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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5034
Gene name	Prolyl 4-hydroxylase subunit beta
Gene symbol	P4HB
Synonyms (NCBI Gene)	CLCRP1DSIERBA2LGITP4HbetaPDIPDIA1PHDBPO4DBPO4HBPROHB
Chromosome	17
Chromosome location	17q25.3
Summary	This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved

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SNP ID	Visualize variation	Clinical significance	Consequence
rs786204843	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant

381

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miRTarBase ID	miRNA	Experiments	Reference
MIRT003155	hsa-miR-210-3p	2DGEimmunoprecipitaionMass spectrometryMicroarrayqRT-PCRWestern blot	19826008
MIRT049210	hsa-miR-92a-3p	CLASH	23622248
MIRT047151	hsa-miR-183-5p	CLASH	23622248
MIRT042160	hsa-miR-484	CLASH	23622248
MIRT040772	hsa-miR-18a-3p	CLASH	23622248
MIRT040162	hsa-miR-615-3p	CLASH	23622248
MIRT053700	hsa-miR-188-5p	Microarray	22942087
MIRT684885	hsa-miR-548n	HITS-CLIP	23313552
MIRT684884	hsa-miR-514a-5p	HITS-CLIP	23313552
MIRT684883	hsa-miR-451b	HITS-CLIP	23313552
MIRT684882	hsa-miR-518c-5p	HITS-CLIP	23313552
MIRT684881	hsa-miR-4638-3p	HITS-CLIP	23313552
MIRT684880	hsa-miR-378a-3p	HITS-CLIP	23313552
MIRT684879	hsa-miR-378b	HITS-CLIP	23313552
MIRT684878	hsa-miR-378c	HITS-CLIP	23313552
MIRT684877	hsa-miR-378d	HITS-CLIP	23313552
MIRT684876	hsa-miR-378e	HITS-CLIP	23313552
MIRT684875	hsa-miR-378f	HITS-CLIP	23313552
MIRT684874	hsa-miR-378h	HITS-CLIP	23313552
MIRT684873	hsa-miR-378i	HITS-CLIP	23313552
MIRT684872	hsa-miR-422a	HITS-CLIP	23313552
MIRT684871	hsa-miR-6516-3p	HITS-CLIP	23313552
MIRT684870	hsa-miR-4520-3p	HITS-CLIP	23313552
MIRT684869	hsa-miR-3672	HITS-CLIP	23313552
MIRT684885	hsa-miR-548n	HITS-CLIP	23313552
MIRT684884	hsa-miR-514a-5p	HITS-CLIP	23313552
MIRT684883	hsa-miR-451b	HITS-CLIP	23313552
MIRT684882	hsa-miR-518c-5p	HITS-CLIP	23313552
MIRT684881	hsa-miR-4638-3p	HITS-CLIP	23313552
MIRT684880	hsa-miR-378a-3p	HITS-CLIP	23313552
MIRT684879	hsa-miR-378b	HITS-CLIP	23313552
MIRT684878	hsa-miR-378c	HITS-CLIP	23313552
MIRT684877	hsa-miR-378d	HITS-CLIP	23313552
MIRT684876	hsa-miR-378e	HITS-CLIP	23313552
MIRT684875	hsa-miR-378f	HITS-CLIP	23313552
MIRT684874	hsa-miR-378h	HITS-CLIP	23313552
MIRT684873	hsa-miR-378i	HITS-CLIP	23313552
MIRT684872	hsa-miR-422a	HITS-CLIP	23313552
MIRT684871	hsa-miR-6516-3p	HITS-CLIP	23313552
MIRT684870	hsa-miR-4520-3p	HITS-CLIP	23313552
MIRT684869	hsa-miR-3672	HITS-CLIP	23313552
MIRT003155	hsa-miR-210-3p	MicroarrayqRT-PCR	35816043
MIRT1209171	hsa-miR-1180	CLIP-seq
MIRT1209172	hsa-miR-1225-3p	CLIP-seq
MIRT1209173	hsa-miR-1233	CLIP-seq
MIRT1209174	hsa-miR-1252	CLIP-seq
MIRT1209175	hsa-miR-1254	CLIP-seq
MIRT1209176	hsa-miR-1270	CLIP-seq
MIRT1209177	hsa-miR-1273f	CLIP-seq
MIRT1209178	hsa-miR-1321	CLIP-seq
MIRT1209179	hsa-miR-1471	CLIP-seq
