIRT2220127	hsa-miR-1269b	CLIP-seq
MIRT2220128	hsa-miR-1272	CLIP-seq
MIRT2220129	hsa-miR-1276	CLIP-seq
MIRT1985706	hsa-miR-128	CLIP-seq
MIRT2220130	hsa-miR-1283	CLIP-seq
MIRT2220131	hsa-miR-1288	CLIP-seq
MIRT2220132	hsa-miR-1293	CLIP-seq
MIRT963926	hsa-miR-1301	CLIP-seq
MIRT2220133	hsa-miR-1322	CLIP-seq
MIRT2220134	hsa-miR-142-5p	CLIP-seq
MIRT2220135	hsa-miR-150	CLIP-seq
MIRT963928	hsa-miR-181a	CLIP-seq
MIRT963929	hsa-miR-181b	CLIP-seq
MIRT963930	hsa-miR-181c	CLIP-seq
MIRT963931	hsa-miR-181d	CLIP-seq
MIRT963932	hsa-miR-1827	CLIP-seq
MIRT963934	hsa-miR-1908	CLIP-seq
MIRT2220136	hsa-miR-1914	CLIP-seq
MIRT2220137	hsa-miR-194	CLIP-seq
MIRT2220138	hsa-miR-2053	CLIP-seq
MIRT963936	hsa-miR-219-5p	CLIP-seq
MIRT963937	hsa-miR-2682	CLIP-seq
MIRT2220139	hsa-miR-27a	CLIP-seq
MIRT2220140	hsa-miR-27b	CLIP-seq
MIRT2220141	hsa-miR-2964a-3p	CLIP-seq
MIRT2220142	hsa-miR-300	CLIP-seq
MIRT2220143	hsa-miR-302f	CLIP-seq
MIRT2220144	hsa-miR-30a	CLIP-seq
MIRT2220145	hsa-miR-30b	CLIP-seq
MIRT2220146	hsa-miR-30c	CLIP-seq
MIRT2220147	hsa-miR-30d	CLIP-seq
MIRT2220148	hsa-miR-30e	CLIP-seq
MIRT2220149	hsa-miR-3120-3p	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT2220150	hsa-miR-3163	CLIP-seq
MIRT2220151	hsa-miR-3189-3p	CLIP-seq
MIRT2220152	hsa-miR-3192	CLIP-seq
MIRT2220153	hsa-miR-323-5p	CLIP-seq
MIRT2220154	hsa-miR-337-3p	CLIP-seq
MIRT2220155	hsa-miR-338-3p	CLIP-seq
MIRT2220156	hsa-miR-338-5p	CLIP-seq
MIRT2220157	hsa-miR-339-5p	CLIP-seq
MIRT2220158	hsa-miR-340	CLIP-seq
MIRT2220159	hsa-miR-34a	CLIP-seq
MIRT2220160	hsa-miR-34c-5p	CLIP-seq
MIRT2220161	hsa-miR-3607-3p	CLIP-seq
MIRT963944	hsa-miR-3612	CLIP-seq
MIRT2220162	hsa-miR-3622b-5p	CLIP-seq
MIRT963945	hsa-miR-365	CLIP-seq
MIRT1985712	hsa-miR-3658	CLIP-seq
MIRT963947	hsa-miR-3664-3p	CLIP-seq
MIRT963948	hsa-miR-3668	CLIP-seq
MIRT963949	hsa-miR-3671	CLIP-seq
MIRT2220163	hsa-miR-3678-5p	CLIP-seq
MIRT2220164	hsa-miR-3682-5p	CLIP-seq
MIRT2220165	hsa-miR-3688-5p	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT2220166	hsa-miR-3714	CLIP-seq
MIRT2220167	hsa-miR-381	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963955	hsa-miR-3929	CLIP-seq
MIRT2220168	hsa-miR-3934	CLIP-seq
MIRT2220169	hsa-miR-3941	CLIP-seq
MIRT2220170	hsa-miR-411	CLIP-seq
MIRT2220171	hsa-miR-421	CLIP-seq
MIRT963957	hsa-miR-4262	CLIP-seq
MIRT2220172	hsa-miR-4272	CLIP-seq
MIRT2220173	hsa-miR-4279	CLIP-seq
MIRT2220174	hsa-miR-4281	CLIP-seq
MIRT1985714	hsa-miR-4282	CLIP-seq
MIRT2220175	hsa-miR-4311	CLIP-seq
MIRT2220176	hsa-miR-4327	CLIP-seq
MIRT963962	hsa-miR-4328	CLIP-seq
MIRT2220177	hsa-miR-433	CLIP-seq
MIRT1985719	hsa-miR-4418	CLIP-seq
MIRT963963	hsa-miR-4419b	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT963969	hsa-miR-4457	CLIP-seq
MIRT2220178	hsa-miR-4468	CLIP-seq
MIRT2220179	hsa-miR-4474-3p	CLIP-seq
MIRT963970	hsa-miR-4478	CLIP-seq
MIRT2220180	hsa-miR-448	CLIP-seq
MIRT2220181	hsa-miR-4483	CLIP-seq
MIRT2220182	hsa-miR-4496	CLIP-seq
MIRT2220183	hsa-miR-449a	CLIP-seq
MIRT2220184	hsa-miR-449b	CLIP-seq
MIRT963973	hsa-miR-449c	CLIP-seq
MIRT2220185	hsa-miR-4515	CLIP-seq
MIRT963975	hsa-miR-4525	CLIP-seq
MIRT2220186	hsa-miR-4527	CLIP-seq
MIRT2220187	hsa-miR-4528	CLIP-seq
MIRT2220188	hsa-miR-4529-3p	CLIP-seq
MIRT2220189	hsa-miR-4530	CLIP-seq
MIRT2220190	hsa-miR-4639-3p	CLIP-seq
MIRT2220191	hsa-miR-4641	CLIP-seq
MIRT2220192	hsa-miR-4643	CLIP-seq
MIRT963978	hsa-miR-4649-3p	CLIP-seq
MIRT2220193	hsa-miR-4651	CLIP-seq
MIRT2220194	hsa-miR-4659a-3p	CLIP-seq
MIRT2220195	hsa-miR-4659b-3p	CLIP-seq
MIRT2220196	hsa-miR-466	CLIP-seq
MIRT963979	hsa-miR-4660	CLIP-seq
MIRT2220197	hsa-miR-4662a-3p	CLIP-seq
MIRT2220198	hsa-miR-4663	CLIP-seq
MIRT2220199	hsa-miR-4666-3p	CLIP-seq
MIRT2220200	hsa-miR-4667-3p	CLIP-seq
MIRT2220201	hsa-miR-4672	CLIP-seq
MIRT963982	hsa-miR-4695-5p	CLIP-seq
MIRT2220202	hsa-miR-4696	CLIP-seq
MIRT963983	hsa-miR-4701-3p	CLIP-seq
MIRT2220203	hsa-miR-4704-3p	CLIP-seq
MIRT2220204	hsa-miR-4709-5p	CLIP-seq
MIRT2220205	hsa-miR-4713-5p	CLIP-seq
MIRT963985	hsa-miR-4722-5p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT2220206	hsa-miR-4740-5p	CLIP-seq
MIRT2220207	hsa-miR-4768-5p	CLIP-seq
MIRT2220208	hsa-miR-4776-3p	CLIP-seq
MIRT2220209	hsa-miR-4779	CLIP-seq
MIRT963992	hsa-miR-4782-3p	CLIP-seq
MIRT963993	hsa-miR-4787-3p	CLIP-seq
MIRT2220210	hsa-miR-4789-3p	CLIP-seq
MIRT963994	hsa-miR-485-5p	CLIP-seq
MIRT963995	hsa-miR-490-3p	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT963996	hsa-miR-5047	CLIP-seq
MIRT1985723	hsa-miR-509-3-5p	CLIP-seq
MIRT1985724	hsa-miR-509-5p	CLIP-seq
MIRT963997	hsa-miR-510	CLIP-seq
MIRT963998	hsa-miR-512-5p	CLIP-seq
MIRT2220211	hsa-miR-513a-5p	CLIP-seq
MIRT963999	hsa-miR-513b	CLIP-seq
MIRT2220212	hsa-miR-520d-5p	CLIP-seq
MIRT2220213	hsa-miR-524-5p	CLIP-seq
MIRT2220214	hsa-miR-532-3p	CLIP-seq
MIRT964002	hsa-miR-542-3p	CLIP-seq
MIRT964003	hsa-miR-545	CLIP-seq
MIRT2220215	hsa-miR-548an	CLIP-seq
MIRT964004	hsa-miR-548c-3p	CLIP-seq
MIRT2220216	hsa-miR-555	CLIP-seq
MIRT2220217	hsa-miR-569	CLIP-seq
MIRT2220218	hsa-miR-583	CLIP-seq
MIRT2220219	hsa-miR-600	CLIP-seq
MIRT964005	hsa-miR-607	CLIP-seq
MIRT2220220	hsa-miR-608	CLIP-seq
MIRT964007	hsa-miR-624	CLIP-seq
MIRT2220221	hsa-miR-644	CLIP-seq
MIRT964008	hsa-miR-650	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT964010	hsa-miR-663	CLIP-seq
MIRT964012	hsa-miR-766	CLIP-seq
MIRT2220222	hsa-miR-873	CLIP-seq
MIRT964013	hsa-miR-875-3p	CLIP-seq
MIRT964015	hsa-miR-940	CLIP-seq
MIRT2220223	hsa-miR-942	CLIP-seq
MIRT2387423	hsa-miR-1178	CLIP-seq
MIRT2220123	hsa-miR-1229	CLIP-seq
MIRT2220125	hsa-miR-1248	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT2387424	hsa-miR-3152-5p	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT1985716	hsa-miR-4293	CLIP-seq
MIRT2387425	hsa-miR-4312	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT2220190	hsa-miR-4639-3p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT2387426	hsa-miR-4766-5p	CLIP-seq
