CDC73 (cell division cycle 73)

Gene

• Entrez ID: 79577
• Gene name: Cell division cycle 73
• Gene symbol: CDC73
• Synonyms (NCBI Gene): C1orf28, FIHP, HPTJT, HRPT1, HRPT2, HYX
• Chromosome: 1
• Chromosome location: 1q31.2
• Summary: This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone me

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356649	->AG	Pathogenic	Frameshift variant, coding sequence variant
rs80356650	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776559	G>A	Pathogenic	Splice acceptor variant
rs760591174	AGAG>-,AGAGAG	Pathogenic	Frameshift variant, coding sequence variant
rs770439843	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs886041580	AGG>C	Pathogenic	Frameshift variant, coding sequence variant
rs1060500009	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060500012	G>T	Likely-pathogenic	Splice donor variant
rs1060500019	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793897	A>T	Pathogenic	Splice acceptor variant
rs1225502334	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1225995248	T>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs1269877061	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs1553279085	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553279088	C>T	Pathogenic	Coding sequence variant, stop gained
rs1553288362	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1558283535	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1572152420	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572154885	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572215344	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020706	hsa-miR-155-5p	Proteomics	18668040
MIRT048545	hsa-miR-100-5p	CLASH	23622248
MIRT046249	hsa-miR-23b-3p	CLASH	23622248
MIRT061173	hsa-miR-495-3p	HITS-CLIP	23313552
MIRT061176	hsa-miR-5688	HITS-CLIP	23313552
MIRT704841	hsa-miR-4797-5p	HITS-CLIP	23313552
MIRT704840	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT704839	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT704838	hsa-miR-759	HITS-CLIP	23313552
MIRT704837	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT704836	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT704835	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT704834	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT704833	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT704832	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT704831	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT704830	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT704829	hsa-miR-6776-5p	HITS-CLIP	23313552
MIRT704828	hsa-miR-873-3p	HITS-CLIP	23313552
MIRT704827	hsa-miR-661	HITS-CLIP	23313552
MIRT704826	hsa-miR-542-3p	HITS-CLIP	23313552
MIRT704825	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT704824	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT704823	hsa-miR-3672	HITS-CLIP	23313552
MIRT704822	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT704821	hsa-miR-1262	HITS-CLIP	23313552
MIRT704820	hsa-miR-4701-3p	HITS-CLIP	23313552
MIRT704819	hsa-miR-6736-5p	HITS-CLIP	23313552
MIRT704818	hsa-miR-217	HITS-CLIP	23313552
MIRT704817	hsa-miR-6807-3p	HITS-CLIP	23313552
MIRT704816	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT704815	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT704814	hsa-miR-940	HITS-CLIP	23313552
MIRT704813	hsa-miR-3929	HITS-CLIP	23313552
MIRT704812	hsa-miR-4419b	HITS-CLIP	23313552
MIRT704811	hsa-miR-4478	HITS-CLIP	23313552
MIRT704810	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT704809	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT704807	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT704808	hsa-miR-146a-5p	HITS-CLIP	23313552
MIRT704806	hsa-miR-146b-5p	HITS-CLIP	23313552
MIRT704805	hsa-miR-7153-5p	HITS-CLIP	23313552
MIRT704804	hsa-miR-1827	HITS-CLIP	23313552
MIRT704803	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT704802	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT704800	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT704801	hsa-miR-6076	HITS-CLIP	23313552
MIRT704799	hsa-miR-6797-3p	HITS-CLIP	23313552
MIRT704798	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT704797	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT704796	hsa-miR-665	HITS-CLIP	23313552
MIRT659664	hsa-miR-634	HITS-CLIP	23824327
MIRT659663	hsa-miR-1226-3p	HITS-CLIP	23824327
MIRT659662	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT659661	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT659660	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT659659	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT659658	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT659657	hsa-miR-5096	HITS-CLIP	23824327
MIRT630519	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT630518	hsa-miR-4284	HITS-CLIP	23824327
MIRT630517	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT630516	hsa-miR-4747-5p	HITS-CLIP	23824327
