CUL4B (cullin 4B)

Gene

• Entrez ID: 8450
• Gene name: Cullin 4B
• Gene symbol: CUL4B
• Synonyms (NCBI Gene): CUL-4B, MRXHF2, MRXS15, MRXSC, SFM2
• Chromosome: X
• Chromosome location: Xq24
• Summary: This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434615	G>A	Pathogenic	Coding sequence variant, missense variant
rs121434616	G>A	Pathogenic	Coding sequence variant, stop gained
rs754330779	GGAGGAGGA>-,GGA,GGAGGA,GGAGGAGGAGGA,GGAGGAGGAGGAGGA	Likely-pathogenic, likely-benign	Genic upstream transcript variant, inframe deletion, coding sequence variant, inframe insertion, upstream transcript variant
rs766506778	C>T	Likely-pathogenic	Splice acceptor variant
rs786200913	T>C	Pathogenic	Splice acceptor variant
rs797044862	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs869320682	G>A	Pathogenic	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs878853152	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039718	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs905353542	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057518039	T>C	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs1057518598	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057519396	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794800	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307760	AATAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1260356990	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1556173896	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556200443	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1556206910	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556213001	C>A	Pathogenic	Stop gained, coding sequence variant
rs1556216330	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1556220623	G>A	Pathogenic	Stop gained, coding sequence variant
rs1569385075	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1569389364	TTAC>-	Likely-pathogenic	Splice donor variant, intron variant
rs1569390220	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569390976	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1602567594	AAGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602573558	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1602577238	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001556	hsa-miR-155-5p	pSILAC	18668040
MIRT001556	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT023489	hsa-miR-1-3p	Proteomics	18668040
MIRT046192	hsa-miR-27b-3p	CLASH	23622248
MIRT037054	hsa-miR-877-3p	CLASH	23622248
MIRT624227	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT624226	hsa-miR-4511	HITS-CLIP	23824327
MIRT624225	hsa-miR-633	HITS-CLIP	23824327
MIRT624227	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT624226	hsa-miR-4511	HITS-CLIP	23824327
MIRT624225	hsa-miR-633	HITS-CLIP	23824327
MIRT624227	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT624226	hsa-miR-4511	HITS-CLIP	23824327
MIRT624225	hsa-miR-633	HITS-CLIP	23824327
MIRT624227	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT624226	hsa-miR-4511	HITS-CLIP	23824327
MIRT624225	hsa-miR-633	HITS-CLIP	23824327
MIRT624227	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT624226	hsa-miR-4511	HITS-CLIP	23824327
MIRT624225	hsa-miR-633	HITS-CLIP	23824327