MIRT2387427	hsa-miR-4773	CLIP-seq
MIRT2387428	hsa-miR-4774-3p	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT963934	hsa-miR-1908	CLIP-seq
MIRT2448855	hsa-miR-3120-5p	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT2448856	hsa-miR-3169	CLIP-seq
MIRT2448857	hsa-miR-3613-3p	CLIP-seq
MIRT2448858	hsa-miR-3664-5p	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT2448859	hsa-miR-371-5p	CLIP-seq
MIRT2448860	hsa-miR-371b-5p	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT2448861	hsa-miR-4522	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT2220206	hsa-miR-4740-5p	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT964010	hsa-miR-663	CLIP-seq
MIRT2465221	hsa-miR-127-5p	CLIP-seq
MIRT2465222	hsa-miR-1296	CLIP-seq
MIRT963937	hsa-miR-2682	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT2220166	hsa-miR-3714	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963962	hsa-miR-4328	CLIP-seq
MIRT963973	hsa-miR-449c	CLIP-seq
MIRT2465223	hsa-miR-4512	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT2465224	hsa-miR-4786-3p	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT2220215	hsa-miR-548an	CLIP-seq
MIRT963915	hsa-miR-125a-5p	CLIP-seq
MIRT963916	hsa-miR-125b	CLIP-seq
MIRT1985706	hsa-miR-128	CLIP-seq
MIRT2524020	hsa-miR-136	CLIP-seq
MIRT963928	hsa-miR-181a	CLIP-seq
MIRT963929	hsa-miR-181b	CLIP-seq
MIRT963930	hsa-miR-181c	CLIP-seq
MIRT963931	hsa-miR-181d	CLIP-seq
MIRT963932	hsa-miR-1827	CLIP-seq
MIRT963934	hsa-miR-1908	CLIP-seq
MIRT2524021	hsa-miR-1911	CLIP-seq
MIRT2220136	hsa-miR-1914	CLIP-seq
MIRT2524022	hsa-miR-19a	CLIP-seq
MIRT2524023	hsa-miR-19b	CLIP-seq
MIRT2524024	hsa-miR-2114	CLIP-seq
MIRT963937	hsa-miR-2682	CLIP-seq
MIRT2448855	hsa-miR-3120-5p	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT963940	hsa-miR-3135b	CLIP-seq
MIRT2448856	hsa-miR-3169	CLIP-seq
MIRT2220152	hsa-miR-3192	CLIP-seq
MIRT2220159	hsa-miR-34a	CLIP-seq
MIRT2220160	hsa-miR-34c-5p	CLIP-seq
MIRT963944	hsa-miR-3612	CLIP-seq
MIRT2448857	hsa-miR-3613-3p	CLIP-seq
MIRT2220162	hsa-miR-3622b-5p	CLIP-seq
MIRT963946	hsa-miR-3652	CLIP-seq
MIRT2524025	hsa-miR-3653	CLIP-seq
MIRT1985712	hsa-miR-3658	CLIP-seq
MIRT963947	hsa-miR-3664-3p	CLIP-seq
MIRT2448858	hsa-miR-3664-5p	CLIP-seq
MIRT2524026	hsa-miR-3665	CLIP-seq
MIRT963949	hsa-miR-3671	CLIP-seq
MIRT2220165	hsa-miR-3688-5p	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT2448859	hsa-miR-371-5p	CLIP-seq
MIRT2448860	hsa-miR-371b-5p	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963955	hsa-miR-3929	CLIP-seq
MIRT2220168	hsa-miR-3934	CLIP-seq
MIRT2220169	hsa-miR-3941	CLIP-seq
MIRT2220171	hsa-miR-421	CLIP-seq
MIRT963957	hsa-miR-4262	CLIP-seq
MIRT2220172	hsa-miR-4272	CLIP-seq
MIRT1985716	hsa-miR-4293	CLIP-seq
MIRT963960	hsa-miR-4319	CLIP-seq
MIRT2220176	hsa-miR-4327	CLIP-seq
MIRT2220177	hsa-miR-433	CLIP-seq
MIRT1985719	hsa-miR-4418	CLIP-seq
MIRT963963	hsa-miR-4419b	CLIP-seq
MIRT963964	hsa-miR-4430	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT963966	hsa-miR-4443	CLIP-seq
MIRT963967	hsa-miR-4446-5p	CLIP-seq
MIRT963968	hsa-miR-4450	CLIP-seq
MIRT963969	hsa-miR-4457	CLIP-seq
MIRT2220179	hsa-miR-4474-3p	CLIP-seq
MIRT963970	hsa-miR-4478	CLIP-seq
MIRT2220183	hsa-miR-449a	CLIP-seq
MIRT2220184	hsa-miR-449b	CLIP-seq
MIRT963973	hsa-miR-449c	CLIP-seq
MIRT2448861	hsa-miR-4522	CLIP-seq
MIRT963975	hsa-miR-4525	CLIP-seq
MIRT2524027	hsa-miR-455-5p	CLIP-seq
MIRT2220190	hsa-miR-4639-3p	CLIP-seq
MIRT2524028	hsa-miR-4640-5p	CLIP-seq
MIRT2220192	hsa-miR-4643	CLIP-seq
MIRT963976	hsa-miR-4645-3p	CLIP-seq
MIRT963978	hsa-miR-4649-3p	CLIP-seq
MIRT2220196	hsa-miR-466	CLIP-seq
MIRT963979	hsa-miR-4660	CLIP-seq
MIRT2524029	hsa-miR-4662a-5p	CLIP-seq
MIRT2220198	hsa-miR-4663	CLIP-seq
MIRT2220200	hsa-miR-4667-3p	CLIP-seq
MIRT2220201	hsa-miR-4672	CLIP-seq
MIRT2524030	hsa-miR-4676-5p	CLIP-seq
MIRT2524031	hsa-miR-4684-5p	CLIP-seq
MIRT963982	hsa-miR-4695-5p	CLIP-seq
MIRT2220202	hsa-miR-4696	CLIP-seq
MIRT2220204	hsa-miR-4709-5p	CLIP-seq
MIRT963985	hsa-miR-4722-5p	CLIP-seq
MIRT2524032	hsa-miR-4726-5p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT963987	hsa-miR-4732-3p	CLIP-seq
MIRT2524033	hsa-miR-4736	CLIP-seq
MIRT2220206	hsa-miR-4740-5p	CLIP-seq
MIRT2524034	hsa-miR-4755-3p	CLIP-seq
MIRT963989	hsa-miR-4755-5p	CLIP-seq
MIRT963991	hsa-miR-4777-3p	CLIP-seq
MIRT963993	hsa-miR-4787-3p	CLIP-seq
MIRT2220210	hsa-miR-4789-3p	CLIP-seq
MIRT963994	hsa-miR-485-5p	CLIP-seq
MIRT963995	hsa-miR-490-3p	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT1985723	hsa-miR-509-3-5p	CLIP-seq
MIRT1985724	hsa-miR-509-5p	CLIP-seq
MIRT963997	hsa-miR-510	CLIP-seq
MIRT963998	hsa-miR-512-5p	CLIP-seq
MIRT963999	hsa-miR-513b	CLIP-seq
MIRT964004	hsa-miR-548c-3p	CLIP-seq
MIRT2524035	hsa-miR-550a	CLIP-seq
MIRT2524036	hsa-miR-575	CLIP-seq
MIRT2524037	hsa-miR-596	CLIP-seq
MIRT964005	hsa-miR-607	CLIP-seq
MIRT964007	hsa-miR-624	CLIP-seq
MIRT2220221	hsa-miR-644	CLIP-seq
MIRT2524038	hsa-miR-646	CLIP-seq
MIRT964008	hsa-miR-650	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT964010	hsa-miR-663	CLIP-seq
MIRT2524039	hsa-miR-665	CLIP-seq
MIRT964011	hsa-miR-670	CLIP-seq
MIRT2524040	hsa-miR-764	CLIP-seq
MIRT2220222	hsa-miR-873	CLIP-seq
MIRT1985728	hsa-miR-935	CLIP-seq
MIRT964014	hsa-miR-936	CLIP-seq
MIRT964015	hsa-miR-940	CLIP-seq
MIRT2680068	hsa-miR-1231	CLIP-seq
MIRT2465221	hsa-miR-127-5p	CLIP-seq
MIRT2465222	hsa-miR-1296	CLIP-seq
MIRT2524020	hsa-miR-136	CLIP-seq
MIRT963932	hsa-miR-1827	CLIP-seq
MIRT963934	hsa-miR-1908	CLIP-seq
MIRT2524024	hsa-miR-2114	CLIP-seq
MIRT963936	hsa-miR-219-5p	CLIP-seq
MIRT963937	hsa-miR-2682	CLIP-seq
MIRT2220141	hsa-miR-2964a-3p	CLIP-seq
MIRT2448855	hsa-miR-3120-5p	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT963940	hsa-miR-3135b	CLIP-seq