MIRT630515	hsa-miR-5196-5p	HITS-CLIP	23824327
MIRT630514	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT630513	hsa-miR-3122	HITS-CLIP	23824327
MIRT630512	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT630511	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT630510	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT630519	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT630518	hsa-miR-4284	HITS-CLIP	23824327
MIRT630517	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT630516	hsa-miR-4747-5p	HITS-CLIP	23824327
MIRT630515	hsa-miR-5196-5p	HITS-CLIP	23824327
MIRT630514	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT630513	hsa-miR-3122	HITS-CLIP	23824327
MIRT630512	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT630511	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT630510	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT446051	hsa-miR-3133	PAR-CLIP	22100165
MIRT446050	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT183026	hsa-miR-5692a	PAR-CLIP	22100165
MIRT446049	hsa-miR-4635	PAR-CLIP	22100165
MIRT446051	hsa-miR-3133	PAR-CLIP	22100165
MIRT446050	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT183026	hsa-miR-5692a	PAR-CLIP	22100165
MIRT446049	hsa-miR-4635	PAR-CLIP	22100165
MIRT733812	hsa-miR-1290	Immunohistochemistry (IHC), Luciferase reporter assay, Microarray, qRT-PCR, Western blotting	33790645
MIRT061173	hsa-miR-495-3p	HITS-CLIP	23313552
MIRT061176	hsa-miR-5688	HITS-CLIP	23313552
MIRT704841	hsa-miR-4797-5p	HITS-CLIP	23313552
MIRT704840	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT704839	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT704838	hsa-miR-759	HITS-CLIP	23313552
MIRT704837	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT704836	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT704835	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT704834	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT704833	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT704832	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT704831	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT704830	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT704829	hsa-miR-6776-5p	HITS-CLIP	23313552
MIRT704828	hsa-miR-873-3p	HITS-CLIP	23313552
MIRT704827	hsa-miR-661	HITS-CLIP	23313552
MIRT704826	hsa-miR-542-3p	HITS-CLIP	23313552
MIRT704825	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT704824	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT704823	hsa-miR-3672	HITS-CLIP	23313552
MIRT704822	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT704821	hsa-miR-1262	HITS-CLIP	23313552
MIRT704820	hsa-miR-4701-3p	HITS-CLIP	23313552
MIRT704819	hsa-miR-6736-5p	HITS-CLIP	23313552
MIRT704818	hsa-miR-217	HITS-CLIP	23313552
MIRT704817	hsa-miR-6807-3p	HITS-CLIP	23313552
MIRT704816	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT704815	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT704814	hsa-miR-940	HITS-CLIP	23313552
MIRT704813	hsa-miR-3929	HITS-CLIP	23313552
MIRT704812	hsa-miR-4419b	HITS-CLIP	23313552
MIRT704811	hsa-miR-4478	HITS-CLIP	23313552
MIRT704810	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT704809	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT704807	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT704808	hsa-miR-146a-5p	HITS-CLIP	23313552
MIRT704806	hsa-miR-146b-5p	HITS-CLIP	23313552
MIRT704805	hsa-miR-7153-5p	HITS-CLIP	23313552
MIRT704804	hsa-miR-1827	HITS-CLIP	23313552
MIRT704803	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT704802	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT704800	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT704801	hsa-miR-6076	HITS-CLIP	23313552
MIRT704799	hsa-miR-6797-3p	HITS-CLIP	23313552
MIRT704798	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT704797	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT704796	hsa-miR-665	HITS-CLIP	23313552
MIRT659664	hsa-miR-634	HITS-CLIP	23824327
MIRT659663	hsa-miR-1226-3p	HITS-CLIP	23824327
MIRT659662	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT659661	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT659660	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT659659	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT659658	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT659657	hsa-miR-5096	HITS-CLIP	23824327
MIRT630519	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT630518	hsa-miR-4284	HITS-CLIP	23824327
MIRT630517	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT630516	hsa-miR-4747-5p	HITS-CLIP	23824327
MIRT630515	hsa-miR-5196-5p	HITS-CLIP	23824327
MIRT630514	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT630513	hsa-miR-3122	HITS-CLIP	23824327
MIRT630512	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT630511	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT630510	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT630519	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT630518	hsa-miR-4284	HITS-CLIP	23824327