MIRT624227	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT624226	hsa-miR-4511	HITS-CLIP	23824327
MIRT624225	hsa-miR-633	HITS-CLIP	23824327
MIRT916637	hsa-miR-133a	CLIP-seq
MIRT916638	hsa-miR-133b	CLIP-seq
MIRT916639	hsa-miR-217	CLIP-seq
MIRT916640	hsa-miR-3124-3p	CLIP-seq
MIRT916641	hsa-miR-3125	CLIP-seq
MIRT916642	hsa-miR-325	CLIP-seq
MIRT916643	hsa-miR-3650	CLIP-seq
MIRT916644	hsa-miR-3916	CLIP-seq
MIRT916645	hsa-miR-421	CLIP-seq
MIRT916646	hsa-miR-4418	CLIP-seq
MIRT916647	hsa-miR-448	CLIP-seq
MIRT916648	hsa-miR-450b-5p	CLIP-seq
MIRT916649	hsa-miR-4709-5p	CLIP-seq
MIRT916650	hsa-miR-4753-3p	CLIP-seq
MIRT916651	hsa-miR-4760-3p	CLIP-seq
MIRT916652	hsa-miR-4775	CLIP-seq
MIRT916653	hsa-miR-4794	CLIP-seq
MIRT916654	hsa-miR-507	CLIP-seq
MIRT916655	hsa-miR-509-3-5p	CLIP-seq
MIRT916656	hsa-miR-509-5p	CLIP-seq
MIRT916657	hsa-miR-557	CLIP-seq
MIRT916658	hsa-miR-579	CLIP-seq
MIRT916659	hsa-miR-583	CLIP-seq
MIRT916660	hsa-miR-590-3p	CLIP-seq
MIRT916661	hsa-miR-628-3p	CLIP-seq
MIRT916662	hsa-miR-630	CLIP-seq
MIRT916663	hsa-miR-664	CLIP-seq
MIRT916664	hsa-miR-892b	CLIP-seq
MIRT916665	hsa-miR-101	CLIP-seq
MIRT916666	hsa-miR-1197	CLIP-seq
MIRT916667	hsa-miR-1266	CLIP-seq
MIRT916668	hsa-miR-1305	CLIP-seq
MIRT916669	hsa-miR-146a	CLIP-seq
MIRT916670	hsa-miR-146b-5p	CLIP-seq
MIRT916671	hsa-miR-186	CLIP-seq
MIRT916672	hsa-miR-188-5p	CLIP-seq
MIRT916673	hsa-miR-194	CLIP-seq
MIRT916674	hsa-miR-204	CLIP-seq
MIRT916675	hsa-miR-211	CLIP-seq
MIRT916676	hsa-miR-224	CLIP-seq
MIRT916677	hsa-miR-3117-3p	CLIP-seq
MIRT916678	hsa-miR-3664-3p	CLIP-seq
MIRT916645	hsa-miR-421	CLIP-seq
MIRT916679	hsa-miR-4275	CLIP-seq
MIRT916680	hsa-miR-4276	CLIP-seq
MIRT916681	hsa-miR-4302	CLIP-seq
MIRT916682	hsa-miR-4328	CLIP-seq
MIRT916683	hsa-miR-4503	CLIP-seq
MIRT916648	hsa-miR-450b-5p	CLIP-seq
MIRT916684	hsa-miR-4518	CLIP-seq
MIRT916685	hsa-miR-4659a-5p	CLIP-seq
MIRT916686	hsa-miR-4659b-5p	CLIP-seq
MIRT916687	hsa-miR-4699-5p	CLIP-seq
MIRT916688	hsa-miR-4701-5p	CLIP-seq
MIRT916689	hsa-miR-4703-3p	CLIP-seq
MIRT916690	hsa-miR-4709-3p	CLIP-seq
MIRT916649	hsa-miR-4709-5p	CLIP-seq
MIRT916691	hsa-miR-4719	CLIP-seq
MIRT916692	hsa-miR-4728-5p	CLIP-seq
MIRT916693	hsa-miR-4766-5p	CLIP-seq
MIRT916694	hsa-miR-4776-3p	CLIP-seq
MIRT916695	hsa-miR-494	CLIP-seq
MIRT916696	hsa-miR-498	CLIP-seq
MIRT916697	hsa-miR-542-5p	CLIP-seq
MIRT916698	hsa-miR-580	CLIP-seq
MIRT916699	hsa-miR-588	CLIP-seq
MIRT916700	hsa-miR-589	CLIP-seq
MIRT916701	hsa-miR-607	CLIP-seq
MIRT916702	hsa-miR-619	CLIP-seq
MIRT916665	hsa-miR-101	CLIP-seq
MIRT916637	hsa-miR-133a	CLIP-seq
MIRT916638	hsa-miR-133b	CLIP-seq
MIRT1971896	hsa-miR-142-5p	CLIP-seq
MIRT1971897	hsa-miR-144	CLIP-seq
MIRT916669	hsa-miR-146a	CLIP-seq
MIRT916670	hsa-miR-146b-5p	CLIP-seq
MIRT916673	hsa-miR-194	CLIP-seq
MIRT1971898	hsa-miR-199a-5p	CLIP-seq
MIRT1971899	hsa-miR-199b-5p	CLIP-seq
MIRT1971900	hsa-miR-19a	CLIP-seq
MIRT1971901	hsa-miR-19b	CLIP-seq
MIRT1971902	hsa-miR-30a	CLIP-seq
MIRT1971903	hsa-miR-30b	CLIP-seq
MIRT1971904	hsa-miR-30c	CLIP-seq
MIRT1971905	hsa-miR-30d	CLIP-seq
MIRT1971906	hsa-miR-30e	CLIP-seq
MIRT1971907	hsa-miR-3121-3p	CLIP-seq
MIRT1971908	hsa-miR-3161	CLIP-seq
MIRT1971909	hsa-miR-3664-5p	CLIP-seq
MIRT1971910	hsa-miR-3977	CLIP-seq
MIRT916645	hsa-miR-421	CLIP-seq
MIRT916681	hsa-miR-4302	CLIP-seq
MIRT916648	hsa-miR-450b-5p	CLIP-seq
