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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84295
Gene name	PHD finger protein 6
Gene symbol	PHF6
Synonyms (NCBI Gene)	BFLSBORJCENP-31
Chromosome	X
Chromosome location	Xq26.2
Summary	This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894917	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894918	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894919	A>G	Pathogenic	Coding sequence variant, missense variant
rs112199174	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs132630297	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant
rs132630298	G>T	Pathogenic	Coding sequence variant, missense variant
rs132630299	G>A	Pathogenic	Coding sequence variant, missense variant
rs132630300	T>C	Pathogenic	Initiator codon variant, missense variant
rs132630301	A>T	Pathogenic	Coding sequence variant, stop gained
rs188961105	A>G	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs200423380	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs398124428	G>T	Pathogenic	Missense variant, initiator codon variant
rs587777489	G>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs758791658	->A	Pathogenic	Coding sequence variant, frameshift variant
rs771399346	A>C,G	Pathogenic	Intron variant
rs797044908	TG>AA	Pathogenic	Stop gained, inframe indel, genic downstream transcript variant, coding sequence variant
rs864309532	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064795103	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1114167289	C>A	Pathogenic	Coding sequence variant, stop gained
rs1556013203	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1556018932	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556019105	ACA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1556019107	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556020616	GAGAGA>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1569334260	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1569343210	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1602717803	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020833	hsa-miR-155-5p	Proteomics	18668040
MIRT022787	hsa-miR-124-3p	Proteomics	18668037
MIRT024322	hsa-miR-215-5p	Microarray	19074876
MIRT026628	hsa-miR-192-5p	Microarray	19074876
MIRT052389	hsa-let-7a-5p	CLASH	23622248
MIRT244898	hsa-miR-4311	PAR-CLIP	22012620
MIRT535295	hsa-miR-5197-5p	PAR-CLIP	22012620
MIRT244897	hsa-miR-548p	PAR-CLIP	22012620
MIRT535294	hsa-miR-570-3p	PAR-CLIP	22012620
MIRT244899	hsa-miR-4477a	PAR-CLIP	22012620
MIRT108814	hsa-miR-410-3p	PAR-CLIP	22100165
MIRT326405	hsa-miR-510-3p	PAR-CLIP	22100165