MIRT630517	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT630516	hsa-miR-4747-5p	HITS-CLIP	23824327
MIRT630515	hsa-miR-5196-5p	HITS-CLIP	23824327
MIRT630514	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT630513	hsa-miR-3122	HITS-CLIP	23824327
MIRT630512	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT630511	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT630510	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT446051	hsa-miR-3133	PAR-CLIP	22100165
MIRT446050	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT183026	hsa-miR-5692a	PAR-CLIP	22100165
MIRT446049	hsa-miR-4635	PAR-CLIP	22100165
MIRT446051	hsa-miR-3133	PAR-CLIP	22100165
MIRT446050	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT183026	hsa-miR-5692a	PAR-CLIP	22100165
MIRT446049	hsa-miR-4635	PAR-CLIP	22100165
MIRT878628	hsa-miR-1	CLIP-seq
MIRT878629	hsa-miR-105	CLIP-seq
MIRT878630	hsa-miR-1193	CLIP-seq
MIRT878631	hsa-miR-1253	CLIP-seq
MIRT878632	hsa-miR-1273e	CLIP-seq
MIRT878633	hsa-miR-130a	CLIP-seq
MIRT878634	hsa-miR-130b	CLIP-seq
MIRT878635	hsa-miR-142-5p	CLIP-seq
MIRT878636	hsa-miR-144	CLIP-seq
MIRT878637	hsa-miR-188-5p	CLIP-seq
MIRT878638	hsa-miR-197	CLIP-seq
MIRT878639	hsa-miR-19a	CLIP-seq
MIRT878640	hsa-miR-19b	CLIP-seq
MIRT878641	hsa-miR-200b	CLIP-seq
MIRT878642	hsa-miR-200c	CLIP-seq
MIRT878643	hsa-miR-204	CLIP-seq
MIRT878644	hsa-miR-206	CLIP-seq
MIRT878645	hsa-miR-211	CLIP-seq
MIRT878646	hsa-miR-216a	CLIP-seq
MIRT878647	hsa-miR-216b	CLIP-seq
MIRT878648	hsa-miR-28-5p	CLIP-seq
MIRT878649	hsa-miR-300	CLIP-seq
MIRT878650	hsa-miR-301a	CLIP-seq
MIRT878651	hsa-miR-301b	CLIP-seq
MIRT878652	hsa-miR-30a	CLIP-seq
MIRT878653	hsa-miR-30b	CLIP-seq
MIRT878654	hsa-miR-30c	CLIP-seq
MIRT878655	hsa-miR-30d	CLIP-seq
MIRT878656	hsa-miR-30e	CLIP-seq
MIRT878657	hsa-miR-3121-3p	CLIP-seq
MIRT878658	hsa-miR-3121-5p	CLIP-seq
MIRT878659	hsa-miR-3125	CLIP-seq
MIRT878660	hsa-miR-3139	CLIP-seq
MIRT878661	hsa-miR-3145-5p	CLIP-seq
MIRT878662	hsa-miR-3147	CLIP-seq
MIRT878663	hsa-miR-3154	CLIP-seq
MIRT878664	hsa-miR-3161	CLIP-seq
MIRT878665	hsa-miR-3180-5p	CLIP-seq
MIRT878666	hsa-miR-323b-3p	CLIP-seq
MIRT878667	hsa-miR-329	CLIP-seq
MIRT878668	hsa-miR-337-3p	CLIP-seq
MIRT878669	hsa-miR-340	CLIP-seq
MIRT878670	hsa-miR-362-3p	CLIP-seq
MIRT878671	hsa-miR-3647-3p	CLIP-seq
MIRT878672	hsa-miR-3653	CLIP-seq
MIRT878673	hsa-miR-3658	CLIP-seq
MIRT878674	hsa-miR-3666	CLIP-seq
MIRT878675	hsa-miR-3671	CLIP-seq
MIRT878676	hsa-miR-3673	CLIP-seq
MIRT878677	hsa-miR-3675-3p	CLIP-seq
MIRT878678	hsa-miR-3688-3p	CLIP-seq
MIRT878679	hsa-miR-374a	CLIP-seq
MIRT878680	hsa-miR-374b	CLIP-seq
MIRT878681	hsa-miR-374c	CLIP-seq
MIRT878682	hsa-miR-381	CLIP-seq
MIRT878683	hsa-miR-3916	CLIP-seq
MIRT878684	hsa-miR-3941	CLIP-seq
MIRT878685	hsa-miR-3945	CLIP-seq
MIRT878686	hsa-miR-3978	CLIP-seq
MIRT878687	hsa-miR-4253	CLIP-seq
MIRT878688	hsa-miR-4261	CLIP-seq
MIRT878689	hsa-miR-4282	CLIP-seq
MIRT878690	hsa-miR-429	CLIP-seq
MIRT878691	hsa-miR-4295	CLIP-seq
MIRT878692	hsa-miR-4434	CLIP-seq
MIRT878693	hsa-miR-4464	CLIP-seq
MIRT878694	hsa-miR-4477b	CLIP-seq
MIRT878695	hsa-miR-4495	CLIP-seq
MIRT878696	hsa-miR-4496	CLIP-seq
MIRT878697	hsa-miR-4516	CLIP-seq
MIRT878698	hsa-miR-452	CLIP-seq
MIRT878699	hsa-miR-4531	CLIP-seq
MIRT878700	hsa-miR-454	CLIP-seq
MIRT878701	hsa-miR-4639-5p	CLIP-seq
MIRT878702	hsa-miR-4645-3p	CLIP-seq
MIRT878703	hsa-miR-4666-3p	CLIP-seq
MIRT878704	hsa-miR-4671-3p	CLIP-seq
MIRT878705	hsa-miR-4676-3p	CLIP-seq
MIRT878706	hsa-miR-4694-3p	CLIP-seq
MIRT878707	hsa-miR-4698	CLIP-seq
MIRT878708	hsa-miR-4701-5p	CLIP-seq
MIRT878709	hsa-miR-4717-5p	CLIP-seq
MIRT878710	hsa-miR-4748	CLIP-seq
MIRT878711	hsa-miR-4760-3p	CLIP-seq
MIRT878712	hsa-miR-4764-5p	CLIP-seq
MIRT878713	hsa-miR-4789-5p	CLIP-seq
MIRT878714	hsa-miR-4799-5p	CLIP-seq
MIRT878715	hsa-miR-4802-5p	CLIP-seq
MIRT878716	hsa-miR-488	CLIP-seq
MIRT878717	hsa-miR-5095	CLIP-seq
MIRT878718	hsa-miR-513a-3p	CLIP-seq
MIRT878719	hsa-miR-518a-5p	CLIP-seq
MIRT878720	hsa-miR-520a-5p	CLIP-seq
MIRT878721	hsa-miR-522	CLIP-seq
MIRT878722	hsa-miR-525-5p	CLIP-seq
MIRT878723	hsa-miR-526b	CLIP-seq
MIRT878724	hsa-miR-527	CLIP-seq
MIRT878725	hsa-miR-548ae	CLIP-seq
MIRT878726	hsa-miR-548aj	CLIP-seq
MIRT878727	hsa-miR-548am	CLIP-seq
MIRT878728	hsa-miR-548x	CLIP-seq
MIRT878729	hsa-miR-552	CLIP-seq
MIRT878730	hsa-miR-561	CLIP-seq
MIRT878731	hsa-miR-577	CLIP-seq
MIRT878732	hsa-miR-587	CLIP-seq
MIRT878733	hsa-miR-588	CLIP-seq
MIRT878734	hsa-miR-601	CLIP-seq
MIRT878735	hsa-miR-603	CLIP-seq
MIRT878736	hsa-miR-607	CLIP-seq
MIRT878737	hsa-miR-613	CLIP-seq
MIRT878738	hsa-miR-624	CLIP-seq
MIRT878739	hsa-miR-627	CLIP-seq
MIRT878740	hsa-miR-655	CLIP-seq
MIRT878741	hsa-miR-676	CLIP-seq
MIRT878742	hsa-miR-708	CLIP-seq
MIRT878743	hsa-miR-765	CLIP-seq
MIRT878744	hsa-miR-885-5p	CLIP-seq
MIRT878745	hsa-miR-924	CLIP-seq
MIRT878746	hsa-miR-938	CLIP-seq
MIRT1546359	hsa-miR-1298	CLIP-seq