MIRT1971911	hsa-miR-4680-5p	CLIP-seq
MIRT916688	hsa-miR-4701-5p	CLIP-seq
MIRT916690	hsa-miR-4709-3p	CLIP-seq
MIRT916650	hsa-miR-4753-3p	CLIP-seq
MIRT916652	hsa-miR-4775	CLIP-seq
MIRT916654	hsa-miR-507	CLIP-seq
MIRT916657	hsa-miR-557	CLIP-seq
MIRT1971912	hsa-miR-561	CLIP-seq
MIRT916658	hsa-miR-579	CLIP-seq
MIRT916698	hsa-miR-580	CLIP-seq
MIRT916699	hsa-miR-588	CLIP-seq
MIRT916700	hsa-miR-589	CLIP-seq
MIRT916660	hsa-miR-590-3p	CLIP-seq
MIRT916702	hsa-miR-619	CLIP-seq
MIRT916662	hsa-miR-630	CLIP-seq
MIRT1971913	hsa-miR-648	CLIP-seq
MIRT1971914	hsa-miR-656	CLIP-seq
MIRT916663	hsa-miR-664	CLIP-seq
MIRT1971915	hsa-miR-891b	CLIP-seq
MIRT2207550	hsa-miR-1208	CLIP-seq
MIRT2207551	hsa-miR-1255a	CLIP-seq
MIRT2207552	hsa-miR-1255b	CLIP-seq
MIRT2207553	hsa-miR-1273e	CLIP-seq
MIRT2207554	hsa-miR-141	CLIP-seq
MIRT916673	hsa-miR-194	CLIP-seq
MIRT1971898	hsa-miR-199a-5p	CLIP-seq
MIRT1971899	hsa-miR-199b-5p	CLIP-seq
MIRT1971900	hsa-miR-19a	CLIP-seq
MIRT1971901	hsa-miR-19b	CLIP-seq
MIRT2207555	hsa-miR-200a	CLIP-seq
MIRT2207556	hsa-miR-2054	CLIP-seq
MIRT2207557	hsa-miR-216a	CLIP-seq
MIRT916676	hsa-miR-224	CLIP-seq
MIRT2207558	hsa-miR-337-5p	CLIP-seq
MIRT2207559	hsa-miR-342-3p	CLIP-seq
MIRT2207560	hsa-miR-3618	CLIP-seq
MIRT2207561	hsa-miR-3688-5p	CLIP-seq
MIRT1971910	hsa-miR-3977	CLIP-seq
MIRT2207562	hsa-miR-411	CLIP-seq
MIRT916645	hsa-miR-421	CLIP-seq
MIRT2207563	hsa-miR-4251	CLIP-seq
MIRT2207564	hsa-miR-4270	CLIP-seq
MIRT916679	hsa-miR-4275	CLIP-seq
MIRT916681	hsa-miR-4302	CLIP-seq
MIRT2207565	hsa-miR-4422	CLIP-seq
MIRT2207566	hsa-miR-4424	CLIP-seq
MIRT2207567	hsa-miR-4441	CLIP-seq
MIRT2207568	hsa-miR-4470	CLIP-seq
MIRT2207569	hsa-miR-4476	CLIP-seq
MIRT2207570	hsa-miR-4485	CLIP-seq
MIRT916648	hsa-miR-450b-5p	CLIP-seq
MIRT916689	hsa-miR-4703-3p	CLIP-seq
MIRT916649	hsa-miR-4709-5p	CLIP-seq
MIRT2207571	hsa-miR-4728-3p	CLIP-seq
MIRT2207572	hsa-miR-4731-3p	CLIP-seq
MIRT2207573	hsa-miR-4742-5p	CLIP-seq
MIRT916693	hsa-miR-4766-5p	CLIP-seq
MIRT2207574	hsa-miR-4773	CLIP-seq
MIRT916652	hsa-miR-4775	CLIP-seq
MIRT2207575	hsa-miR-4801	CLIP-seq
MIRT2207576	hsa-miR-539	CLIP-seq
MIRT916660	hsa-miR-590-3p	CLIP-seq
MIRT2207577	hsa-miR-605	CLIP-seq
MIRT2207578	hsa-miR-642b	CLIP-seq
MIRT1971913	hsa-miR-648	CLIP-seq
MIRT2207579	hsa-miR-653	CLIP-seq
MIRT2207580	hsa-miR-671-5p	CLIP-seq
MIRT1971915	hsa-miR-891b	CLIP-seq
MIRT2207581	hsa-miR-936	CLIP-seq
MIRT916668	hsa-miR-1305	CLIP-seq
MIRT1971896	hsa-miR-142-5p	CLIP-seq
MIRT2436519	hsa-miR-3913-3p	CLIP-seq
MIRT2436520	hsa-miR-489	CLIP-seq
MIRT916665	hsa-miR-101	CLIP-seq
MIRT2510798	hsa-miR-105	CLIP-seq
MIRT2510799	hsa-miR-1253	CLIP-seq
MIRT2207551	hsa-miR-1255a	CLIP-seq
MIRT2207552	hsa-miR-1255b	CLIP-seq
MIRT2510800	hsa-miR-1283	CLIP-seq
MIRT2510801	hsa-miR-1293	CLIP-seq
MIRT916668	hsa-miR-1305	CLIP-seq
MIRT2510802	hsa-miR-132	CLIP-seq
MIRT2510803	hsa-miR-1321	CLIP-seq
MIRT916637	hsa-miR-133a	CLIP-seq
MIRT916638	hsa-miR-133b	CLIP-seq
MIRT1971896	hsa-miR-142-5p	CLIP-seq
MIRT1971897	hsa-miR-144	CLIP-seq
MIRT916671	hsa-miR-186	CLIP-seq
MIRT916673	hsa-miR-194	CLIP-seq
MIRT2207556	hsa-miR-2054	CLIP-seq
MIRT2510804	hsa-miR-212	CLIP-seq
MIRT2207557	hsa-miR-216a	CLIP-seq
MIRT916676	hsa-miR-224	CLIP-seq
MIRT2510805	hsa-miR-2276	CLIP-seq
MIRT2510806	hsa-miR-296-3p	CLIP-seq