MIRT2448856	hsa-miR-3169	CLIP-seq
MIRT2220159	hsa-miR-34a	CLIP-seq
MIRT2220160	hsa-miR-34c-5p	CLIP-seq
MIRT963944	hsa-miR-3612	CLIP-seq
MIRT2448857	hsa-miR-3613-3p	CLIP-seq
MIRT2220162	hsa-miR-3622b-5p	CLIP-seq
MIRT963946	hsa-miR-3652	CLIP-seq
MIRT2524025	hsa-miR-3653	CLIP-seq
MIRT1985712	hsa-miR-3658	CLIP-seq
MIRT963947	hsa-miR-3664-3p	CLIP-seq
MIRT2448858	hsa-miR-3664-5p	CLIP-seq
MIRT2524026	hsa-miR-3665	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT2448859	hsa-miR-371-5p	CLIP-seq
MIRT2448860	hsa-miR-371b-5p	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963955	hsa-miR-3929	CLIP-seq
MIRT2680069	hsa-miR-4288	CLIP-seq
MIRT1985716	hsa-miR-4293	CLIP-seq
MIRT1985719	hsa-miR-4418	CLIP-seq
MIRT963963	hsa-miR-4419b	CLIP-seq
MIRT963964	hsa-miR-4430	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT963966	hsa-miR-4443	CLIP-seq
MIRT963968	hsa-miR-4450	CLIP-seq
MIRT963969	hsa-miR-4457	CLIP-seq
MIRT963970	hsa-miR-4478	CLIP-seq
MIRT2220183	hsa-miR-449a	CLIP-seq
MIRT2220184	hsa-miR-449b	CLIP-seq
MIRT963973	hsa-miR-449c	CLIP-seq
MIRT2465223	hsa-miR-4512	CLIP-seq
MIRT2448861	hsa-miR-4522	CLIP-seq
MIRT963975	hsa-miR-4525	CLIP-seq
MIRT2524028	hsa-miR-4640-5p	CLIP-seq
MIRT963976	hsa-miR-4645-3p	CLIP-seq
MIRT963978	hsa-miR-4649-3p	CLIP-seq
MIRT963979	hsa-miR-4660	CLIP-seq
MIRT2524029	hsa-miR-4662a-5p	CLIP-seq
MIRT2524030	hsa-miR-4676-5p	CLIP-seq
MIRT2524031	hsa-miR-4684-5p	CLIP-seq
MIRT963982	hsa-miR-4695-5p	CLIP-seq
MIRT963985	hsa-miR-4722-5p	CLIP-seq
MIRT2524032	hsa-miR-4726-5p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT2524033	hsa-miR-4736	CLIP-seq
MIRT2220206	hsa-miR-4740-5p	CLIP-seq
MIRT963991	hsa-miR-4777-3p	CLIP-seq
MIRT963992	hsa-miR-4782-3p	CLIP-seq
MIRT2465224	hsa-miR-4786-3p	CLIP-seq
MIRT963993	hsa-miR-4787-3p	CLIP-seq
MIRT963994	hsa-miR-485-5p	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT1985723	hsa-miR-509-3-5p	CLIP-seq
MIRT1985724	hsa-miR-509-5p	CLIP-seq
MIRT963997	hsa-miR-510	CLIP-seq
MIRT963998	hsa-miR-512-5p	CLIP-seq
MIRT963999	hsa-miR-513b	CLIP-seq
MIRT964004	hsa-miR-548c-3p	CLIP-seq
MIRT2524035	hsa-miR-550a	CLIP-seq
MIRT2524036	hsa-miR-575	CLIP-seq
MIRT2524037	hsa-miR-596	CLIP-seq
MIRT964007	hsa-miR-624	CLIP-seq
MIRT2680070	hsa-miR-632	CLIP-seq
MIRT2524038	hsa-miR-646	CLIP-seq
MIRT964008	hsa-miR-650	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT964010	hsa-miR-663	CLIP-seq
MIRT2524040	hsa-miR-764	CLIP-seq
MIRT1985728	hsa-miR-935	CLIP-seq
MIRT964014	hsa-miR-936	CLIP-seq
MIRT964015	hsa-miR-940	CLIP-seq

Gene ontology (GO) Show/Hide all (76)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IEA
GO:0004527	Function	Exonuclease activity	IDA	22285541
GO:0004528	Function	Phosphodiesterase I activity	IBA
GO:0004528	Function	Phosphodiesterase I activity	IDA	27467858
GO:0004528	Function	Phosphodiesterase I activity	IEA
GO:0004528	Function	Phosphodiesterase I activity	ISS
GO:0004551	Function	Dinucleotide phosphatase activity	IBA
GO:0004551	Function	Dinucleotide phosphatase activity	IDA	12746903
GO:0005044	Function	Scavenger receptor activity	IEA
GO:0005158	Function	Insulin receptor binding	IDA	7830796
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	11289049, 26065921
GO:0005524	Function	ATP binding	IDA	7830796
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	11159191
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005886	Component	Plasma membrane	IDA	25644539
GO:0005886	Component	Plasma membrane	IDA	10513816, 27467858
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	IDA	12746903
GO:0006796	Process	Phosphate-containing compound metabolic process	IDA	10513816, 11159191
GO:0006955	Process	Immune response	IEA
GO:0008270	Function	Zinc ion binding	ISS
GO:0009143	Process	Nucleoside triphosphate catabolic process	IBA
GO:0009143	Process	Nucleoside triphosphate catabolic process	IDA	10513816
GO:0009143	Process	Nucleoside triphosphate catabolic process	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	10513816
GO:0010467	Process	Gene expression	IDA	28592560
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016020	Component	Membrane	TAS	1315502
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	NAS	9553761
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IDA	28592560
GO:0030247	Function	Polysaccharide binding	IEA
GO:0030282	Process	Bone mineralization	IDA	28652107
GO:0030308	Process	Negative regulation of cell growth	IDA	17849011
GO:0030318	Process	Melanocyte differentiation	IMP	28964717
GO:0030500	Process	Regulation of bone mineralization	IBA
GO:0030500	Process	Regulation of bone mineralization	IC	10513816
GO:0030502	Process	Negative regulation of bone mineralization	ISS
GO:0030505	Process	Inorganic diphosphate transport	IBA
GO:0030505	Process	Inorganic diphosphate transport	IDA	10513816
GO:0030643	Process	Intracellular phosphate ion homeostasis	IDA	11159191
GO:0031214	Process	Biomineral tissue development	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IDA	7830796, 17849011
GO:0033198	Process	Response to ATP	IDA	25644539
GO:0036219	Function	GTP diphosphatase activity	IEA
GO:0036221	Function	UTP diphosphatase activity	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	7830796, 28964717
GO:0045599	Process	Negative regulation of fat cell differentiation	IBA
GO:0045599	Process	Negative regulation of fat cell differentiation	IDA	17849011
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IDA	11289049
GO:0046034	Process	ATP metabolic process	IBA
GO:0046034	Process	ATP metabolic process	IDA	25644539
GO:0046034	Process	ATP metabolic process	ISS
GO:0046325	Process	Negative regulation of D-glucose import	IDA	17849011
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	7830796, 17849011
GO:0046872	Function	Metal ion binding	IEA