MIRT1546360	hsa-miR-664	CLIP-seq
MIRT1960472	hsa-miR-1207-3p	CLIP-seq
MIRT1960473	hsa-miR-1297	CLIP-seq
MIRT1960474	hsa-miR-146a	CLIP-seq
MIRT1960475	hsa-miR-181a	CLIP-seq
MIRT1960476	hsa-miR-181b	CLIP-seq
MIRT1960477	hsa-miR-181c	CLIP-seq
MIRT1960478	hsa-miR-181d	CLIP-seq
MIRT878639	hsa-miR-19a	CLIP-seq
MIRT878640	hsa-miR-19b	CLIP-seq
MIRT1960479	hsa-miR-2052	CLIP-seq
MIRT1960480	hsa-miR-26a	CLIP-seq
MIRT1960481	hsa-miR-26b	CLIP-seq
MIRT878657	hsa-miR-3121-3p	CLIP-seq
MIRT1960482	hsa-miR-3124-3p	CLIP-seq
MIRT878661	hsa-miR-3145-5p	CLIP-seq
MIRT1960483	hsa-miR-3163	CLIP-seq
MIRT878665	hsa-miR-3180-5p	CLIP-seq
MIRT1960484	hsa-miR-33a	CLIP-seq
MIRT1960485	hsa-miR-33b	CLIP-seq
MIRT878669	hsa-miR-340	CLIP-seq
MIRT1960486	hsa-miR-3613-5p	CLIP-seq
MIRT878675	hsa-miR-3671	CLIP-seq
MIRT878681	hsa-miR-374c	CLIP-seq
MIRT1960487	hsa-miR-380	CLIP-seq
MIRT1960488	hsa-miR-411	CLIP-seq
MIRT1960489	hsa-miR-4251	CLIP-seq
MIRT1960490	hsa-miR-4252	CLIP-seq
MIRT1960491	hsa-miR-4262	CLIP-seq
MIRT878689	hsa-miR-4282	CLIP-seq
MIRT878693	hsa-miR-4464	CLIP-seq
MIRT1960492	hsa-miR-4465	CLIP-seq
MIRT1960493	hsa-miR-4477a	CLIP-seq
MIRT1960494	hsa-miR-4511	CLIP-seq
MIRT1960495	hsa-miR-4691-5p	CLIP-seq
MIRT878707	hsa-miR-4698	CLIP-seq
MIRT1960496	hsa-miR-4704-3p	CLIP-seq
MIRT1960497	hsa-miR-4729	CLIP-seq
MIRT1960498	hsa-miR-4742-3p	CLIP-seq
MIRT878710	hsa-miR-4748	CLIP-seq
MIRT878712	hsa-miR-4764-5p	CLIP-seq
MIRT1960499	hsa-miR-4775	CLIP-seq
MIRT878718	hsa-miR-513a-3p	CLIP-seq
MIRT878720	hsa-miR-520a-5p	CLIP-seq
MIRT878722	hsa-miR-525-5p	CLIP-seq
MIRT1960500	hsa-miR-548c-3p	CLIP-seq
MIRT1960501	hsa-miR-548g	CLIP-seq
MIRT878730	hsa-miR-561	CLIP-seq
MIRT878731	hsa-miR-577	CLIP-seq
MIRT1960502	hsa-miR-589	CLIP-seq
MIRT1960503	hsa-miR-590-3p	CLIP-seq
MIRT878736	hsa-miR-607	CLIP-seq
MIRT878740	hsa-miR-655	CLIP-seq
MIRT2197236	hsa-miR-124	CLIP-seq
MIRT1546359	hsa-miR-1298	CLIP-seq
MIRT878639	hsa-miR-19a	CLIP-seq
MIRT878640	hsa-miR-19b	CLIP-seq
MIRT2197237	hsa-miR-224	CLIP-seq
MIRT878661	hsa-miR-3145-5p	CLIP-seq
MIRT2197238	hsa-miR-3152-3p	CLIP-seq
MIRT878663	hsa-miR-3154	CLIP-seq
MIRT2197239	hsa-miR-3171	CLIP-seq
MIRT2197240	hsa-miR-3200-3p	CLIP-seq
MIRT2197241	hsa-miR-361-3p	CLIP-seq
MIRT2197242	hsa-miR-3614-5p	CLIP-seq
MIRT2197243	hsa-miR-3679-3p	CLIP-seq
MIRT878681	hsa-miR-374c	CLIP-seq
MIRT2197244	hsa-miR-3923	CLIP-seq
MIRT2197245	hsa-miR-4307	CLIP-seq
MIRT2197246	hsa-miR-4501	CLIP-seq
MIRT2197247	hsa-miR-455-5p	CLIP-seq
MIRT2197248	hsa-miR-4672	CLIP-seq
MIRT878706	hsa-miR-4694-3p	CLIP-seq
MIRT2197249	hsa-miR-4708-3p	CLIP-seq
MIRT878715	hsa-miR-4802-5p	CLIP-seq
MIRT2197250	hsa-miR-506	CLIP-seq
MIRT878718	hsa-miR-513a-3p	CLIP-seq
MIRT878721	hsa-miR-522	CLIP-seq
MIRT2197251	hsa-miR-555	CLIP-seq
MIRT2197252	hsa-miR-579	CLIP-seq
MIRT878732	hsa-miR-587	CLIP-seq
MIRT878740	hsa-miR-655	CLIP-seq
MIRT1546360	hsa-miR-664	CLIP-seq
MIRT878744	hsa-miR-885-5p	CLIP-seq
MIRT2197253	hsa-miR-892a	CLIP-seq
MIRT1546359	hsa-miR-1298	CLIP-seq
MIRT878665	hsa-miR-3180-5p	CLIP-seq
MIRT2385823	hsa-miR-339-5p	CLIP-seq
MIRT2385824	hsa-miR-3686	CLIP-seq
MIRT2385825	hsa-miR-371-5p	CLIP-seq
MIRT2385826	hsa-miR-3938	CLIP-seq
MIRT2385827	hsa-miR-4778-5p	CLIP-seq
MIRT878720	hsa-miR-520a-5p	CLIP-seq
MIRT878722	hsa-miR-525-5p	CLIP-seq
MIRT2385828	hsa-miR-670	CLIP-seq
MIRT878628	hsa-miR-1	CLIP-seq
MIRT2500493	hsa-miR-1248	CLIP-seq
MIRT878631	hsa-miR-1253	CLIP-seq
MIRT2500494	hsa-miR-127-5p	CLIP-seq
MIRT1546359	hsa-miR-1298	CLIP-seq
MIRT2500495	hsa-miR-1305	CLIP-seq
MIRT2500496	hsa-miR-149	CLIP-seq
MIRT2500497	hsa-miR-150	CLIP-seq
MIRT878644	hsa-miR-206	CLIP-seq
MIRT2500498	hsa-miR-3064-5p	CLIP-seq
MIRT2500499	hsa-miR-3074-5p	CLIP-seq
MIRT878657	hsa-miR-3121-3p	CLIP-seq
MIRT878659	hsa-miR-3125	CLIP-seq
MIRT2500500	hsa-miR-3136-5p	CLIP-seq
MIRT878662	hsa-miR-3147	CLIP-seq
MIRT878664	hsa-miR-3161	CLIP-seq
MIRT1960483	hsa-miR-3163	CLIP-seq
MIRT2500501	hsa-miR-320a	CLIP-seq
MIRT2500502	hsa-miR-320b	CLIP-seq
MIRT2500503	hsa-miR-320c	CLIP-seq
MIRT2500504	hsa-miR-320d	CLIP-seq
MIRT2500505	hsa-miR-323-3p	CLIP-seq
MIRT2500506	hsa-miR-330-3p	CLIP-seq
MIRT878668	hsa-miR-337-3p	CLIP-seq
MIRT878669	hsa-miR-340	CLIP-seq
MIRT2197241	hsa-miR-361-3p	CLIP-seq
MIRT878671	hsa-miR-3647-3p	CLIP-seq
MIRT2500507	hsa-miR-3664-5p	CLIP-seq
MIRT2500508	hsa-miR-3667-3p	CLIP-seq
MIRT878675	hsa-miR-3671	CLIP-seq
MIRT878676	hsa-miR-3673	CLIP-seq
MIRT2197243	hsa-miR-3679-3p	CLIP-seq
MIRT878683	hsa-miR-3916	CLIP-seq
MIRT878685	hsa-miR-3945	CLIP-seq
MIRT2500509	hsa-miR-3974	CLIP-seq
MIRT1960489	hsa-miR-4251	CLIP-seq
MIRT878687	hsa-miR-4253	CLIP-seq
MIRT878689	hsa-miR-4282	CLIP-seq
MIRT2500510	hsa-miR-4326	CLIP-seq
MIRT2500511	hsa-miR-4422	CLIP-seq
MIRT2500512	hsa-miR-4427	CLIP-seq
MIRT2500513	hsa-miR-4429	CLIP-seq
MIRT2500514	hsa-miR-4439	CLIP-seq
MIRT2500515	hsa-miR-4513	CLIP-seq
MIRT878698	hsa-miR-452	CLIP-seq
MIRT2500516	hsa-miR-4535	CLIP-seq
MIRT2500517	hsa-miR-4666-5p	CLIP-seq
MIRT878705	hsa-miR-4676-3p	CLIP-seq