MIRT175650	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT175644	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT175650	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT175643	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT175658	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT175645	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT175666	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT175644	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT244898	hsa-miR-4311	PAR-CLIP	22012620
MIRT535295	hsa-miR-5197-5p	PAR-CLIP	22012620
MIRT244897	hsa-miR-548p	PAR-CLIP	22012620
MIRT535294	hsa-miR-570-3p	PAR-CLIP	22012620
MIRT244899	hsa-miR-4477a	PAR-CLIP	22012620
MIRT108814	hsa-miR-410-3p	PAR-CLIP	22100165
MIRT326405	hsa-miR-510-3p	PAR-CLIP	22100165
MIRT1231165	hsa-miR-101	CLIP-seq
MIRT1231166	hsa-miR-1207-3p	CLIP-seq
MIRT1231167	hsa-miR-124	CLIP-seq
MIRT1231168	hsa-miR-128	CLIP-seq
MIRT1231169	hsa-miR-1290	CLIP-seq
MIRT1231170	hsa-miR-129-5p	CLIP-seq
MIRT1231171	hsa-miR-139-5p	CLIP-seq
MIRT1231172	hsa-miR-144	CLIP-seq
MIRT1231173	hsa-miR-186	CLIP-seq
MIRT1231174	hsa-miR-199a-5p	CLIP-seq
MIRT1231175	hsa-miR-199b-5p	CLIP-seq
MIRT1231176	hsa-miR-203	CLIP-seq
MIRT1231177	hsa-miR-2116	CLIP-seq
MIRT1231178	hsa-miR-218	CLIP-seq
MIRT1231179	hsa-miR-224	CLIP-seq
MIRT1231180	hsa-miR-298	CLIP-seq
MIRT1231181	hsa-miR-30a	CLIP-seq
MIRT1231182	hsa-miR-30b	CLIP-seq
MIRT1231183	hsa-miR-30c	CLIP-seq
MIRT1231184	hsa-miR-30d	CLIP-seq
MIRT1231185	hsa-miR-30e	CLIP-seq
MIRT1231186	hsa-miR-3121-5p	CLIP-seq
MIRT1231187	hsa-miR-3124-3p	CLIP-seq
MIRT1231188	hsa-miR-3133	CLIP-seq
MIRT1231189	hsa-miR-3155	CLIP-seq
MIRT1231190	hsa-miR-3155b	CLIP-seq
MIRT1231191	hsa-miR-3158-5p	CLIP-seq
MIRT1231192	hsa-miR-3160-5p	CLIP-seq
MIRT1231193	hsa-miR-3171	CLIP-seq
MIRT1231194	hsa-miR-320a	CLIP-seq
MIRT1231195	hsa-miR-320b	CLIP-seq
MIRT1231196	hsa-miR-320c	CLIP-seq
MIRT1231197	hsa-miR-320d	CLIP-seq
MIRT1231198	hsa-miR-320e	CLIP-seq
MIRT1231199	hsa-miR-337-5p	CLIP-seq
MIRT1231200	hsa-miR-34c-3p	CLIP-seq
MIRT1231201	hsa-miR-3646	CLIP-seq
MIRT1231202	hsa-miR-3647-3p	CLIP-seq
MIRT1231203	hsa-miR-3714	CLIP-seq
MIRT1231204	hsa-miR-3910	CLIP-seq
MIRT1231205	hsa-miR-3914	CLIP-seq
MIRT1231206	hsa-miR-3977	CLIP-seq
MIRT1231207	hsa-miR-410	CLIP-seq
MIRT1231208	hsa-miR-4263	CLIP-seq
MIRT1231209	hsa-miR-4282	CLIP-seq
MIRT1231210	hsa-miR-4302	CLIP-seq
MIRT1231211	hsa-miR-4305	CLIP-seq
MIRT1231212	hsa-miR-4429	CLIP-seq
MIRT1231213	hsa-miR-4453	CLIP-seq
MIRT1231214	hsa-miR-4477b	CLIP-seq
MIRT1231215	hsa-miR-4485	CLIP-seq
MIRT1231216	hsa-miR-4490	CLIP-seq
MIRT1231217	hsa-miR-4495	CLIP-seq
MIRT1231218	hsa-miR-4538	CLIP-seq
MIRT1231219	hsa-miR-4645-3p	CLIP-seq
MIRT1231220	hsa-miR-4659a-5p	CLIP-seq
MIRT1231221	hsa-miR-4659b-5p	CLIP-seq
MIRT1231222	hsa-miR-4663	CLIP-seq
MIRT1231223	hsa-miR-4668-3p	CLIP-seq
MIRT1231224	hsa-miR-4698	CLIP-seq
MIRT1231225	hsa-miR-4774-5p	CLIP-seq
MIRT1231226	hsa-miR-4776-3p	CLIP-seq
MIRT1231227	hsa-miR-4799-5p	CLIP-seq