GO:0047429	Function	Nucleoside triphosphate diphosphatase activity	IDA	7830796, 10513816, 11159191, 25344812
GO:0047429	Function	Nucleoside triphosphate diphosphatase activity	IEA
GO:0047693	Function	ATP diphosphatase activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0050427	Process	3'-phosphoadenosine 5'-phosphosulfate metabolic process	IDA	7830796
GO:0050656	Function	3'-phosphoadenosine 5'-phosphosulfate binding	IC	7830796
GO:0055062	Process	Phosphate ion homeostasis	IDA	28652107
GO:0090304	Process	Nucleic acid metabolic process	IDA	22285541
GO:0106177	Function	Cyclic-GMP-AMP hydrolase activity	IDA	25344812
GO:0106177	Function	Cyclic-GMP-AMP hydrolase activity	IEA
GO:1990787	Process	Negative regulation of hh target transcription factor activity	ISS

Other IDs

• MIM: 173335
• HGNC: 3356
• e!Ensembl: ENSG00000197594

Protein

• UniProt ID: P22413
• Protein name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (E-NPP 1) (Alkaline phosphodiesterase I) (EC 3.1.4.1) (Membrane component chromosome 6 surface marker 1) (Nucleotide diphosphatase) (Nucleotide pyrophosphatase) (NPPase) (EC 3.6.1.9) (Phosph
• Protein function: Nucleotide pyrophosphatase that generates diphosphate (PPi) and functions in bone mineralization and soft tissue calcification by regulating pyrophosphate levels (By similarity). PPi inhibits bone mineralization and soft tissue calcification by
• PDB: 2YS0 , 6WET , 6WEU , 6WEV , 6WEW , 6WFJ , 8GHR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01033	Somatomedin_B	106 → 143	Somatomedin B domain	Family
  PF01033	Somatomedin_B	147 → 187	Somatomedin B domain	Family
  PF01223	Endonuclease_NS	663 → 905	DNA/RNA non-specific endonuclease	Domain
  PF01663	Phosphodiest	212 → 538	Type I phosphodiesterase / nucleotide pyrophosphatase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in plasma cells and also in a number of non-lymphoid tissues, including the distal convoluted tubule of the kidney, chondrocytes and epididymis (PubMed:9344668). Expressed in melanocytes but not in keratinocytes (PubMed:28964
• Sequence:

  MERDGCAGGGSRGGEGGRAPREGPAGNGRDRGRSHAAEAPGDPQAAASLLAPMDVGEEPL
  EKAARARTAKDPNTYKVLSLVLSVCVLTTILGCIFGLKPSCAKEVKSCKGRCFERTFGNC
  RCDAACVELGNCCLDYQETCIEPEHIWTCNKFRCGEKRLTRSLCACSDDCKDKGDCCINY
  SSVCQGEKSWVEEPCESINEPQCPAGFETPPTLLFSLDGFRAEYLHTWGGLLPVISKLKK
  CGTYTKNMRPVYPTKTFPNHYSIVTGLYPESHGIIDNKMYDPKMNASFSLKSKEKFNPEW
  YKGEPIWVTAKYQGLKSGTFFWPGSDVEINGIFPDIYKMYNGSVPFEERILAVLQWLQLP
  KDERPHFYTLYLEEPDSSGHSYGPVSSEVIKALQRVDGMVGMLMDGLKELNLHRCLNLIL
  ISDHGMEQGSCKKYIYLNKYLGDVKNIKVIYGPAARLRPSDVPDKYYSFNYEGIARNLSC
  REPNQHFKPYLKHFLPKRLHFAKSDRIEPLTFYLDPQWQLALNPSERKYCGSGFHGSDNV
  FSNMQALFVGYGPGFKHGIEADTFENIEVYNLMCDLLNLTPAPNNGTHGSLNHLLKNPVY
  TPKHPKEVHPLVQCPFTRNPRDNLGCSCNPSILPIEDFQTQFNLTVAEEKIIKHETLPYG
  RPRVLQKENTICLLSQHQFMSGYSQDILMPLWTSYTVDRNDSFSTEDFSNCLYQDFRIPL
  SPVHKCSFYKNNTKVSYGFLSPPQLNKNSSGIYSEALLTTNIVPMYQSFQVIWRYFHDTL
  LRKYAEERNGVNVVSGPVFDFDYDGRCDSLENLRQKRRVIRNQEILIPTHFFIVLTSCKD
  TSQTPLHCENLDTLAFILPHRTDNSESCVHGKHDSSWVEELLMLHRARITDVEHITGLSF
  YQQRKEPVSDILKLKTHLPTFSQED

• Sequence length: 925

Pathways

KEGG Pathway	Reactome Pathway
Purine metabolism	Vitamin B2 (riboflavin) metabolism
Pyrimidine metabolism	Vitamin B5 (pantothenate) metabolism
Starch and sucrose metabolism
Riboflavin metabolism
Nicotinate and nicotinamide metabolism
Pantothenate and CoA biosynthesis
Metabolic pathways
Nucleotide metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal Show/Hide Causal Diseases (9)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	Likely pathogenic	rs751147622	RCV005861184	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arterial calcification, generalized, of infancy, 1	Pathogenic; Likely pathogenic	rs1782357136, rs1258544339, rs2114702198, rs751725130, rs1805101, rs1234826768, rs2114702042, rs2114706946, rs2114643507, rs2114727013, rs1470739291, rs2114710332, rs1167413684, rs2114726975, rs2114728448, rs2114737043, rs2483547484, rs777367269, rs2483527612, rs121918023, rs1554203715, rs121918024, rs121918025, rs121918026, rs121908248, rs267606784, rs1401810953, rs1782451970, rs770775549, rs751147622, rs374270497, rs387906673, rs753851892, rs149828062, rs763922486, rs373044722, rs1562523328, rs1585841844, rs1781877793	RCV001536097 RCV005042758 RCV002273880 RCV002273881 RCV002273882 RCV002273884 RCV002273885 RCV002273912 RCV002273914 RCV002273887 RCV002273889 RCV002273893 RCV002273894 RCV002273895 RCV002273896 RCV002273897 RCV003320394 RCV000022723 RCV003482924 RCV000014554 RCV000014556 RCV000014557 RCV000014560 RCV000014561 RCV000014564 RCV000014567 RCV000014568 RCV005038577 RCV003989094 RCV003990491 RCV000022720 RCV000022721 RCV000022722 RCV005004205 RCV000660585 RCV000660584 RCV000785867 RCV000984993 RCV000995539 RCV001270246	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coronary sclerosis, medial, of infancy	Likely pathogenic; Pathogenic	rs121918025, rs756541266	RCV000853319 RCV000853320	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ENPP1-related disorder	Likely pathogenic; Pathogenic	rs754659608, rs1782357136, rs2483462090, rs267606784, rs2483510755, rs374270497	RCV003336411 RCV003388023 RCV004534333 RCV004734519 RCV004542628 RCV004532398	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatemic rickets, autosomal recessive, 2	Pathogenic; Likely pathogenic	rs1782357136, rs1258544339, rs2114702198, rs1805101, rs1234826768, rs755969803, rs2114643507, rs2114727013, rs1470739291, rs2114726975, rs777367269, rs2483385755, rs2483513145, rs121908248, rs587776797, rs121908249, rs1782451970, rs374270497, rs1554278331, rs149828062, rs763922486, rs373044722	RCV001536097 RCV005042758 RCV002273880 RCV002273882 RCV002273884 RCV002273913 RCV002273915 RCV002273888 RCV002273889 RCV002273895 RCV005044526 