MIRT2510807	hsa-miR-3065-5p	CLIP-seq
MIRT2510808	hsa-miR-3123	CLIP-seq
MIRT2510809	hsa-miR-3126-5p	CLIP-seq
MIRT2510810	hsa-miR-3144-5p	CLIP-seq
MIRT2510811	hsa-miR-3148	CLIP-seq
MIRT2510812	hsa-miR-3149	CLIP-seq
MIRT2510813	hsa-miR-3153	CLIP-seq
MIRT1971908	hsa-miR-3161	CLIP-seq
MIRT2510814	hsa-miR-335	CLIP-seq
MIRT2207559	hsa-miR-342-3p	CLIP-seq
MIRT2510815	hsa-miR-3529	CLIP-seq
MIRT2207560	hsa-miR-3618	CLIP-seq
MIRT2510816	hsa-miR-3646	CLIP-seq
MIRT916643	hsa-miR-3650	CLIP-seq
MIRT2510817	hsa-miR-3662	CLIP-seq
MIRT1971909	hsa-miR-3664-5p	CLIP-seq
MIRT2510818	hsa-miR-3691-3p	CLIP-seq
MIRT2510819	hsa-miR-371-5p	CLIP-seq
MIRT2510820	hsa-miR-371b-5p	CLIP-seq
MIRT2510821	hsa-miR-379	CLIP-seq
MIRT2436519	hsa-miR-3913-3p	CLIP-seq
MIRT2510822	hsa-miR-3922-5p	CLIP-seq
MIRT2510823	hsa-miR-3925-5p	CLIP-seq
MIRT1971910	hsa-miR-3977	CLIP-seq
MIRT2510824	hsa-miR-4259	CLIP-seq
MIRT2207564	hsa-miR-4270	CLIP-seq
MIRT916679	hsa-miR-4275	CLIP-seq
MIRT2510825	hsa-miR-4279	CLIP-seq
MIRT2510826	hsa-miR-4283	CLIP-seq
MIRT2510827	hsa-miR-431	CLIP-seq
MIRT2510828	hsa-miR-4311	CLIP-seq
MIRT2510829	hsa-miR-4315	CLIP-seq
MIRT916682	hsa-miR-4328	CLIP-seq
MIRT2510830	hsa-miR-4419a	CLIP-seq
MIRT2207566	hsa-miR-4424	CLIP-seq
MIRT2510831	hsa-miR-4425	CLIP-seq
MIRT2207567	hsa-miR-4441	CLIP-seq
MIRT2510832	hsa-miR-4451	CLIP-seq
MIRT2207569	hsa-miR-4476	CLIP-seq
MIRT2510833	hsa-miR-4483	CLIP-seq
MIRT916683	hsa-miR-4503	CLIP-seq
MIRT2510834	hsa-miR-450b-3p	CLIP-seq
MIRT916648	hsa-miR-450b-5p	CLIP-seq
MIRT2510835	hsa-miR-4510	CLIP-seq
MIRT2510836	hsa-miR-451b	CLIP-seq
MIRT2510837	hsa-miR-4639-5p	CLIP-seq
MIRT2510838	hsa-miR-4648	CLIP-seq
MIRT2510839	hsa-miR-4650-3p	CLIP-seq
MIRT2510840	hsa-miR-4654	CLIP-seq
MIRT2510841	hsa-miR-4668-5p	CLIP-seq
MIRT1971911	hsa-miR-4680-5p	CLIP-seq
MIRT916687	hsa-miR-4699-5p	CLIP-seq
MIRT2510842	hsa-miR-4700-3p	CLIP-seq
MIRT916689	hsa-miR-4703-3p	CLIP-seq
MIRT2510843	hsa-miR-4708-3p	CLIP-seq
MIRT916691	hsa-miR-4719	CLIP-seq
MIRT2510844	hsa-miR-4724-5p	CLIP-seq
MIRT916692	hsa-miR-4728-5p	CLIP-seq
MIRT2510845	hsa-miR-4739	CLIP-seq
MIRT2510846	hsa-miR-4751	CLIP-seq
MIRT916650	hsa-miR-4753-3p	CLIP-seq
MIRT2510847	hsa-miR-4753-5p	CLIP-seq
MIRT2510848	hsa-miR-4756-5p	CLIP-seq
MIRT916651	hsa-miR-4760-3p	CLIP-seq
MIRT2510849	hsa-miR-4766-3p	CLIP-seq
MIRT916693	hsa-miR-4766-5p	CLIP-seq
MIRT2510850	hsa-miR-4768-5p	CLIP-seq
MIRT2510851	hsa-miR-4769-5p	CLIP-seq
MIRT2510852	hsa-miR-4799-5p	CLIP-seq
MIRT2436520	hsa-miR-489	CLIP-seq
MIRT2510853	hsa-miR-493	CLIP-seq
MIRT916695	hsa-miR-494	CLIP-seq
MIRT916696	hsa-miR-498	CLIP-seq
MIRT2207576	hsa-miR-539	CLIP-seq
MIRT916697	hsa-miR-542-5p	CLIP-seq
MIRT2510854	hsa-miR-548ae	CLIP-seq
MIRT2510855	hsa-miR-548aj	CLIP-seq
MIRT2510856	hsa-miR-548am	CLIP-seq
MIRT2510857	hsa-miR-548n	CLIP-seq
MIRT2510858	hsa-miR-548t	CLIP-seq
MIRT2510859	hsa-miR-548x	CLIP-seq
MIRT1971912	hsa-miR-561	CLIP-seq
MIRT2510860	hsa-miR-571	CLIP-seq
MIRT916658	hsa-miR-579	CLIP-seq
MIRT2510861	hsa-miR-581	CLIP-seq
MIRT2510862	hsa-miR-587	CLIP-seq
MIRT2207577	hsa-miR-605	CLIP-seq
MIRT916701	hsa-miR-607	CLIP-seq
MIRT2510863	hsa-miR-618	CLIP-seq
MIRT2207578	hsa-miR-642b	CLIP-seq
MIRT916663	hsa-miR-664	CLIP-seq
MIRT2207580	hsa-miR-671-5p	CLIP-seq
MIRT2510864	hsa-miR-760	CLIP-seq
MIRT2510865	hsa-miR-769-3p	CLIP-seq