MIRT2500518	hsa-miR-4677-3p	CLIP-seq
MIRT2500519	hsa-miR-4679	CLIP-seq
MIRT2500520	hsa-miR-4680-3p	CLIP-seq
MIRT2500521	hsa-miR-4693-5p	CLIP-seq
MIRT878707	hsa-miR-4698	CLIP-seq
MIRT2500522	hsa-miR-4699-3p	CLIP-seq
MIRT2500523	hsa-miR-4699-5p	CLIP-seq
MIRT2500524	hsa-miR-4714-5p	CLIP-seq
MIRT878711	hsa-miR-4760-3p	CLIP-seq
MIRT2500525	hsa-miR-4778-3p	CLIP-seq
MIRT2500526	hsa-miR-4794	CLIP-seq
MIRT2500527	hsa-miR-4802-3p	CLIP-seq
MIRT2500528	hsa-miR-487a	CLIP-seq
MIRT2500529	hsa-miR-492	CLIP-seq
MIRT2500530	hsa-miR-495	CLIP-seq
MIRT2500531	hsa-miR-500a	CLIP-seq
MIRT2500532	hsa-miR-502-5p	CLIP-seq
MIRT878717	hsa-miR-5095	CLIP-seq
MIRT878723	hsa-miR-526b	CLIP-seq
MIRT2500533	hsa-miR-550b	CLIP-seq
MIRT878729	hsa-miR-552	CLIP-seq
MIRT2197252	hsa-miR-579	CLIP-seq
MIRT2500534	hsa-miR-583	CLIP-seq
MIRT878737	hsa-miR-613	CLIP-seq
MIRT1546360	hsa-miR-664	CLIP-seq
MIRT878741	hsa-miR-676	CLIP-seq
MIRT2500535	hsa-miR-943	CLIP-seq
MIRT2500493	hsa-miR-1248	CLIP-seq
MIRT878631	hsa-miR-1253	CLIP-seq
MIRT2500494	hsa-miR-127-5p	CLIP-seq
MIRT878657	hsa-miR-3121-3p	CLIP-seq
MIRT2500500	hsa-miR-3136-5p	CLIP-seq
MIRT1960483	hsa-miR-3163	CLIP-seq
MIRT2500506	hsa-miR-330-3p	CLIP-seq
MIRT878668	hsa-miR-337-3p	CLIP-seq
MIRT878669	hsa-miR-340	CLIP-seq
MIRT2197241	hsa-miR-361-3p	CLIP-seq
MIRT2500507	hsa-miR-3664-5p	CLIP-seq
MIRT878675	hsa-miR-3671	CLIP-seq
MIRT2197243	hsa-miR-3679-3p	CLIP-seq
MIRT2500509	hsa-miR-3974	CLIP-seq
MIRT1960489	hsa-miR-4251	CLIP-seq
MIRT2500510	hsa-miR-4326	CLIP-seq
MIRT2500511	hsa-miR-4422	CLIP-seq
MIRT2500514	hsa-miR-4439	CLIP-seq
MIRT2500515	hsa-miR-4513	CLIP-seq
MIRT878698	hsa-miR-452	CLIP-seq
MIRT878705	hsa-miR-4676-3p	CLIP-seq
MIRT2500518	hsa-miR-4677-3p	CLIP-seq
MIRT2500519	hsa-miR-4679	CLIP-seq
MIRT2500521	hsa-miR-4693-5p	CLIP-seq
MIRT2500524	hsa-miR-4714-5p	CLIP-seq
MIRT2500525	hsa-miR-4778-3p	CLIP-seq
MIRT2500528	hsa-miR-487a	CLIP-seq
MIRT2500532	hsa-miR-502-5p	CLIP-seq
MIRT878717	hsa-miR-5095	CLIP-seq
MIRT878723	hsa-miR-526b	CLIP-seq
MIRT2500533	hsa-miR-550b	CLIP-seq
MIRT878729	hsa-miR-552	CLIP-seq
MIRT2197252	hsa-miR-579	CLIP-seq
MIRT878741	hsa-miR-676	CLIP-seq
MIRT2500535	hsa-miR-943	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
WT1	Repression	24257751

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	18987311
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000993	Function	RNA polymerase II complex binding	IBA
GO:0000993	Function	RNA polymerase II complex binding	IDA	15923622
GO:0001558	Process	Regulation of cell growth	IEA
GO:0001711	Process	Endodermal cell fate commitment	IEA
GO:0001711	Process	Endodermal cell fate commitment	ISS
GO:0005515	Function	Protein binding	IPI	15923622, 16024656, 16630820, 17113272, 19136632, 19410543, 20178742, 20541477, 21900206, 24981860, 25416956, 25910212, 26496610, 26659056, 26742426, 28514442, 29774127, 31515488, 32296183, 33961781, 35512704
GO:0005634	Component	Nucleus	IDA	15923622
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006368	Process	Transcription elongation by RNA polymerase II	IDA	20178742
GO:0006368	Process	Transcription elongation by RNA polymerase II	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16989776
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016593	Component	Cdc73/Paf1 complex	IBA
GO:0016593	Component	Cdc73/Paf1 complex	IDA	16307923, 18987311, 20178742
GO:0016593	Component	Cdc73/Paf1 complex	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0019827	Process	Stem cell population maintenance	ISS
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IDA	16630820
GO:0031124	Process	MRNA 3'-end processing	IMP	21329879
GO:0031442	Process	Positive regulation of mRNA 3'-end processing	IMP	19136632
GO:0031648	Process	Protein destabilization	IMP	18987311
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IDA	20541477
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16307923
GO:0048147	Process	Negative regulation of fibroblast proliferation	IMP	18987311
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IMP	18987311
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	ISS
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	IMP	15923622
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IDA	16989776

Other IDs

• MIM: 607393
• HGNC: 16783
• e!Ensembl: ENSG00000134371

Protein

• UniProt ID: Q6P1J9
• Protein name: Parafibromin (Cell division cycle protein 73 homolog) (Hyperparathyroidism 2 protein)
• Protein function: Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has mult
• PDB: 5YDE, 5YDF, 6TED, 7OOP, 7OPC, 7OPD, 7UNC, 7UND, 8A3Y, 9EGX, 9EGY, 9EGZ, 9EH0, 9EH2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16050	CDC73_N	1 → 297	Paf1 complex subunit CDC73 N-terminal	Family
  PF05179	CDC73_C	356 → 521	RNA pol II accessory factor, Cdc73 family, C-terminal	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in adrenal and parathyroid glands, kidney and heart. {ECO:0000269|PubMed:15580289}.