MIRT1209180	hsa-miR-1587	CLIP-seq
MIRT1209181	hsa-miR-1827	CLIP-seq
MIRT1209182	hsa-miR-204	CLIP-seq
MIRT1209183	hsa-miR-205	CLIP-seq
MIRT1209184	hsa-miR-211	CLIP-seq
MIRT1209185	hsa-miR-3116	CLIP-seq
MIRT1209186	hsa-miR-3121-3p	CLIP-seq
MIRT1209187	hsa-miR-3134	CLIP-seq
MIRT1209188	hsa-miR-3185	CLIP-seq
MIRT1209189	hsa-miR-3187-3p	CLIP-seq
MIRT1209190	hsa-miR-3189-3p	CLIP-seq
MIRT1209191	hsa-miR-338-3p	CLIP-seq
MIRT1209192	hsa-miR-3545-5p	CLIP-seq
MIRT1209193	hsa-miR-3611	CLIP-seq
MIRT1209194	hsa-miR-3612	CLIP-seq
MIRT1209195	hsa-miR-362-5p	CLIP-seq
MIRT1209196	hsa-miR-378	CLIP-seq
MIRT1209197	hsa-miR-3920	CLIP-seq
MIRT1209198	hsa-miR-3943	CLIP-seq
MIRT1209199	hsa-miR-3944-5p	CLIP-seq
MIRT1209200	hsa-miR-4254	CLIP-seq
MIRT1209201	hsa-miR-4261	CLIP-seq
MIRT1209202	hsa-miR-4286	CLIP-seq
MIRT1209203	hsa-miR-4290	CLIP-seq
MIRT1209204	hsa-miR-4323	CLIP-seq
MIRT1209205	hsa-miR-4417	CLIP-seq
MIRT1209206	hsa-miR-4419a	CLIP-seq
MIRT1209207	hsa-miR-4435	CLIP-seq
MIRT1209208	hsa-miR-4440	CLIP-seq
MIRT1209209	hsa-miR-4455	CLIP-seq
MIRT1209210	hsa-miR-4492	CLIP-seq
MIRT1209211	hsa-miR-4496	CLIP-seq
MIRT1209212	hsa-miR-4498	CLIP-seq
MIRT1209213	hsa-miR-4510	CLIP-seq
MIRT1209214	hsa-miR-4511	CLIP-seq
MIRT1209215	hsa-miR-4520a-3p	CLIP-seq
MIRT1209216	hsa-miR-4530	CLIP-seq
MIRT1209217	hsa-miR-4656	CLIP-seq
MIRT1209218	hsa-miR-4664-3p	CLIP-seq
MIRT1209219	hsa-miR-4667-3p	CLIP-seq
MIRT1209220	hsa-miR-4675	CLIP-seq
MIRT1209221	hsa-miR-4683	CLIP-seq
MIRT1209222	hsa-miR-4701-5p	CLIP-seq
MIRT1209223	hsa-miR-4728-5p	CLIP-seq
MIRT1209224	hsa-miR-4731-5p	CLIP-seq
MIRT1209225	hsa-miR-4733-3p	CLIP-seq
MIRT1209226	hsa-miR-4739	CLIP-seq
MIRT1209227	hsa-miR-4741	CLIP-seq
MIRT1209228	hsa-miR-4756-5p	CLIP-seq
MIRT1209229	hsa-miR-4758-3p	CLIP-seq
MIRT1209230	hsa-miR-498	CLIP-seq
MIRT1209231	hsa-miR-500b	CLIP-seq
MIRT1209232	hsa-miR-541	CLIP-seq
MIRT1209233	hsa-miR-548ac	CLIP-seq
MIRT1209234	hsa-miR-548d-3p	CLIP-seq
MIRT1209235	hsa-miR-548s	CLIP-seq
MIRT1209236	hsa-miR-548z	CLIP-seq
MIRT1209237	hsa-miR-588	CLIP-seq
MIRT1209238	hsa-miR-609	CLIP-seq
MIRT1209239	hsa-miR-620	CLIP-seq
MIRT1209240	hsa-miR-629	CLIP-seq
MIRT1209241	hsa-miR-650	CLIP-seq
MIRT1209242	hsa-miR-654-5p	CLIP-seq
MIRT1209243	hsa-miR-661	CLIP-seq
MIRT1209244	hsa-miR-670	CLIP-seq
MIRT1209245	hsa-miR-762	CLIP-seq
MIRT1209246	hsa-miR-766	CLIP-seq
MIRT1209247	hsa-miR-885-3p	CLIP-seq
MIRT1209248	hsa-miR-887	CLIP-seq
MIRT1209247	hsa-miR-885-3p	CLIP-seq
MIRT1209171	hsa-miR-1180	CLIP-seq
MIRT2060078	hsa-miR-1205	CLIP-seq
MIRT2060079	hsa-miR-1273	CLIP-seq
MIRT2060080	hsa-miR-1307	CLIP-seq
MIRT2060081	hsa-miR-136	CLIP-seq
MIRT2060082	hsa-miR-149	CLIP-seq
MIRT2060083	hsa-miR-1972	CLIP-seq
MIRT1209183	hsa-miR-205	CLIP-seq
MIRT2060084	hsa-miR-3064-5p	CLIP-seq
MIRT2060085	hsa-miR-3119	CLIP-seq
MIRT1209186	hsa-miR-3121-3p	CLIP-seq
MIRT1209188	hsa-miR-3185	CLIP-seq
MIRT1209189	hsa-miR-3187-3p	CLIP-seq