MIRT2510866	hsa-miR-876-3p	CLIP-seq
MIRT2510867	hsa-miR-885-5p	CLIP-seq
MIRT2510868	hsa-miR-9	CLIP-seq
MIRT916665	hsa-miR-101	CLIP-seq
MIRT2510798	hsa-miR-105	CLIP-seq
MIRT2678815	hsa-miR-1207-3p	CLIP-seq
MIRT2510799	hsa-miR-1253	CLIP-seq
MIRT2207551	hsa-miR-1255a	CLIP-seq
MIRT2207552	hsa-miR-1255b	CLIP-seq
MIRT2510800	hsa-miR-1283	CLIP-seq
MIRT2510801	hsa-miR-1293	CLIP-seq
MIRT916668	hsa-miR-1305	CLIP-seq
MIRT2510802	hsa-miR-132	CLIP-seq
MIRT2510803	hsa-miR-1321	CLIP-seq
MIRT2678816	hsa-miR-1323	CLIP-seq
MIRT916637	hsa-miR-133a	CLIP-seq
MIRT916638	hsa-miR-133b	CLIP-seq
MIRT1971896	hsa-miR-142-5p	CLIP-seq
MIRT1971897	hsa-miR-144	CLIP-seq
MIRT916671	hsa-miR-186	CLIP-seq
MIRT916673	hsa-miR-194	CLIP-seq
MIRT2207556	hsa-miR-2054	CLIP-seq
MIRT2510804	hsa-miR-212	CLIP-seq
MIRT2207557	hsa-miR-216a	CLIP-seq
MIRT916676	hsa-miR-224	CLIP-seq
MIRT2510805	hsa-miR-2276	CLIP-seq
MIRT2510806	hsa-miR-296-3p	CLIP-seq
MIRT2510807	hsa-miR-3065-5p	CLIP-seq
MIRT2510808	hsa-miR-3123	CLIP-seq
MIRT916640	hsa-miR-3124-3p	CLIP-seq
MIRT916641	hsa-miR-3125	CLIP-seq
MIRT2510809	hsa-miR-3126-5p	CLIP-seq
MIRT2510810	hsa-miR-3144-5p	CLIP-seq
MIRT2510811	hsa-miR-3148	CLIP-seq
MIRT2510812	hsa-miR-3149	CLIP-seq
MIRT2510813	hsa-miR-3153	CLIP-seq
MIRT1971908	hsa-miR-3161	CLIP-seq
MIRT2510814	hsa-miR-335	CLIP-seq
MIRT2207559	hsa-miR-342-3p	CLIP-seq
MIRT2510815	hsa-miR-3529	CLIP-seq
MIRT2207560	hsa-miR-3618	CLIP-seq
MIRT2510816	hsa-miR-3646	CLIP-seq
MIRT916643	hsa-miR-3650	CLIP-seq
MIRT2510817	hsa-miR-3662	CLIP-seq
MIRT1971909	hsa-miR-3664-5p	CLIP-seq
MIRT2510818	hsa-miR-3691-3p	CLIP-seq
MIRT2510819	hsa-miR-371-5p	CLIP-seq
MIRT2510820	hsa-miR-371b-5p	CLIP-seq
MIRT2510821	hsa-miR-379	CLIP-seq
MIRT2436519	hsa-miR-3913-3p	CLIP-seq
MIRT916644	hsa-miR-3916	CLIP-seq
MIRT2510822	hsa-miR-3922-5p	CLIP-seq
MIRT2510823	hsa-miR-3925-5p	CLIP-seq
MIRT1971910	hsa-miR-3977	CLIP-seq
MIRT2510824	hsa-miR-4259	CLIP-seq
MIRT2207564	hsa-miR-4270	CLIP-seq
MIRT916679	hsa-miR-4275	CLIP-seq
MIRT2510825	hsa-miR-4279	CLIP-seq
MIRT2510826	hsa-miR-4283	CLIP-seq
MIRT2510827	hsa-miR-431	CLIP-seq
MIRT2510828	hsa-miR-4311	CLIP-seq
MIRT2510829	hsa-miR-4315	CLIP-seq
MIRT916682	hsa-miR-4328	CLIP-seq
MIRT2510830	hsa-miR-4419a	CLIP-seq
MIRT2207566	hsa-miR-4424	CLIP-seq
MIRT2510831	hsa-miR-4425	CLIP-seq
MIRT2207567	hsa-miR-4441	CLIP-seq
MIRT2510832	hsa-miR-4451	CLIP-seq
MIRT2207569	hsa-miR-4476	CLIP-seq
MIRT2510833	hsa-miR-4483	CLIP-seq
MIRT916683	hsa-miR-4503	CLIP-seq
MIRT2510834	hsa-miR-450b-3p	CLIP-seq
MIRT916648	hsa-miR-450b-5p	CLIP-seq
MIRT2510835	hsa-miR-4510	CLIP-seq
MIRT2510836	hsa-miR-451b	CLIP-seq
MIRT2510837	hsa-miR-4639-5p	CLIP-seq
MIRT2510838	hsa-miR-4648	CLIP-seq
MIRT2510839	hsa-miR-4650-3p	CLIP-seq
MIRT2510840	hsa-miR-4654	CLIP-seq
MIRT2510841	hsa-miR-4668-5p	CLIP-seq
MIRT1971911	hsa-miR-4680-5p	CLIP-seq
MIRT916687	hsa-miR-4699-5p	CLIP-seq
MIRT2510842	hsa-miR-4700-3p	CLIP-seq
MIRT916689	hsa-miR-4703-3p	CLIP-seq
MIRT2510843	hsa-miR-4708-3p	CLIP-seq
MIRT916690	hsa-miR-4709-3p	CLIP-seq
MIRT916691	hsa-miR-4719	CLIP-seq
MIRT2510844	hsa-miR-4724-5p	CLIP-seq
MIRT916692	hsa-miR-4728-5p	CLIP-seq
MIRT2678817	hsa-miR-4735-5p	CLIP-seq
MIRT2510845	hsa-miR-4739	CLIP-seq
MIRT2510846	hsa-miR-4751	CLIP-seq
MIRT916650	hsa-miR-4753-3p	CLIP-seq
MIRT2510847	hsa-miR-4753-5p	CLIP-seq