• Sequence:

  MADVLSVLRQYNIQKKEIVVKGDEVIFGEFSWPKNVKTNYVVWGTGKEGQPREYYTLDSI
  LFLLNNVHLSHPVYVRRAATENIPVVRRPDRKDLLGYLNGEASTSASIDRSAPLEIGLQR
  STQVKRAADEVLAEAKKPRIEDEECVRLDKERLAARLEGHKEGIVQTEQIRSLSEAMSVE
  KIAAIKAKIMAKKRSTIKTDLDDDITALKQRSFVDAEVDVTRDIVSRERVWRTRTTILQS
  TGKNFSKNIFAILQSVKAREEGRAPEQRPAPNAAPVDPTLRTKQPIPAAYNRYDQERFKG
  KEETEGFKIDTMGTYHGMTLKSVTEGASARKTQTPAAQPVPRPVSQARPPPNQKKGSRTP
  IIIIPAATTSLITMLNAKDLLQDLKFVPSDEKKKQGCQRENETLIQRRKDQMQPGGTAIS
  VTVPYRVVDQPLKLMPQDWDRVVAVFVQGPAWQFKGWPWLLPDGSPVDIFAKIKAFHLKY
  DEVRLDPNVQKWDVTVLELSYHKRHLDRPVFLRFWETLDRYMVKHKSHLRF

• Sequence length: 531

Pathways

Reactome:

Formation of RNA Pol II elongation complex
Formation of the beta-catenin:TCF transactivating complex
Hedgehog 'on' state
RNA Polymerase II Pre-transcription Events
RNA Polymerase II Transcription Elongation
E3 ubiquitin ligases ubiquitinate target proteins

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CDC73-related disorder	Pathogenic	rs760591174	RCV004529412	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic parathyroid adenoma	Pathogenic	rs587776557	RCV000003432	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs1558280170	RCV001310104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2103121721, rs2103130589, rs1677688362, rs2103123828, rs2103178097, rs2102058252, rs2527493922, rs2527317468, rs2527341649, rs2527289344, rs121434262, rs587776558, rs2527500780, rs587776559, rs2103117916, rs760591174, rs2527455776, rs886041158, rs1678016165, rs1553288362, rs2527324739, rs2527440253, rs2102038475, rs2527440254, rs2527500853, rs1060500009, rs1553278844, rs1572150469, rs770439843, rs794727303, rs1558280170, rs1675915231	RCV002329408 RCV002421192 RCV004946930 RCV002334977 RCV003164059 RCV002332111 RCV002364426 RCV002328620 RCV002449930 RCV002405646 RCV002426483 RCV002381237 RCV002383692 RCV002457907 RCV002435353 RCV002365215 RCV003171454 RCV004021055 RCV003288383 RCV003288386 RCV003338970 RCV003338972 RCV003341621 RCV004364913 RCV004517607 RCV005532653 RCV002350233 RCV002458429 RCV002363129 RCV001015315 RCV005306243 RCV004601428	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperparathyroidism 1	Pathogenic; Likely pathogenic	rs2103121721, rs2103130589, rs2103126261, rs80356649, rs121434264, rs587776558, rs760591174, rs2527324739, rs2527324275, rs1057519419, rs770439843, rs1558280170	RCV005005923 RCV003463051 RCV003464317 RCV000664206 RCV000003431 RCV000003435 RCV002500813 RCV004572940 RCV004575501 RCV000417061 RCV002507424 RCV001198546	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperparathyroidism 2 with jaw tumors	Pathogenic; Likely pathogenic	rs2103121721, rs760591174, rs2103130589, rs1677688362, rs2527324463, rs28942098, rs121434262, rs80356649, rs587776558, rs587776559, rs886041158, rs2103111785, rs80356650, rs770439843, rs1558280170	RCV005005923 RCV002290707 RCV005005963 RCV002290811 RCV002282967 RCV000003424 RCV000003425 RCV000003427 RCV002496245 RCV000003440 RCV002500813 RCV005645062 RCV003494052 RCV002260511 RCV002507424 RCV005012486	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple endocrine neoplasia, type 1	Likely pathogenic	rs2527281270	RCV003233053	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ossifying fibroma of the jaw	Pathogenic	rs1057519385, rs1057519384	RCV000417076 RCV000417074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parathyroid adenoma, somatic	Likely pathogenic; Pathogenic	rs587776558	RCV000003436	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parathyroid carcinoma	Likely pathogenic; Pathogenic	rs2102038469, rs2103111548, rs2103121496, rs2103121721, rs760591174, rs2103132220, rs2103130589, rs1677688362, rs2103126265, rs2103132218, rs2103132250, rs2103117753, rs771907995, rs2103114004, rs2103123824, rs2103121472, rs587776558, rs2103121703, rs2103123807, rs2103126261, rs2103123828, rs2102061886, rs2102061912, rs2103178097, rs2102058495, rs121434262, rs80356649, rs121434263, rs121434264, rs121434265, rs1572150584, rs587776560, rs587776561, rs2527455766, rs2527281416, rs2527324301, rs2103114052, rs2527281026, rs1057519419, rs2102061867, rs2527324879, rs2527493724, rs886041158, rs886041278, rs2103111608, rs2527440254, rs2527280897, rs2103117989, rs2527311881, rs2527281261, rs2527280954, rs2527280793, rs779923532, rs2527281408, rs2527280678, rs2527493958, rs80356650, rs1060500009, rs1060500015, rs1060500020, rs1060500019, rs1060500012, rs794727303, rs1131691698, rs1131691732, rs1553279088, rs1553288362, rs1553278844, rs1553279085, rs1558276082, rs1558276054, rs1558276157, rs1572152420, rs1572150469, rs770439843, rs1572154885, rs1572215344, rs1572142597, rs1558280170, rs1677132309, rs1675462891, rs1677757559, rs1675465013, rs1675541893, rs1675915231	RCV001379928 RCV001381971 RCV001384828 RCV001388080 RCV001390792 RCV001388623 RCV001882642 RCV002014473 RCV001876593 RCV001941739 RCV001930559 RCV001964199 RCV001908472 RCV001994678 RCV001939630 RCV001951166 RCV001962988 RCV001972723 RCV001949344 RCV001949345 RCV001959200 RCV001951305 RCV001935303 RCV001887696 RCV002005159 RCV002512708 RCV000003428 RCV000003430 RCV001851616 RCV000003433 RCV000003434 RCV001054064 RCV000003439 RCV000003441 RCV000003442 RCV002609052 RCV002833154 RCV002846307 RCV002857235 RCV002884968 RCV002863427 RCV003027188 RCV003024998 RCV003054898 RCV000226610 RCV001203213 RCV001381894 RCV003501117 RCV003500872 RCV003501680 RCV003501681 RCV003501682 RCV003501976 RCV003500182 RCV003500230 RCV003500471 RCV003607826 RCV003607937 RCV003607948 RCV000020885 RCV000458654 RCV000472304 RCV000463923 RCV000477581 RCV000473101 RCV000465715 RCV001060944 RCV001379679 RCV000526998 RCV000558035 RCV000550505 RCV000638120 RCV000702833 RCV000706820 RCV000687778 RCV000781204 RCV000795507 RCV000815729 RCV000817698 RCV000815039 RCV000986475 RCV003607377 RCV001049577 RCV001047698 RCV001209295 RCV001207874 RCV001241910 RCV001245622 RCV001880200	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parathyroid gland adenoma	Pathogenic	rs760591174	RCV000003438	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocrine neoplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED HYPERPARATHYROIDISM	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERPARATHYROIDISM 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM-JAW TUMOR SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated Hyperparathyroidism	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARATHYROID GLAND CARCINOMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARATHYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	21692036		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10395244, 15475453, 15492263, 15956079, 17468190, 17639062, 18063086, 19058032, 19092296, 20473645, 21315421, 21717519, 22987117, 23029104, 23029479, 24823466, 27490759, 30739106, 30923346, 9625369		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	20473645, 22395475, 27490759		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	26409451		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	24823466	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	37807045	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26832176, 35551175	Associate	★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12960210, 17923126, 23361235, 23435613, 32780442, 36611251, 37121965	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12960210, 14585940, 14694525, 15731573, 21315421, 21692036, 23029479, 26124004, 27490759, 30923346		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	30452964, 36153594	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of Endocrine Gland	Endocrine Gland cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21692036		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26409451	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23361235, 25970683	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26409451		★☆☆☆☆ Found in Text Mining only