MIRT1209190	hsa-miR-3189-3p	CLIP-seq
MIRT1209191	hsa-miR-338-3p	CLIP-seq
MIRT1209192	hsa-miR-3545-5p	CLIP-seq
MIRT1209193	hsa-miR-3611	CLIP-seq
MIRT1209195	hsa-miR-362-5p	CLIP-seq
MIRT2060086	hsa-miR-383	CLIP-seq
MIRT1209197	hsa-miR-3920	CLIP-seq
MIRT2060087	hsa-miR-3926	CLIP-seq
MIRT1209198	hsa-miR-3943	CLIP-seq
MIRT1209199	hsa-miR-3944-5p	CLIP-seq
MIRT1209202	hsa-miR-4286	CLIP-seq
MIRT1209203	hsa-miR-4290	CLIP-seq
MIRT2060088	hsa-miR-4312	CLIP-seq
MIRT2060089	hsa-miR-4418	CLIP-seq
MIRT1209207	hsa-miR-4435	CLIP-seq
MIRT1209209	hsa-miR-4455	CLIP-seq
MIRT1209216	hsa-miR-4530	CLIP-seq
MIRT2060090	hsa-miR-4638-5p	CLIP-seq
MIRT1209218	hsa-miR-4664-3p	CLIP-seq
MIRT1209219	hsa-miR-4667-3p	CLIP-seq
MIRT1209222	hsa-miR-4701-5p	CLIP-seq
MIRT2060091	hsa-miR-4704-3p	CLIP-seq
MIRT2060092	hsa-miR-4717-5p	CLIP-seq
MIRT2060093	hsa-miR-4718	CLIP-seq
MIRT2060094	hsa-miR-4727-5p	CLIP-seq
MIRT1209224	hsa-miR-4731-5p	CLIP-seq
MIRT2060095	hsa-miR-4732-5p	CLIP-seq
MIRT2060096	hsa-miR-4772-5p	CLIP-seq
MIRT2060097	hsa-miR-4794	CLIP-seq
MIRT1209230	hsa-miR-498	CLIP-seq
MIRT1209231	hsa-miR-500b	CLIP-seq
MIRT2060098	hsa-miR-509-3-5p	CLIP-seq
MIRT2060099	hsa-miR-509-5p	CLIP-seq
MIRT1209235	hsa-miR-548s	CLIP-seq
MIRT1209237	hsa-miR-588	CLIP-seq
MIRT2060100	hsa-miR-597	CLIP-seq
MIRT1209238	hsa-miR-609	CLIP-seq
MIRT1209240	hsa-miR-629	CLIP-seq
MIRT2060101	hsa-miR-668	CLIP-seq
MIRT1209246	hsa-miR-766	CLIP-seq
MIRT1209247	hsa-miR-885-3p	CLIP-seq
MIRT2288452	hsa-miR-10a	CLIP-seq
MIRT2288453	hsa-miR-10b	CLIP-seq
MIRT1209171	hsa-miR-1180	CLIP-seq
MIRT2060078	hsa-miR-1205	CLIP-seq
MIRT2060079	hsa-miR-1273	CLIP-seq
MIRT2288454	hsa-miR-1305	CLIP-seq
MIRT1209178	hsa-miR-1321	CLIP-seq
MIRT2288455	hsa-miR-1470	CLIP-seq
MIRT1209179	hsa-miR-1471	CLIP-seq
MIRT2288456	hsa-miR-151-5p	CLIP-seq
MIRT2288457	hsa-miR-151b	CLIP-seq
MIRT1209181	hsa-miR-1827	CLIP-seq
MIRT2288458	hsa-miR-188-3p	CLIP-seq
MIRT1209183	hsa-miR-205	CLIP-seq
MIRT2288459	hsa-miR-2681	CLIP-seq
MIRT2288460	hsa-miR-2964a-5p	CLIP-seq
MIRT1209186	hsa-miR-3121-3p	CLIP-seq
MIRT1209187	hsa-miR-3134	CLIP-seq
MIRT1209188	hsa-miR-3185	CLIP-seq
MIRT1209189	hsa-miR-3187-3p	CLIP-seq
MIRT1209190	hsa-miR-3189-3p	CLIP-seq
MIRT1209192	hsa-miR-3545-5p	CLIP-seq
MIRT1209194	hsa-miR-3612	CLIP-seq
MIRT1209195	hsa-miR-362-5p	CLIP-seq
MIRT1209196	hsa-miR-378	CLIP-seq
MIRT2060086	hsa-miR-383	CLIP-seq
MIRT1209197	hsa-miR-3920	CLIP-seq
MIRT2060087	hsa-miR-3926	CLIP-seq
MIRT2288461	hsa-miR-3937	CLIP-seq
MIRT1209198	hsa-miR-3943	CLIP-seq
MIRT1209199	hsa-miR-3944-5p	CLIP-seq
MIRT1209202	hsa-miR-4286	CLIP-seq
MIRT1209203	hsa-miR-4290	CLIP-seq
MIRT2060089	hsa-miR-4418	CLIP-seq
MIRT1209206	hsa-miR-4419a	CLIP-seq
MIRT1209207	hsa-miR-4435	CLIP-seq
MIRT1209209	hsa-miR-4455	CLIP-seq
MIRT1209213	hsa-miR-4510	CLIP-seq
MIRT1209214	hsa-miR-4511	CLIP-seq
MIRT1209215	hsa-miR-4520a-3p	CLIP-seq
MIRT1209218	hsa-miR-4664-3p	CLIP-seq