RCV004545898 RCV004545899 RCV000014563 RCV000014565 RCV000014566 RCV005038577 RCV005031451 RCV000513219 RCV005004205 RCV000660585 RCV000660584	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypopigmentation-punctate palmoplantar keratoderma syndrome	Pathogenic; Likely pathogenic	rs1782357136, rs1258544339, rs777367269, rs1782451970, rs374270497, rs149828062, rs373044722, rs397518475, rs397518476, rs397518477	RCV001536097 RCV005042758 RCV005044526 RCV005038577 RCV005031451 RCV005004205 RCV005046849 RCV000074401 RCV000074402 RCV000074403	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited obesity	Likely pathogenic; Pathogenic	rs1258544339, rs777367269, rs1782451970, rs374270497, rs149828062, rs373044722	RCV005042758 RCV005044526 RCV005038577 RCV005031451 RCV005004205 RCV005046849	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Obesity	Pathogenic	rs1782357136	RCV001536097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type 2 diabetes mellitus	Pathogenic; Likely pathogenic	rs1782357136, rs2114715547, rs1258544339, rs777367269, rs1782451970, rs374270497, rs149828062, rs373044722	RCV001536097 RCV002249041 RCV002249936 RCV005044526 RCV005038577 RCV005031451 RCV005004205 RCV005046849	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (27)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS	—	GenCC, Orphanet GenCC, Orphanet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PSEUDOXANTHOMA ELASTICUM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	34290314	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLE DISEASE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	24075184,28964717,32598042	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYSTAL ARTHROPATHY	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes mellitus type 2, susceptibility to	Conflicting classifications of pathogenicity; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 28	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia 28, childhood-onset	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	20864642	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypophosphatemic rickets	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypophosphatemic Rickets, Recessive	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin resistance, susceptibility to	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	33592630	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (234)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	BEFREE	21745613		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	24693973		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	23422753	Associate	★☆☆☆☆ Found in Text Mining only
Angioid Streaks	Angioid streaks	BEFREE	22209248		★☆☆☆☆ Found in Text Mining only
Angioid Streaks	Angioid streaks	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	12509614		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	29681152		★☆☆☆☆ Found in Text Mining only
Arterial calcification of infancy	Arterial Calcification	BEFREE	12881724, 17848394, 19521093, 20016754, 20137773, 22229486, 25741938, 26624227, 27467858, 29976176, 30158213, 30206659, 30369595		★☆☆☆☆ Found in Text Mining only
Arterial calcification of infancy	Arterial Calcification	CLINVAR_DG	20016754		★☆☆☆☆ Found in Text Mining only
Arterial calcification of infancy	Arterial Calcification	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1	Arterial Calcification	UNIPROT_DG	12881724, 15605415, 15940697, 20016754, 22209248, 23430823, 27467858		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1	Arterial Calcification	CLINVAR_DG	12881724, 15605415, 16315058, 20016754, 27467858		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1	Arterial Calcification	GENOMICS_ENGLAND_DG	15605415		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arteriosclerosis	Arteriosclerosis	BEFREE	16941279, 20015201		★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	29103441	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31720670		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11168012	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26405014		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	21195542		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	12483464, 16941279, 20015201, 21647535		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypophosphatemic rickets	Hypophosphatemic Rickets	BEFREE	21745613		★☆☆☆☆ Found in Text Mining only
Autosomal recessive hypophosphatemic rickets	Hypophosphatemic Rickets	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Hypophosphatemic Vitamin D Refractory Rickets, X-Linked	BEFREE	20137772, 20137773, 21745613, 23108197, 24216977, 25741938, 31805212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Hypophosphatemic Vitamin D Refractory Rickets, X-Linked	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	16033822		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	24368096		★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	15072822		★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile Duct Diseases	BEFREE	15072822		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	21738662, 22842219, 28942038		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	21738662	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	21195542, 28261095		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23861746, 25201346, 26065921		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25201346, 26065921, 33838601, 35191482, 38117852	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36761762	Stimulate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	11352238, 16207325, 16207345, 20137772, 24075184, 31444901, 31646622, 35482848	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	20015201	Inhibit	