MIRT2510848	hsa-miR-4756-5p	CLIP-seq
MIRT916651	hsa-miR-4760-3p	CLIP-seq
MIRT2510849	hsa-miR-4766-3p	CLIP-seq
MIRT916693	hsa-miR-4766-5p	CLIP-seq
MIRT2510850	hsa-miR-4768-5p	CLIP-seq
MIRT2510851	hsa-miR-4769-5p	CLIP-seq
MIRT2207574	hsa-miR-4773	CLIP-seq
MIRT916652	hsa-miR-4775	CLIP-seq
MIRT2510852	hsa-miR-4799-5p	CLIP-seq
MIRT2436520	hsa-miR-489	CLIP-seq
MIRT2510853	hsa-miR-493	CLIP-seq
MIRT916695	hsa-miR-494	CLIP-seq
MIRT916696	hsa-miR-498	CLIP-seq
MIRT2207576	hsa-miR-539	CLIP-seq
MIRT916697	hsa-miR-542-5p	CLIP-seq
MIRT2678818	hsa-miR-548a-3p	CLIP-seq
MIRT2510854	hsa-miR-548ae	CLIP-seq
MIRT2510855	hsa-miR-548aj	CLIP-seq
MIRT2510856	hsa-miR-548am	CLIP-seq
MIRT2678819	hsa-miR-548e	CLIP-seq
MIRT2678820	hsa-miR-548f	CLIP-seq
MIRT2678821	hsa-miR-548g	CLIP-seq
MIRT2510857	hsa-miR-548n	CLIP-seq
MIRT2678822	hsa-miR-548o	CLIP-seq
MIRT2510858	hsa-miR-548t	CLIP-seq
MIRT2510859	hsa-miR-548x	CLIP-seq
MIRT1971912	hsa-miR-561	CLIP-seq
MIRT2510860	hsa-miR-571	CLIP-seq
MIRT916658	hsa-miR-579	CLIP-seq
MIRT2510861	hsa-miR-581	CLIP-seq
MIRT916659	hsa-miR-583	CLIP-seq
MIRT2510862	hsa-miR-587	CLIP-seq
MIRT916660	hsa-miR-590-3p	CLIP-seq
MIRT2207577	hsa-miR-605	CLIP-seq
MIRT916701	hsa-miR-607	CLIP-seq
MIRT2510863	hsa-miR-618	CLIP-seq
MIRT2207578	hsa-miR-642b	CLIP-seq
MIRT916663	hsa-miR-664	CLIP-seq
MIRT2207580	hsa-miR-671-5p	CLIP-seq
MIRT2510864	hsa-miR-760	CLIP-seq
MIRT2510865	hsa-miR-769-3p	CLIP-seq
MIRT2510866	hsa-miR-876-3p	CLIP-seq
MIRT2510867	hsa-miR-885-5p	CLIP-seq
MIRT2510868	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	NAS	8681378
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0003684	Function	Damaged DNA binding	IDA	22334663
GO:0005515	Function	Protein binding	IPI	12609982, 16949367, 16964240, 17041588, 18775313, 19651607, 21145461, 21778237, 22466964, 22939624, 23238014, 25036637, 25435324, 25910212, 26496610, 26906416, 30945288, 33961781, 35271311, 35512704
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	22118460
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	ISS
GO:0010467	Process	Gene expression	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IDA	25970626
GO:0010498	Process	Proteasomal protein catabolic process	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IMP	25970626
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	28437394
GO:0031461	Component	Cullin-RING ubiquitin ligase complex	IEA
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	EXP	22118460
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IEA
GO:0031465	Component	Cul4B-RING E3 ubiquitin ligase complex	IBA
GO:0031465	Component	Cul4B-RING E3 ubiquitin ligase complex	IDA	18794347, 21628527, 22334663
GO:0031465	Component	Cul4B-RING E3 ubiquitin ligase complex	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0034644	Process	Cellular response to UV	IEA
GO:0034644	Process	Cellular response to UV	ISS
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042254	Process	Ribosome biogenesis	IMP	26711351
GO:0045732	Process	Positive regulation of protein catabolic process	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070914	Process	UV-damage excision repair	IDA	22334663
GO:0080008	Component	Cul4-RING E3 ubiquitin ligase complex	IDA	16949367
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IEA