MIRT1209219	hsa-miR-4667-3p	CLIP-seq
MIRT2288462	hsa-miR-4695-5p	CLIP-seq
MIRT1209222	hsa-miR-4701-5p	CLIP-seq
MIRT2060091	hsa-miR-4704-3p	CLIP-seq
MIRT2060093	hsa-miR-4718	CLIP-seq
MIRT1209223	hsa-miR-4728-5p	CLIP-seq
MIRT1209224	hsa-miR-4731-5p	CLIP-seq
MIRT2060095	hsa-miR-4732-5p	CLIP-seq
MIRT1209226	hsa-miR-4739	CLIP-seq
MIRT1209228	hsa-miR-4756-5p	CLIP-seq
MIRT2288463	hsa-miR-4761-5p	CLIP-seq
MIRT2288464	hsa-miR-4765	CLIP-seq
MIRT2060096	hsa-miR-4772-5p	CLIP-seq
MIRT1209230	hsa-miR-498	CLIP-seq
MIRT2288465	hsa-miR-499-3p	CLIP-seq
MIRT2288466	hsa-miR-499a-3p	CLIP-seq
MIRT1209231	hsa-miR-500b	CLIP-seq
MIRT2060098	hsa-miR-509-3-5p	CLIP-seq
MIRT2060099	hsa-miR-509-5p	CLIP-seq
MIRT2288467	hsa-miR-532-3p	CLIP-seq
MIRT2288468	hsa-miR-548k	CLIP-seq
MIRT1209235	hsa-miR-548s	CLIP-seq
MIRT1209237	hsa-miR-588	CLIP-seq
MIRT2288469	hsa-miR-591	CLIP-seq
MIRT2060100	hsa-miR-597	CLIP-seq
MIRT2288470	hsa-miR-602	CLIP-seq
MIRT1209238	hsa-miR-609	CLIP-seq
MIRT1209240	hsa-miR-629	CLIP-seq
MIRT1209241	hsa-miR-650	CLIP-seq
MIRT2060101	hsa-miR-668	CLIP-seq
MIRT1209244	hsa-miR-670	CLIP-seq
MIRT2288471	hsa-miR-873	CLIP-seq
MIRT1209247	hsa-miR-885-3p	CLIP-seq
MIRT1209171	hsa-miR-1180	CLIP-seq
MIRT2060078	hsa-miR-1205	CLIP-seq
MIRT2060079	hsa-miR-1273	CLIP-seq
MIRT2060081	hsa-miR-136	CLIP-seq
MIRT1209183	hsa-miR-205	CLIP-seq
MIRT1209189	hsa-miR-3187-3p	CLIP-seq
MIRT2439152	hsa-miR-335	CLIP-seq
MIRT2060086	hsa-miR-383	CLIP-seq
MIRT2060087	hsa-miR-3926	CLIP-seq
MIRT2288461	hsa-miR-3937	CLIP-seq
MIRT1209199	hsa-miR-3944-5p	CLIP-seq
MIRT1209203	hsa-miR-4290	CLIP-seq
MIRT2060089	hsa-miR-4418	CLIP-seq
MIRT1209207	hsa-miR-4435	CLIP-seq
MIRT1209209	hsa-miR-4455	CLIP-seq
MIRT2439153	hsa-miR-4661-3p	CLIP-seq
MIRT1209218	hsa-miR-4664-3p	CLIP-seq
MIRT1209219	hsa-miR-4667-3p	CLIP-seq
MIRT2439154	hsa-miR-4696	CLIP-seq
MIRT1209222	hsa-miR-4701-5p	CLIP-seq
MIRT2060091	hsa-miR-4704-3p	CLIP-seq
MIRT1209224	hsa-miR-4731-5p	CLIP-seq
MIRT2060096	hsa-miR-4772-5p	CLIP-seq
MIRT1209230	hsa-miR-498	CLIP-seq
MIRT2060098	hsa-miR-509-3-5p	CLIP-seq
MIRT2060099	hsa-miR-509-5p	CLIP-seq
MIRT1209235	hsa-miR-548s	CLIP-seq
MIRT1209237	hsa-miR-588	CLIP-seq
MIRT1209238	hsa-miR-609	CLIP-seq
MIRT1209240	hsa-miR-629	CLIP-seq
MIRT2060101	hsa-miR-668	CLIP-seq
MIRT1209244	hsa-miR-670	CLIP-seq
MIRT1209174	hsa-miR-1252	CLIP-seq
MIRT1209175	hsa-miR-1254	CLIP-seq
MIRT1209176	hsa-miR-1270	CLIP-seq
MIRT2060079	hsa-miR-1273	CLIP-seq
MIRT1209177	hsa-miR-1273f	CLIP-seq
MIRT2060081	hsa-miR-136	CLIP-seq
MIRT1209180	hsa-miR-1587	CLIP-seq
MIRT1209182	hsa-miR-204	CLIP-seq
MIRT1209184	hsa-miR-211	CLIP-seq
MIRT2288459	hsa-miR-2681	CLIP-seq
MIRT1209185	hsa-miR-3116	CLIP-seq
MIRT1209187	hsa-miR-3134	CLIP-seq
MIRT2439152	hsa-miR-335	CLIP-seq
MIRT2060086	hsa-miR-383	CLIP-seq
MIRT1209200	hsa-miR-4254	CLIP-seq
MIRT1209201	hsa-miR-4261	CLIP-seq
MIRT1209204	hsa-miR-4323	CLIP-seq