MIRT1231228	hsa-miR-484	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT1231230	hsa-miR-500a	CLIP-seq
MIRT1231231	hsa-miR-501-5p	CLIP-seq
MIRT1231232	hsa-miR-506	CLIP-seq
MIRT1231233	hsa-miR-513a-3p	CLIP-seq
MIRT1231234	hsa-miR-548a-3p	CLIP-seq
MIRT1231235	hsa-miR-548e	CLIP-seq
MIRT1231236	hsa-miR-548f	CLIP-seq
MIRT1231237	hsa-miR-576-5p	CLIP-seq
MIRT1231238	hsa-miR-582-5p	CLIP-seq
MIRT1231239	hsa-miR-586	CLIP-seq
MIRT1231240	hsa-miR-636	CLIP-seq
MIRT1231241	hsa-miR-659	CLIP-seq
MIRT1231242	hsa-miR-873	CLIP-seq
MIRT1920767	hsa-miR-2277-3p	CLIP-seq
MIRT1920768	hsa-miR-3660	CLIP-seq
MIRT1920769	hsa-miR-4526	CLIP-seq
MIRT1920770	hsa-miR-4760-3p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT1920767	hsa-miR-2277-3p	CLIP-seq
MIRT1920768	hsa-miR-3660	CLIP-seq
MIRT1920769	hsa-miR-4526	CLIP-seq
MIRT1920770	hsa-miR-4760-3p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT1920767	hsa-miR-2277-3p	CLIP-seq
MIRT1920768	hsa-miR-3660	CLIP-seq
MIRT1920769	hsa-miR-4526	CLIP-seq
MIRT1920770	hsa-miR-4760-3p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT2067847	hsa-miR-1252	CLIP-seq
MIRT2067848	hsa-miR-1267	CLIP-seq
MIRT1231168	hsa-miR-128	CLIP-seq
MIRT2067849	hsa-miR-1284	CLIP-seq
MIRT1231169	hsa-miR-1290	CLIP-seq
MIRT2067850	hsa-miR-1297	CLIP-seq
MIRT2067851	hsa-miR-136	CLIP-seq
MIRT1231173	hsa-miR-186	CLIP-seq
MIRT2067852	hsa-miR-21	CLIP-seq
MIRT2067853	hsa-miR-26a	CLIP-seq
MIRT2067854	hsa-miR-26b	CLIP-seq
MIRT2067855	hsa-miR-3117-5p	CLIP-seq
MIRT1231188	hsa-miR-3133	CLIP-seq
MIRT2067856	hsa-miR-3143	CLIP-seq
MIRT2067857	hsa-miR-3147	CLIP-seq
MIRT2067858	hsa-miR-329	CLIP-seq
MIRT2067859	hsa-miR-3617	CLIP-seq
MIRT2067860	hsa-miR-362-3p	CLIP-seq
MIRT1231201	hsa-miR-3646	CLIP-seq
MIRT1231202	hsa-miR-3647-3p	CLIP-seq
MIRT2067861	hsa-miR-3662	CLIP-seq
MIRT2067862	hsa-miR-3682-5p	CLIP-seq
MIRT2067863	hsa-miR-375	CLIP-seq
MIRT2067864	hsa-miR-377	CLIP-seq
MIRT2067865	hsa-miR-3920	CLIP-seq
MIRT2067866	hsa-miR-3941	CLIP-seq
MIRT2067867	hsa-miR-4259	CLIP-seq
MIRT2067868	hsa-miR-4318	CLIP-seq
MIRT2067869	hsa-miR-432	CLIP-seq
MIRT2067870	hsa-miR-4465	CLIP-seq
MIRT1231214	hsa-miR-4477b	CLIP-seq
MIRT1231217	hsa-miR-4495	CLIP-seq
MIRT2067871	hsa-miR-4672	CLIP-seq
MIRT2067872	hsa-miR-4693-5p	CLIP-seq
MIRT2067873	hsa-miR-4762-3p	CLIP-seq
MIRT2067874	hsa-miR-4789-5p	CLIP-seq
MIRT2067875	hsa-miR-496	CLIP-seq
MIRT2067876	hsa-miR-512-5p	CLIP-seq
MIRT2067877	hsa-miR-518a-5p	CLIP-seq
MIRT2067878	hsa-miR-527	CLIP-seq
MIRT2067879	hsa-miR-543	CLIP-seq
MIRT2067880	hsa-miR-570	CLIP-seq
MIRT2067881	hsa-miR-571	CLIP-seq
MIRT2067882	hsa-miR-590-5p	CLIP-seq
MIRT2067883	hsa-miR-603	CLIP-seq
MIRT2067884	hsa-miR-641	CLIP-seq
MIRT2067885	hsa-miR-7	CLIP-seq
MIRT2067886	hsa-miR-885-5p	CLIP-seq
MIRT2067887	hsa-miR-892a	CLIP-seq
MIRT2067888	hsa-miR-933	CLIP-seq
MIRT2295290	hsa-miR-1202	CLIP-seq
MIRT2295291	hsa-miR-1228	CLIP-seq
MIRT2295292	hsa-miR-1264	CLIP-seq