Other IDs

• MIM: 300304
• HGNC: 2555
• e!Ensembl: ENSG00000158290

Protein

• UniProt ID: Q13620
• Protein name: Cullin-4B (CUL-4B)
• Protein function: Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14578910, PubMed:16322693, PubMed:16678110, PubMed:18593899, Pu
• PDB: 2DO7, 4A0C, 4A0L, 4A64, 8EI1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00888	Cullin	217 → 814	Cullin family	Family
  PF10557	Cullin_Nedd8	845 → 905	Cullin protein neddylation domain	Domain

• Sequence:

  MMSQSSGSGDGNDDEATTSKDGGFSSPSPSAAAAAQEVRSATDGNTSTTPPTSAKKRKLN
  SSSSSSSNSSNEREDFDSTSSSSSTPPLQPRDSASPSTSSFCLGVSVAASSHVPIQKKLR
  FEDTLEFVGFDAKMAEESSSSSSSSSPTAATSQQQQLKNKSILISSVASVHHANGLAKSS
  TTVSSFANSKPGSAKKLVIKNFKDKPKLPENYTDETWQKLKEAVEAIQNSTSIKYNLEEL
  YQAVENLCSYKISANLYKQLRQICEDHIKAQIHQFREDSLDSVLFLKKIDRCWQNHCRQM
  IMIRSIFLFLDRTYVLQNSMLPSIWDMGLELFRAHIISDQKVQNKTIDGILLLIERERNG
  EAIDRSLLRSLLSMLSDLQIYQDSFEQRFLEETNRLYAAEGQKLMQEREVPEYLHHVNKR
  LEEEADRLITYLDQTTQKSLIATVEKQLLGEHLTAILQKGLNNLLDENRIQDLSLLYQLF
  SRVRGGVQVLLQQWIEYIKAFGSTIVINPEKDKTMVQELLDFKDKVDHIIDICFLKNEKF
  INAMKEAFETFINKRPNKPAELIAKYVDSKLRAGNKEATDEELEKMLDKIMIIFRFIYGK
  DVFEAFYKKDLAKRLLVGKSASVDAEKSMLSKLKHECGAAFTSKLEGMFKDMELSKDIMI
  QFKQYMQNQNVPGNIELTVNILTMGYWPTYVPMEVHLPPEMVKLQEIFKTFYLGKHSGRK
  LQWQSTLGHCVLKAEFKEGKKELQVSLFQTLVLLMFNEGEEFSLEEIKQATGIEDGELRR
  TLQSLACGKARVLAKNPKGKDIEDGDKFICNDDFKHKLFRIKINQIQMKETVEEQASTTE
  RVFQDRQYQIDAAIVRIMKMRKTLSHNLLVSEVYNQLKFPVKPADLKKRIESLIDRDYME
  RDKENPNQYNYIA