MIRT1209205	hsa-miR-4417	CLIP-seq
MIRT1209210	hsa-miR-4492	CLIP-seq
MIRT1209211	hsa-miR-4496	CLIP-seq
MIRT1209212	hsa-miR-4498	CLIP-seq
MIRT1209217	hsa-miR-4656	CLIP-seq
MIRT2439153	hsa-miR-4661-3p	CLIP-seq
MIRT1209220	hsa-miR-4675	CLIP-seq
MIRT1209221	hsa-miR-4683	CLIP-seq
MIRT2439154	hsa-miR-4696	CLIP-seq
MIRT2060091	hsa-miR-4704-3p	CLIP-seq
MIRT1209225	hsa-miR-4733-3p	CLIP-seq
MIRT1209227	hsa-miR-4741	CLIP-seq
MIRT1209229	hsa-miR-4758-3p	CLIP-seq
MIRT2060096	hsa-miR-4772-5p	CLIP-seq
MIRT2288465	hsa-miR-499-3p	CLIP-seq
MIRT2288466	hsa-miR-499a-3p	CLIP-seq
MIRT1209232	hsa-miR-541	CLIP-seq
MIRT1209233	hsa-miR-548ac	CLIP-seq
MIRT1209234	hsa-miR-548d-3p	CLIP-seq
MIRT2288468	hsa-miR-548k	CLIP-seq
MIRT1209236	hsa-miR-548z	CLIP-seq
MIRT1209239	hsa-miR-620	CLIP-seq
MIRT1209242	hsa-miR-654-5p	CLIP-seq
MIRT1209243	hsa-miR-661	CLIP-seq
MIRT1209245	hsa-miR-762	CLIP-seq
MIRT2288471	hsa-miR-873	CLIP-seq
MIRT1209248	hsa-miR-887	CLIP-seq
MIRT1209173	hsa-miR-1233	CLIP-seq
MIRT1209174	hsa-miR-1252	CLIP-seq
MIRT1209175	hsa-miR-1254	CLIP-seq
MIRT1209176	hsa-miR-1270	CLIP-seq
MIRT2060079	hsa-miR-1273	CLIP-seq
MIRT1209177	hsa-miR-1273f	CLIP-seq
MIRT2060081	hsa-miR-136	CLIP-seq
MIRT1209180	hsa-miR-1587	CLIP-seq
MIRT1209182	hsa-miR-204	CLIP-seq
MIRT1209184	hsa-miR-211	CLIP-seq
MIRT2288459	hsa-miR-2681	CLIP-seq
MIRT1209185	hsa-miR-3116	CLIP-seq
MIRT2687016	hsa-miR-3126-5p	CLIP-seq
MIRT1209187	hsa-miR-3134	CLIP-seq
MIRT2687017	hsa-miR-3179	CLIP-seq
MIRT2687018	hsa-miR-3202	CLIP-seq
MIRT2439152	hsa-miR-335	CLIP-seq
MIRT2060086	hsa-miR-383	CLIP-seq
MIRT1209200	hsa-miR-4254	CLIP-seq
MIRT1209201	hsa-miR-4261	CLIP-seq
MIRT2687019	hsa-miR-4271	CLIP-seq
MIRT1209204	hsa-miR-4323	CLIP-seq
MIRT1209205	hsa-miR-4417	CLIP-seq
MIRT1209206	hsa-miR-4419a	CLIP-seq
MIRT2687020	hsa-miR-4459	CLIP-seq
MIRT1209210	hsa-miR-4492	CLIP-seq
MIRT2687021	hsa-miR-4493	CLIP-seq
MIRT1209211	hsa-miR-4496	CLIP-seq
MIRT1209212	hsa-miR-4498	CLIP-seq
MIRT1209213	hsa-miR-4510	CLIP-seq
MIRT1209217	hsa-miR-4656	CLIP-seq
MIRT2439153	hsa-miR-4661-3p	CLIP-seq
MIRT1209220	hsa-miR-4675	CLIP-seq
MIRT1209221	hsa-miR-4683	CLIP-seq
MIRT2439154	hsa-miR-4696	CLIP-seq
MIRT2060091	hsa-miR-4704-3p	CLIP-seq
MIRT2687022	hsa-miR-4725-3p	CLIP-seq
MIRT1209225	hsa-miR-4733-3p	CLIP-seq
MIRT1209227	hsa-miR-4741	CLIP-seq
MIRT2687023	hsa-miR-4747-5p	CLIP-seq
MIRT1209229	hsa-miR-4758-3p	CLIP-seq
MIRT2060096	hsa-miR-4772-5p	CLIP-seq
MIRT2288465	hsa-miR-499-3p	CLIP-seq
MIRT2288466	hsa-miR-499a-3p	CLIP-seq
MIRT1209232	hsa-miR-541	CLIP-seq
MIRT1209233	hsa-miR-548ac	CLIP-seq
MIRT1209234	hsa-miR-548d-3p	CLIP-seq
MIRT2288468	hsa-miR-548k	CLIP-seq
MIRT1209236	hsa-miR-548z	CLIP-seq
MIRT1209239	hsa-miR-620	CLIP-seq
MIRT1209242	hsa-miR-654-5p	CLIP-seq
MIRT1209243	hsa-miR-661	CLIP-seq
MIRT1209245	hsa-miR-762	CLIP-seq
MIRT2687024	hsa-miR-765	CLIP-seq
MIRT2288471	hsa-miR-873	CLIP-seq
MIRT1209248	hsa-miR-887	CLIP-seq