★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate arthropathy	Calcium pyrophosphate deposition	BEFREE	21811784		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	BEFREE	17043047, 21811784, 29681152, 29688536		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17970783		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30755817		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33635867	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	29976176	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	31444901	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21282363, 23012391, 34355424	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21282363, 23012391		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	26868433		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21647535, 23422753, 30183354		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	21647535		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	11916943, 17848394, 18184924, 21602183		★☆☆☆☆ Found in Text Mining only
Cole disease	Cole Disease	GENOMICS_ENGLAND_DG	19380683, 24075184, 26617416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole disease	Cole Disease	BEFREE	24075184, 28964717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole disease	Cole Disease	UNIPROT_DG	24075184, 26617416, 28964717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole disease	Cole Disease	ORPHANET_DG	24075184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole disease	Cole Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole disease	Cole Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23036011		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23036011	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23036011	Inhibit	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	25741938		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28497367, 29979387		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28497367, 29979387		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30985656	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	17129580		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28497367, 29979387		★☆☆☆☆ Found in Text Mining only
Coronary Sclerosis, Medial, of Infancy	Coronary Sclerosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16207345, 17638573, 20353559, 22510396, 30111653, 30799235, 31025169		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15126519, 15793263, 16087305, 16231022, 16941279, 17065359, 17287921, 17493546, 18071025, 18184924, 18583883, 19017751, 20176643, 20958205, 21198320, 22842219, 25368487, 30799235		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	18176722, 19656007	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	25222839	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15126519, 15793263, 16087305, 16231022, 16941279, 17065359, 17287921, 17493546, 18071025, 18176722, 18184924, 18583883, 19017751, 20176643, 20958205, 21198320, 22842219, 25368487, 30799235		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	17228024, 18176722, 18426862, 19017751, 20428609, 20958205, 21282363, 26958016	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	16025115, 18176722, 18426862, 18498634, 18551113, 18678618, 18719658, 18950909, 19017751, 19656007, 23012391, 23527042, 25368487, 25463099, 26065921, 26958016	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25539584	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11916943		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10969847, 10969849, 15126519, 15127203, 15793263, 16025115, 16186408, 16607460, 16865358, 16936213, 16941279, 17065358, 17065359, 17493546, 17704904, 18071025, 18184924, 18389334, 18426862, 18498634, 18551113, 18583883, 18657335, 18678618, 18719658, 18950909, 19017751, 19046915, 19368707, 19506043, 19643578, 19656007, 20091022, 20092902, 20428609, 20820885, 20981035, 21153685, 21198320, 21452007, 22136912, 22391941, 23012391, 23111648, 23249316, 23281828, 23527042, 25109753, 25368487, 25539584, 26065921, 26868433, 27238374, 28497367, 28942038, 28951309, 29958952, 31250990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	18464750		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	18950909	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	11916943, 12147786, 18184924, 19506043, 21198320, 22231969, 25794151		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	12147786, 12147787, 18184924		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschromatosis	Dyschromatosis	BEFREE	28964717		★☆☆☆☆ Found in Text Mining only
Dyschromatosis symmetrica hereditaria 1	Dyschromatosis symmetrica hereditaria	Pubtator	28964717	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	12547881, 31250990		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29485697		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	29194839		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	29194839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enthesitis	Enthesitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia multiple 1	Epiphyseal dysplasia	Pubtator	11352238	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	20137773, 21745613, 25042154, 25741938, 25894638, 26051471, 26059403		★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic rickets	Pubtator	35340077	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	21810932		★☆☆☆☆ Found in Text Mining only