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal syndrome	Pubtator	37995913	Associate	★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	23361235		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	18338208		★☆☆☆☆ Found in Text Mining only
Clear cell papillary renal cell carcinoma	Papillary Renal Carcinoma	BEFREE	23060304, 25970683		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23991985		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	23991985	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21315421, 21692036, 23991985, 28223542		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23991985	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23361235		★☆☆☆☆ Found in Text Mining only
Cortical adenoma of kidney	Cortical Adenoma Of Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocrine Gland Neoplasms	Endocrine Gland Neoplasms	BEFREE	7717405		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30679932		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	GWASCAT_DG	28333195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial benign hypercalcemia	Hypocalciuric hypercalcemia	BEFREE	28874394		★☆☆☆☆ Found in Text Mining only
Familial Isolated Hyperparathyroidism	Hyperparathyroidism	BEFREE	12213668, 12699448, 14715834, 14985373, 15531515, 15580289, 16061557, 16487440, 16525030, 16720667, 16817812, 16995822, 17314275, 18063086, 18987311, 19169472, 19474519, 20833329, 21790700, 21837707, 21985978, 23293331, 24121387, 24823466, 28774260, 29036195, 30848815, 31486992, 7903311, 9626148		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Isolated Hyperparathyroidism	Hyperparathyroidism	ORPHANET_DG	15531515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated hyperparathyroidism	Hyperparathyroidism	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Isolated Hyperparathyroidism	Hyperparathyroidism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
fibroma	Fibroma	BEFREE	9625369		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	18080135	Inhibit	★☆☆☆☆ Found in Text Mining only
Generalized osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Genitourinary Neoplasms	Genitourinary Neoplasms	BEFREE	31493194		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	26124004		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	26409451	Inhibit	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	30452964	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	30799315		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	17130827, 23361235		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	LHGDN	17138574		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	23293331, 7903311		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	22369086		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	22369086	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	14585940, 16995822, 17065424, 28394026	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperparathyroidism	Hyperparathyroidism	LHGDN	14715834, 14985373, 14985403, 15046050, 15046094, 15046098, 15046102, 15046105, 15046107, 15046109, 18436011		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperparathyroidism	Hyperparathyroidism	BEFREE	15579037, 15580289, 16487440, 16989776, 17599057, 18063086, 19148484, 19169472, 19350316, 21167377, 21324824, 21652691, 21790700, 23029479, 23242522, 23757631, 24402736, 25113791, 25511968, 26121439, 26163537, 26650250, 28394026, 28774260, 28874394, 29142233, 29692167, 9626148, 9736402		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperparathyroidism	Hyperparathyroidism	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERPARATHYROIDISM 1	Hyperparathyroidism	UNIPROT_DG	12434154, 12960210, 15632063, 16487440, 18755853		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperparathyroidism 1	Hyperparathyroidism	Pubtator	12960210, 14985373, 16061557, 16995822, 18987311, 22187299, 24121387, 24823466, 29036195	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERPARATHYROIDISM 1	Hyperparathyroidism	GENOMICS_ENGLAND_DG	28740527		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERPARATHYROIDISM 1	Hyperparathyroidism	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERPARATHYROIDISM 1	Hyperparathyroidism	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperparathyroidism 2	Hyperparathyroidism	Pubtator	12960210, 14585940, 15606373, 16061557, 18987311, 19906718, 21360064, 24121387, 24340015, 24823466, 24842573, 25444225, 25959515, 29040582, 29142233, 29217931, 29225260, 29324469, 29739732, 30452964, 36153594, 37339334, 7717405, 9973288	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism 2	Hyperparathyroidism	Pubtator	23361235	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	16995822, 17065424, 19092296, 24121387, 24340015, 24823466, 25959515, 28394026, 29040582, 29408534, 32590342, 36777354, 37339334, 37465121, 39620181	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	14585940, 15531515, 16525030, 17065424, 17639062, 18338208, 19092296, 19474519, 21790700, 23293331, 24340015, 25959515, 26121439, 26995009, 28384511, 29040582, 30739106, 31486992		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	LHGDN	16061557		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	18338208		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	BEFREE	12434154, 14585940, 14715834, 14985373, 15070940, 15475453, 15531515, 15579037, 15580289, 15613436, 15731573, 16061557, 16116486, 16458039, 16487440, 16728578, 16817812, 16989776, 17130827, 17314275, 18212049, 18684024, 18755853, 18987311, 18996796, 19058032, 19332451, 19474519, 19522828, 19529956, 19926710, 20026646, 20052758, 20304979, 20541447, 20833339, 21167377, 21315421, 21324824, 21360064, 21652691, 21692036, 21790700, 21837707, 22297294, 22454399, 23293331, 23435613, 23757631, 23991985, 24121387, 24402736, 24823466, 24889687, 25113791, 25444225, 25959515, 26409451, 26995009, 28774260, 28881068, 29040582, 29142233, 29324469, 30452964, 30551989, 31085770, 31493194, 7717405, 8954016, 9973288		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	UNIPROT_DG	12434154, 15613436, 16487440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	ORPHANET_DG	12434154		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	CLINGEN_DG	12434154, 15475453, 16931959, 24340015, 