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003756	Function	Protein disulfide isomerase activity	EXP	15720785
GO:0003756	Function	Protein disulfide isomerase activity	IBA
GO:0003756	Function	Protein disulfide isomerase activity	IDA	15225124, 21091435, 32149426
GO:0003756	Function	Protein disulfide isomerase activity	IEA
GO:0003756	Function	Protein disulfide isomerase activity	TAS	2846539
GO:0003779	Function	Actin binding	IPI	24415753
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	IDA	7753822
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	TAS	2846539
GO:0005178	Function	Integrin binding	IEA
GO:0005178	Function	Integrin binding	IPI	21670307
GO:0005515	Function	Protein binding	IPI	12095988, 16478722, 17055437, 19942855, 20802462, 21057456, 21670307, 23475612, 23861867, 24098548, 25108285, 26224785, 26370502, 30021884, 31992623, 32296183, 32812023, 32814053, 33961781, 35063084
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	32149426
GO:0005783	Component	Endoplasmic reticulum	IDA	12095988, 23152784, 23475612, 24415753
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	3034602
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IDA
GO:0005829	Component	Cytosol	IDA	24415753
GO:0005856	Component	Cytoskeleton	IDA	24415753
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006457	Process	Protein folding	IBA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IDA	21670307
GO:0009897	Component	External side of plasma membrane	IEA
GO:0015035	Function	Protein-disulfide reductase activity	EXP	21308844
GO:0015035	Function	Protein-disulfide reductase activity	IDA	16677074, 21670307
GO:0015035	Function	Protein-disulfide reductase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016222	Component	Procollagen-proline 4-dioxygenase complex	IDA	7753822
GO:0016853	Function	Isomerase activity	IEA
GO:0016972	Function	Thiol oxidase activity	IDA	21091435
GO:0018401	Process	Peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA	7753822
GO:0019899	Function	Enzyme binding	IEA
GO:0030027	Component	Lamellipodium	IDA	24415753
GO:0030070	Process	Insulin processing	IEA
GO:0030070	Process	Insulin processing	TAS
GO:0032991	Component	Protein-containing complex	IDA	24415753
GO:0034663	Component	Endoplasmic reticulum chaperone complex	IEA
GO:0034975	Process	Protein folding in endoplasmic reticulum	IDA	21091435
GO:0034975	Process	Protein folding in endoplasmic reticulum	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IBA
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	12095988
GO:0035722	Process	Interleukin-12-mediated signaling pathway	TAS
GO:0038155	Process	Interleukin-23-mediated signaling pathway	TAS
GO:0042470	Component	Melanosome	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045785	Process	Positive regulation of cell adhesion	IMP	24415753
GO:0046598	Process	Positive regulation of viral entry into host cell	IDA	21670307
GO:0046598	Process	Positive regulation of viral entry into host cell	IMP	21670307
GO:0046982	Function	Protein heterodimerization activity	IDA	23475612
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0071456	Process	Cellular response to hypoxia	IMP	12095988
GO:0098761	Process	Cellular response to interleukin-7	IEA
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IMP	24415753
GO:1902175	Process	Regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP	12095988
GO:2000406	Process	Positive regulation of T cell migration	IDA	21670307