MIRT1231168	hsa-miR-128	CLIP-seq
MIRT1231170	hsa-miR-129-5p	CLIP-seq
MIRT2067850	hsa-miR-1297	CLIP-seq
MIRT2295293	hsa-miR-140-3p	CLIP-seq
MIRT2295294	hsa-miR-183	CLIP-seq
MIRT2295295	hsa-miR-1910	CLIP-seq
MIRT2295296	hsa-miR-196a	CLIP-seq
MIRT2295297	hsa-miR-196b	CLIP-seq
MIRT2295298	hsa-miR-198	CLIP-seq
MIRT1231174	hsa-miR-199a-5p	CLIP-seq
MIRT1231175	hsa-miR-199b-5p	CLIP-seq
MIRT1231176	hsa-miR-203	CLIP-seq
MIRT2067852	hsa-miR-21	CLIP-seq
MIRT1231177	hsa-miR-2116	CLIP-seq
MIRT1231179	hsa-miR-224	CLIP-seq
MIRT2067853	hsa-miR-26a	CLIP-seq
MIRT2067854	hsa-miR-26b	CLIP-seq
MIRT1231181	hsa-miR-30a	CLIP-seq
MIRT1231182	hsa-miR-30b	CLIP-seq
MIRT1231183	hsa-miR-30c	CLIP-seq
MIRT1231184	hsa-miR-30d	CLIP-seq
MIRT1231185	hsa-miR-30e	CLIP-seq
MIRT1231186	hsa-miR-3121-5p	CLIP-seq
MIRT2295299	hsa-miR-3122	CLIP-seq
MIRT2295300	hsa-miR-3125	CLIP-seq
MIRT2067856	hsa-miR-3143	CLIP-seq
MIRT2295301	hsa-miR-3149	CLIP-seq
MIRT2295302	hsa-miR-3157-5p	CLIP-seq
MIRT1231193	hsa-miR-3171	CLIP-seq
MIRT1231194	hsa-miR-320a	CLIP-seq
MIRT1231195	hsa-miR-320b	CLIP-seq
MIRT1231196	hsa-miR-320c	CLIP-seq
MIRT1231197	hsa-miR-320d	CLIP-seq
MIRT1231198	hsa-miR-320e	CLIP-seq
MIRT1231200	hsa-miR-34c-3p	CLIP-seq
MIRT1231201	hsa-miR-3646	CLIP-seq
MIRT1231202	hsa-miR-3647-3p	CLIP-seq
MIRT2067861	hsa-miR-3662	CLIP-seq
MIRT2067862	hsa-miR-3682-5p	CLIP-seq
MIRT2295303	hsa-miR-3689a-3p	CLIP-seq
MIRT2295304	hsa-miR-3689c	CLIP-seq
MIRT2067863	hsa-miR-375	CLIP-seq
MIRT2295305	hsa-miR-3913-5p	CLIP-seq
MIRT2295306	hsa-miR-3916	CLIP-seq
MIRT2067865	hsa-miR-3920	CLIP-seq
MIRT2295307	hsa-miR-3928	CLIP-seq
MIRT2295308	hsa-miR-3972	CLIP-seq
MIRT1231207	hsa-miR-410	CLIP-seq
MIRT1231210	hsa-miR-4302	CLIP-seq
MIRT1231211	hsa-miR-4305	CLIP-seq
MIRT2295309	hsa-miR-4325	CLIP-seq
MIRT1231212	hsa-miR-4429	CLIP-seq
MIRT2295310	hsa-miR-4434	CLIP-seq
MIRT2295311	hsa-miR-4445	CLIP-seq
MIRT1231213	hsa-miR-4453	CLIP-seq
MIRT2067870	hsa-miR-4465	CLIP-seq
MIRT1231217	hsa-miR-4495	CLIP-seq
MIRT2295312	hsa-miR-4516	CLIP-seq
MIRT1231218	hsa-miR-4538	CLIP-seq
MIRT2295313	hsa-miR-455-3p	CLIP-seq
MIRT2295314	hsa-miR-4662a-5p	CLIP-seq
MIRT1231223	hsa-miR-4668-3p	CLIP-seq
MIRT2067871	hsa-miR-4672	CLIP-seq
MIRT2295315	hsa-miR-4691-3p	CLIP-seq
MIRT2295316	hsa-miR-4705	CLIP-seq
MIRT2067873	hsa-miR-4762-3p	CLIP-seq
MIRT1231226	hsa-miR-4776-3p	CLIP-seq
MIRT2295317	hsa-miR-4777-5p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT1231231	hsa-miR-501-5p	CLIP-seq
MIRT2295318	hsa-miR-502-5p	CLIP-seq
MIRT2295319	hsa-miR-539	CLIP-seq
MIRT2067879	hsa-miR-543	CLIP-seq
MIRT2295320	hsa-miR-548k	CLIP-seq
MIRT2295321	hsa-miR-555	CLIP-seq
MIRT2067882	hsa-miR-590-5p	CLIP-seq
MIRT2295322	hsa-miR-607	CLIP-seq
MIRT1231242	hsa-miR-873	CLIP-seq
MIRT2295323	hsa-miR-922	CLIP-seq
MIRT2067850	hsa-miR-1297	CLIP-seq
MIRT2456377	hsa-miR-1913	CLIP-seq