Generalized arterial calcification of infancy	Arterial Calcification	Orphanet			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24531536, 31536342		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24531536	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21195542, 24531536, 31536342		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	3871642		★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	BEFREE	24216977		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	22703652		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	29976176	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	16278247, 18426862, 28080219		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	16278247, 18426862		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	18426862	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	10707036		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperostosis Diffuse Idiopathic Skeletal	Diffuse idiopathic skeletal hyperostosis	Pubtator	35340077	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	31826312	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	23036011, 29976176	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15126519, 23036011, 25741938		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	15126519		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	19656007	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	22703652	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	20137773, 21745613, 25042154, 25741938, 25894638, 26051471		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypophosphatemic Rickets	Hypophosphatemic Rickets	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypophosphatemic Rickets Autosomal Recessive 2	Hypophosphatemic rickets	Pubtator	20137772, 20137773, 31826312, 34355424, 35340077, 35899574	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic Rickets	GENOMICS_ENGLAND_DG	15605415, 20137772		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic Rickets	UNIPROT_DG	20137772, 20137773, 25741938		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic Rickets	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic Rickets	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	25894638		★☆☆☆☆ Found in Text Mining only
Hypopigmentation-punctate palmoplantar keratoderma syndrome	Hypopigmentation-Punctate Palmoplantar Keratoderma Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoplasia of teeth	Hypoplasia of teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	16025115, 18426862, 18583883, 18950909, 19656007, 20428609, 21282363, 23036011, 25368487, 25463099, 33271541, 34872092	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	10707036		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Displacement	Intervertebral disc displacement	Pubtator	29103441	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	18184924, 21198320		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	18184924		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	11916943, 17848394, 18184924, 21602183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	LHGDN	15802034		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	33271541	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	21602183, 22199358		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29513794		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29513794		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36761762	Stimulate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	28261095		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23861746, 25201346, 26065921, 31536342		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30755817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22826605		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16033822, 17418805, 17970783		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17970783, 22826605, 30755817, 31536342, 31752288		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	23036011	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23861746		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	26059403		★☆☆☆☆ Found in Text Mining only
Medullary nephrocalcinosis	Medullary nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	8579579		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	10969847, 12740448, 17986276, 17990211, 18464750, 18940878, 20176643, 21565692, 27219689		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	1830500		★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	1830500		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37105956	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	12483464, 16186408, 18389334, 24242286		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	12483464, 16186408		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	20428609		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	20428609	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23861746, 28261095, 30108800, 3871642		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	24332798	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	20176643, 30444569		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11739459, 16025115, 16936213, 16968801, 17026496, 17065358, 17065359, 17704904, 17986276, 18389334, 18464750, 18551113, 18583883, 18719658, 18940878, 18948963, 19046915, 19399648, 20981035, 21198320, 21282363, 21452007, 21565692, 22327785, 23375129, 27238374, 28080219, 31350533		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	Pubtator	16025115, 17228024, 18464750, 18498634, 18551113, 18719658, 18776139, 18948963, 19656007, 21282363, 23375129, 31350533	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity Morbid	Obesity	Pubtator	18551113	Associate	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	18551113		★☆☆☆☆ Found in Text Mining only