MIM	HGNC	e!Ensembl
176790	8548	ENSG00000185624

P07237

Protein name

Protein disulfide-isomerase (PDI) (EC 5.3.4.1) (Cellular thyroid hormone-binding protein) (Prolyl 4-hydroxylase subunit beta) (p55)

Protein function

This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural m

PDB

1BJX , 1MEK , 1X5C , 2BJX , 2K18 , 3BJ5 , 3UEM , 4EKZ , 4EL1 , 4JU5 , 6I7S , 7ZSC , 8EOJ , 8GDY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00085	Thioredoxin	25 → 131	Thioredoxin	Domain
PF13848	Thioredoxin_6	161 → 345		Domain
PF00085	Thioredoxin	368 → 472	Thioredoxin	Domain

Sequence

MLRRALLCLAVAALVRADAPEEEDHVLVLRKSNFAEALAAHKYLLVEFYAPWCGHCKALA
PEYAKAAGKLKAEGSEIRLAKVDATEESDLAQQYGVRGYPTIKFFRNGDTASPKEYTAGR
EADDIVNWLKKRTGPAATTLPDGAAAESLVESSEVAVIGFFKDVESDSAKQFLQAAEAID
DIPFGITSNSDVFSKYQLDKDGVVLFKKFDEGRNNFEGEVTKENLLDFIKHNQLPLVIEF
TEQTAPKIFGGEIKTHILLFLPKSVSDYDGKLSNFKTAAESFKGKILFIFIDSDHTDNQR
ILEFFGLKKEECPAVRLITLEEEMTKYKPESEELTAERITEFCHRFLEGKIKPHLMSQEL
PEDWDKQPVKVLVGKNFEDVAFDEKKNVFVEFYAPWCGHCKQLAPIWDKLGETYKDHENI
VIAKMDSTANEVEAVKVHSFPTLKFFPASADRTVIDYNGERTLDGFKKFLESGGQDGAGD
DDDLEDLEEAEEPDMEEDDDQKAVKDEL

Sequence length

508

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		Collagen biosynthesis and modifying enzymes Detoxification of Reactive Oxygen Species Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Hedgehog ligand biogenesis VLDL assembly Post-translational protein phosphorylation Chylomicron assembly Interleukin-12 signaling Interleukin-23 signaling