• Sequence length: 913

Pathways

KEGG:

Nucleotide excision repair
Ubiquitin mediated proteolysis
Human immunodeficiency virus 1 infection

Reactome:

Recognition of DNA damage by PCNA-containing replication complex
DNA Damage Recognition in GG-NER
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Neddylation

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
Abnormal facial shape	Pathogenic	rs121434616	RCV000415116	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CUL4B-related disorder	Pathogenic	rs1602567594	RCV004545812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CUL4B-related X-linked intellectual disability	Pathogenic	rs797044862	RCV001795310	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs121434616	RCV000415116	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs878853152, rs121434616	RCV000224848 RCV000415116	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs121434616	RCV000415116	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Pathogenic	rs121434616	RCV000415116	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked intellectual disability Cabezas type	Pathogenic; Likely pathogenic	rs1379343211, rs2147321510, rs2521106352, rs2521066233, rs797044862, rs121434615, rs121434616, rs786200913, rs2521046077, rs2521200386, rs2521100200, rs2521198629, rs2521197429, rs2521136612, rs1057519396, rs1085307760, rs1556220623, rs1556206910, rs1569389364, rs905353542, rs1602577238, rs1924000101, rs2521124270	RCV001528174 RCV002221952 RCV002290058 RCV002468695 RCV000190824 RCV000012091 RCV000012092 RCV000012093 RCV003236630 RCV003387585 RCV003484524 RCV003512835 RCV003883291 RCV003890761 RCV000417055 RCV000590902 RCV002531888 RCV000627044 RCV000770976 RCV000824885 RCV000990935 RCV001253208 RCV001270368	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pettigrew syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE	—	ClinGen, GWAS catalog, Orphanet ClinGen, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	30945288		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31448526		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	30612524		★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	BEFREE	30992047		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29626254		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29100384		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28817111	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31374029		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24884718, 31374029	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36539038	Stimulate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	27974468		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27236156	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29100384		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27974468, 28164432		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33022894	Associate	★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24292684		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28808481		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23649548		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26617747		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29863249	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36849876	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28808481		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	BEFREE	20014135		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES	Pettigrew syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36849876	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30945295		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30612524		★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10978355, 17236139, 17273978, 19818632, 20002452, 20655035, 21816345, 24898194, 25385192, 28817236		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28817111		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	22763239		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	31690264		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	31690264		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	22606329		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease Type IIb	Glycogen Storage Disease	BEFREE	31729179		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	21795677, 23479742, 31678776, 32078988	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	17236139	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21795677	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20014135, 20064923, 21795677, 24898194, 25385192, 25956375, 27325702, 28817236		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	20064923, 21795677, 23348097, 23479742, 24898194, 25649377, 37365982	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	30945295		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	31678776	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	28817236		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25430888		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27974468	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	25385192		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	25385192	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31374029		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27974468, 28164432		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28685847, 29274277		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30609075, 30872583, 31111526		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29106389, 29393470, 30483755		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29100384		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23238014, 25430888, 26617747, 27974468, 28164432, 29106389, 29738775, 30483755, 30872583, 30883036, 30945288, 31111526		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23649548		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34011786	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	34011786	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	20014135, 20064923, 21795677, 25956375		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	17236139, 20002452, 20014135, 21352845, 22584258, 22606329, 22763239		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	17273978		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT	Mental retardation	ORPHANET_DG	17236139, 2000245		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT	Mental retardation	CLINGEN_DG	17236139, 17273978, 22763239		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT	Mental retardation	GENOMICS_ENGLAND_DG	17236139, 22182342, 24898194, 25385192		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT	Mental retardation	UNIPROT_DG	17236139, 17273978, 19377476, 20002452		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT	Mental retardation	BEFREE	20002452, 31729179		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	37686215	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27899484		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	25385192	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10978355, 17236139, 17273978, 19818632, 20002452, 20655035, 21816345, 24898194, 25385192, 28817236		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23649548, 24292684, 25430888, 27656838, 27974468, 28164432, 28808481, 29106389, 29274277, 29581734, 30883036, 31235785		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	30992047		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27656838, 28164432, 31407591, 31448526		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17236139, 27899484		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17236139	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25189186, 28446751, 29377600, 29499938, 30229816, 31598391		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28446751, 30229816	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32622365, 33506897	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28685847, 29274277		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36593912, 40635349	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	20064923		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	20064923	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	20064923		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30609075, 30872583, 31111526		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34338146	Associate	★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	17236139	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	20002452		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29581734		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30883036		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29106389, 29393470, 30483755		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29393470, 34608273	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	17236139, 20064923, 31678776, 32078988	Associate	★☆☆☆☆ Found in Text Mining only
X-linked intellectual disability, Cabezas type	Mental Retardation, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum Complementation Group E	Xeroderma pigmentosum	Pubtator	22334663	Associate	★☆☆☆☆ Found in Text Mining only