Organoid Nevus Phakomatosis	Epidermal nevus syndrome	BEFREE	26059403		★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	UNIPROT_DG	10453738		★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	16207325, 16207345, 20109188, 24004678	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20353559	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	BEFREE	21745613		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31805212		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	32880385	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33635867, 36761762	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22826605		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	16025115, 18940878, 18948963		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	18389334		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	18389334		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	LHGDN	18389334		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	BEFREE	20137772		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	15374726, 17719609, 18690303, 31250990		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	15374726		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	15374726	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	29407577		★☆☆☆☆ Found in Text Mining only
Polymyalgia Rheumatica	Polymyalgia rheumatica	Pubtator	11159191	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16033822, 17418805, 17970783		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	16033822		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	22209248, 22229486, 23746223, 24906371, 25025693, 25264593, 25615550, 27467858, 30130617, 31444901, 31646622		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	22209248, 22229486, 25264593, 31444901, 31646622, 35482848	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	ORPHANET_DG	25615550		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma elasticum	Pseudoxanthoma elasticum	Orphanet			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal hypophosphatemia	Renal hypophosphatemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11168012		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	Pubtator	33005041, 34355424	Associate	★☆☆☆☆ Found in Text Mining only
Rickets Hypophosphatemic	Hypophosphatemic rickets	Pubtator	20137773, 31444901	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	38113033	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	22209248	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	22209248		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21810932		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	23422753, 24338010	Associate	★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	27519661, 29103441		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	31444901	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31536342		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	16207325, 20016754, 20137773, 21738662, 22229486, 29976176, 34355424, 37558402	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	21745613, 23108197, 25894638		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ENPP3 8 shared pathwaysPurine metabolism, Pyrimidine metabolism, Starch and sucrose metabolism, Riboflavin metabolism, Nicotinate and nicotinamide metabolism, Pantothenate and CoA biosynthesis, Nucleotide metabolism, Vitamin B5 (pantothenate) metabolism Related via 8 shared pathways including Purine metabolism, Pyrimidine metabolism. NT5DC4 4 shared pathwaysPurine metabolism, Pyrimidine metabolism, Nicotinate and nicotinamide metabolism, Nucleotide metabolism Related via 4 shared pathways including Purine metabolism, Pyrimidine metabolism. ENTPD6 3 shared pathwaysPurine metabolism, Pyrimidine metabolism, Nucleotide metabolism 2 shared evidence sourcesDisgenet (Obesity), CTD (Obesity) Related via 3 shared pathways including Purine metabolism, Pyrimidine metabolism — evidence mostly Disgenet. DMP1 1 shared diseaseHypophosphatemic rickets 7 shared evidence sourcesClinVar (Hypophosphatemic rickets), Disgenet (Hypophosphatemic rickets), GWAS catalog (Hypophosphatemic rickets), Orphanet (Hypophosphatemic rickets), GenCC (Hypophosphatemic rickets), CTD (Hypophosphatemic rickets), HPO (Hypophosphatemic rickets) Related via 1 shared disease including Hypophosphatemic rickets — evidence mostly ClinVar. NT5C1B-RDH14 4 shared pathwaysPurine metabolism, Pyrimidine metabolism, Nicotinate and nicotinamide metabolism, Nucleotide metabolism Related via 4 shared pathways including Purine metabolism, Pyrimidine metabolism.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ENPP3	0	[]	8	["Purine metabolism","Pyrimidine metabolism","Starch and sucrose metabolism","Riboflavin metabolism","Nicotinate and nicotinamide metabolism","Pantothenate and CoA biosynthesis","Nucleotide metabolism","Vitamin B5 (pantothenate) metabolism"]	0	[]
NT5DC4	0	[]	4	["Purine metabolism","Pyrimidine metabolism","Nicotinate and nicotinamide metabolism","Nucleotide metabolism"]	0	[]
ENTPD6	0	[]	3	["Purine metabolism","Pyrimidine metabolism","Nucleotide metabolism"]	2	["Disgenet (Obesity)","CTD (Obesity)"]
DMP1	1	["Hypophosphatemic rickets"]	0	[]	7	["ClinVar (Hypophosphatemic rickets)","Disgenet (Hypophosphatemic rickets)","GWAS catalog (Hypophosphatemic rickets)","Orphanet (Hypophosphatemic rickets)","GenCC (Hypophosphatemic rickets)","CTD (Hypophosphatemic rickets)","HPO (Hypophosphatemic rickets)"]
NT5C1B-RDH14	0	[]	4	["Purine metabolism","Pyrimidine metabolism","Nicotinate and nicotinamide metabolism","Nucleotide metabolism"]	0	[]

Diseases Linked via Similar Genes

Gout Linked via 1 of 5 related genesENPP3 Scoliosis Linked via 1 of 5 related genesENPP3 Hypertension Linked via 1 of 5 related genesENPP3 Asthma Linked via 1 of 5 related genesENTPD6 Metabolic syndrome Linked via 1 of 5 related genesENTPD6

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Gout	1	["ENPP3"]
Scoliosis	1	["ENPP3"]
Hypertension	1	["ENPP3"]
Asthma	1	["ENTPD6"]
Metabolic syndrome	1	["ENTPD6"]