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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cole-Carpenter syndrome 1	Likely pathogenic; Pathogenic	rs2143371167, rs786204843	RCV001530199 RCV000169753	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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.
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLE CARPENTER SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole-Carpenter syndrome	Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 1	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
P4HB-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 17	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (187)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abetalipoproteinemia	Abetalipoproteinemia	Pubtator	8939939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	8641139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	2243505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21130735, 24094038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16847061, 23043510, 23118353, 23337974, 25913742, 27786579, 29409023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	16847061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25913742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	16847061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	26000911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	30586735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	12877395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29535371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	18759277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28394850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28394850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	36819785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	28829359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25389050, 28542133, 29197144, 31722418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	16947419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25389050, 28542133, 29197144, 31722418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30662436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	27373828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	39237030	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	28068465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	10071076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	29263160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	28337259, 30656183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	10744727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29235250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	29235250	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22393307, 22819674, 29316394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16048908, 20005186, 33125139, 33637669, 35014681, 35301432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32023222, 35014681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28044432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	38003657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31640086, 32003756, 32830535, 33858375, 34620162, 35036081	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22988091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	28337259, 30656183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	10744727, 30586735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	29970252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	BEFREE	30987467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cole Carpenter syndrome	Cole Carpenter Syndrome	BEFREE	25683117, 29263160, 30063094		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole Carpenter syndrome	Cole Carpenter Syndrome	GENOMICS_ENGLAND_DG	25683117		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole Carpenter syndrome	Cole Carpenter Syndrome	ORPHANET_DG	25683117		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole Carpenter syndrome	Cole-carpenter syndrome	Pubtator	25683117, 29263160, 29384951	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole Carpenter syndrome	Cole Carpenter Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole-Carpenter syndrome	Cole Carpenter Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLE-CARPENTER SYNDROME 1	Cole Carpenter Syndrome	GENOMICS_ENGLAND_DG	25683117, 29384951		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COLE-CARPENTER SYNDROME 1	Cole Carpenter Syndrome	UNIPROT_DG	25683117		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COLE-CARPENTER SYNDROME 1	Cole Carpenter Syndrome	BEFREE	29384951		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COLE-CARPENTER SYNDROME 1	Cole Carpenter Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon Carcinoma	Colon Carcinoma	BEFREE	30431122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30535551, 30760703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23004678, 30431122, 30760703, 36202782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Communicating Hydrocephalus	Communicating Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17825711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31640086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29540791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19221600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	24358121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	1320571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	28463717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28805100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28394850, 29781651, 31731059, 31736109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	1692206, 28376661, 29394254, 29574108, 31437127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	1692206, 28376661, 29394254, 29574108, 31437127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33161510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	7926295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23638076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	11703593, 39251943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33161510	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	29763614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30524244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	11732005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Antral Vascular Ectasia	Vascular ectasia	BEFREE	30119927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	29763614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29235250, 30759340, 31149044, 7566386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29235250, 30759340, 32830969, 35436915, 36927978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23444257, 29069756, 29235250, 30759340, 30996048, 31149044, 7566386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21979894, 32023222	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29069756, 29207176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29207176	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	32830535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	33934566	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	28337259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	17825711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	33125139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	25593336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	1691591, 28249638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28249638, 29462355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31722418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28656745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29904245, 31467922, 35301432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30119927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28805100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29175527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	34478492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21471526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21471526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	1835747, 2146981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21471526, 8445947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	12149223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21649721, 28052026, 31270975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1472125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	26700650	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	23444257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	29235250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22393307, 22819674, 29316394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	17901709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22988091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11920609, 29904245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17013530, 23349913, 28613814, 28648146, 28650993, 29069756, 29262583, 29410027, 30652973, 30826359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30431122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16048908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28394850, 29781651, 31731059, 31736109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	BEFREE	31586943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	32830535, 33125139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36202782	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30315229, 31787362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29535371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	BEFREE	29972788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10071076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29725368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	BEFREE	31322713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	30407734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11920609, 28160557, 28850778, 29970252, 30344729, 30996048, 31640086, 8387543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10744727, 15353226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23559015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24091828, 27142583, 28044432, 28648146, 28650993, 31343165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30344729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31184304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orbital craniosynostosis	Orbital craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	25683117		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	30913006, 30948499		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	30948499	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	18924182	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	19760141		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	18924182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	18924182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	7933116		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22988091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27142583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	2243505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28805100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37270661, 37480146	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudoachondroplasia	Pseudoachondroplasia	BEFREE	11691584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28271157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28243236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10088772, 11953970, 1320571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	3138285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29970252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28463717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	29263160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	Spastic Ataxia	BEFREE	31534027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	30987467		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	BEFREE	24413982		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	CTD_human_DG	24413982		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20497865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29904245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29904245, 31467922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28271157, 29948346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	34400417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	30652973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	18759277, 34400417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33125139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19221600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36562811, 37790935, 38299148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37845668	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	31518431		★★★★★ ★☆☆☆☆ Found in Text Mining only

P4HB (prolyl 4-hydroxylase subunit beta)