28288139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism-jaw tumor syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	GENOMICS_ENGLAND_DG	2123361, 28740527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperplasia	Hyperplasia	Pubtator	19107770	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	16430712, 28874394		★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	23242522		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	37807045	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	17130827		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	25970683, 37339334	Associate	★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	26742426		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28945229		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23900238, 29774127		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26124004	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30679932		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26124004		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26409451		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16211407		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12960210, 16720667, 16995822, 17468190, 17555500, 18338208, 19017757, 20473645, 20541447, 21360064, 22297294, 26163537, 26409451, 28223542, 29324469, 29621547, 30455668, 30923346		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	10395244, 8954016		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	10634381, 17639062, 19474519, 20833329, 20833339, 2123361, 22297294, 24121387, 29036195, 9626148		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	22369086		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	22369086	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12434154, 12960210, 15492263, 15580289, 15606373, 15719375, 15923622, 16116486, 16458039, 16487440, 16728578, 16989776, 16995822, 17065424, 17130827, 17314275, 17468190, 17599057, 18755853, 19017757, 19041002, 19058032, 19169472, 19332451, 19522828, 19529956, 20026646, 20052758, 20304979, 20473645, 20480190, 20833339, 21315421, 21454239, 21652691, 21790700, 21837707, 22297294, 22751344, 22987117, 23029104, 23029479, 23060304, 23361235, 23616356, 23652676, 24257751, 24340015, 25113791, 25511968, 26409451, 27306766, 28501573, 29040582, 29142233, 29324469, 29621547, 30452964, 30455668, 30799315, 30865538, 31085770, 9626148, 9736402		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	16116486, 24402736		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	17130827		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	37807045	Associate	★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ossifying fibroma of the jaw	Ossifying fibroma of the jaw	BEFREE	29040582		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ossifying fibroma of the jaw	Ossifying fibroma of the jaw	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23453027	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26409451	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30485824	Associate	★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	23361235		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	31031188		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	23361235		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	23242522		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	12434154, 15580289, 15956079, 16458039, 16728578, 18755853, 19041002, 20473645, 21790700, 23029479, 23293331, 24121387, 24402736, 28881068, 29040582, 30799315, 30926677		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma, Familial	Parathyroid Adenoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid carcinoma	Parathyroid carcinoma	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	CLINVAR_DG	12434154, 14715834, 17314275, 20052758, 23293331, 25444225		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	12960210, 14585940, 15475453, 15492263, 15531515, 15580289, 15719375, 15731573, 15956079, 16116486, 16357559, 16720667, 16728578, 17468190, 17555500, 18217513, 18338208, 18436011, 18684024, 19017757, 19041002, 19058032, 19148484, 19332451, 19350316, 19373510, 19522828, 19926710, 20026646, 20052758, 20473645, 21167377, 21240254, 21360064, 21521290, 21717519, 21732217, 21790700, 21985978, 22297294, 22987117, 23029104, 23029479, 23616356, 23652676, 24402736, 24823466, 24889687, 25113791, 25387265, 26650250, 27001435, 27490759, 27544721, 28157158, 28362521, 28774260, 28881068, 28949121, 29040582, 29692167, 30361844, 30362515, 30551989, 30641523, 30799315, 30865538, 30905030, 30923346, 30926677, 31734935		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	ORPHANET_DG	14585940, 15719375		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	30926677		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	12434154, 15492263, 15531515, 15580289, 15613436, 15956079, 16487440, 16720667, 17468190, 17639062, 18217513, 18338208, 18436011, 19017757, 19092296, 20026646, 20052758, 21167377, 21360064, 21732217, 21790700, 22395475, 22987117, 23029104, 23029479, 29136674, 29324469, 30799315, 30923346, 8981014		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	12960210, 14585940, 16995822, 18080135, 18987311, 19092296, 19906718, 20614331, 21240254, 21360064, 21521290, 22454399, 23029104, 23029479, 24121387, 24340015, 24823466, 28352668, 29040582, 29324469, 29408534, 29739732, 30373905, 30567092, 30799315, 30923346, 32590342, 32761341, 32780442, 36284286, 36611251, 36777354, 37121965, 37339334, 38237426, 39620181	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parathyroid Neoplasms	Parathyroid Neoplasms	LHGDN	15956079, 16116486, 18217513, 18436011, 19058032, 19081034		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	19107770, 19136632, 23435613, 26658808, 30799315	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parathyroid Neoplasms	Parathyroid Neoplasms	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peptic Ulcer	Peptic Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A	Zellweger Syndrome	BEFREE	20480190		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16211407		★☆☆☆☆ Found in Text Mining only
Recurrent pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17130827, 23060304		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	31734935		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26124004		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24257751	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26124004	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18080135, 23991985, 26124004	Inhibit	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Gland Oncocytic Adenoma	Thyroid Gland Oncocytic Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	20480190		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	30799315		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35551175	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	15606373	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	23242522		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	40340749	Associate	★☆☆☆☆ Found in Text Mining only