MIRT2067853	hsa-miR-26a	CLIP-seq
MIRT2067854	hsa-miR-26b	CLIP-seq
MIRT2295301	hsa-miR-3149	CLIP-seq
MIRT2456378	hsa-miR-324-3p	CLIP-seq
MIRT2456379	hsa-miR-361-3p	CLIP-seq
MIRT2456380	hsa-miR-3688-3p	CLIP-seq
MIRT2456381	hsa-miR-3689d	CLIP-seq
MIRT2067863	hsa-miR-375	CLIP-seq
MIRT2067864	hsa-miR-377	CLIP-seq
MIRT2456382	hsa-miR-3978	CLIP-seq
MIRT2456383	hsa-miR-4313	CLIP-seq
MIRT2067870	hsa-miR-4465	CLIP-seq
MIRT2456384	hsa-miR-4640-3p	CLIP-seq
MIRT2067871	hsa-miR-4672	CLIP-seq
MIRT2456385	hsa-miR-4802-3p	CLIP-seq
MIRT2456386	hsa-miR-568	CLIP-seq
MIRT2456380	hsa-miR-3688-3p	CLIP-seq
MIRT2456381	hsa-miR-3689d	CLIP-seq
MIRT2456382	hsa-miR-3978	CLIP-seq
MIRT2456385	hsa-miR-4802-3p	CLIP-seq
MIRT1231167	hsa-miR-124	CLIP-seq
MIRT2592894	hsa-miR-1246	CLIP-seq
MIRT2067849	hsa-miR-1284	CLIP-seq
MIRT2067850	hsa-miR-1297	CLIP-seq
MIRT2592895	hsa-miR-1323	CLIP-seq
MIRT1231171	hsa-miR-139-5p	CLIP-seq
MIRT2592896	hsa-miR-140-5p	CLIP-seq
MIRT2592897	hsa-miR-142-5p	CLIP-seq
MIRT2295295	hsa-miR-1910	CLIP-seq
MIRT2592898	hsa-miR-193a-3p	CLIP-seq
MIRT2592899	hsa-miR-193b	CLIP-seq
MIRT2295298	hsa-miR-198	CLIP-seq
MIRT2592900	hsa-miR-200b	CLIP-seq
MIRT2592901	hsa-miR-200c	CLIP-seq
MIRT2592902	hsa-miR-2115	CLIP-seq
MIRT1920767	hsa-miR-2277-3p	CLIP-seq
MIRT2067853	hsa-miR-26a	CLIP-seq
MIRT2067854	hsa-miR-26b	CLIP-seq
MIRT2592903	hsa-miR-302f	CLIP-seq
MIRT2067855	hsa-miR-3117-5p	CLIP-seq
MIRT1231186	hsa-miR-3121-5p	CLIP-seq
MIRT1231187	hsa-miR-3124-3p	CLIP-seq
MIRT2592904	hsa-miR-3136-5p	CLIP-seq
MIRT2067856	hsa-miR-3143	CLIP-seq
MIRT2592905	hsa-miR-3144-3p	CLIP-seq
MIRT1231192	hsa-miR-3160-5p	CLIP-seq
MIRT2592906	hsa-miR-3187-3p	CLIP-seq
MIRT2592907	hsa-miR-3200-3p	CLIP-seq
MIRT2592908	hsa-miR-3200-5p	CLIP-seq
MIRT2592909	hsa-miR-33a	CLIP-seq
MIRT2592910	hsa-miR-33b	CLIP-seq
MIRT2592911	hsa-miR-3545-3p	CLIP-seq
MIRT2592912	hsa-miR-3545-5p	CLIP-seq
MIRT2592913	hsa-miR-3591-3p	CLIP-seq
MIRT2592914	hsa-miR-3622b-5p	CLIP-seq
MIRT1231202	hsa-miR-3647-3p	CLIP-seq
MIRT2592915	hsa-miR-3675-3p	CLIP-seq
MIRT2067862	hsa-miR-3682-5p	CLIP-seq
MIRT2592916	hsa-miR-3685	CLIP-seq
MIRT1231203	hsa-miR-3714	CLIP-seq
MIRT2067863	hsa-miR-375	CLIP-seq
MIRT2067864	hsa-miR-377	CLIP-seq
MIRT2592917	hsa-miR-384	CLIP-seq
MIRT1231204	hsa-miR-3910	CLIP-seq
MIRT2067865	hsa-miR-3920	CLIP-seq
MIRT1231206	hsa-miR-3977	CLIP-seq
MIRT1231207	hsa-miR-410	CLIP-seq
MIRT2592918	hsa-miR-4255	CLIP-seq
MIRT1231208	hsa-miR-4263	CLIP-seq
MIRT1231209	hsa-miR-4282	CLIP-seq
MIRT2592919	hsa-miR-429	CLIP-seq
MIRT2592920	hsa-miR-4303	CLIP-seq
MIRT2592921	hsa-miR-4436b-3p	CLIP-seq
MIRT2592922	hsa-miR-4439	CLIP-seq
MIRT2592923	hsa-miR-4460	CLIP-seq
MIRT2067870	hsa-miR-4465	CLIP-seq
MIRT1231216	hsa-miR-4490	CLIP-seq
MIRT2592924	hsa-miR-452	CLIP-seq
MIRT2592925	hsa-miR-4529-5p	CLIP-seq
MIRT2295313	hsa-miR-455-3p	CLIP-seq
MIRT2456384	hsa-miR-4640-3p	CLIP-seq
MIRT2067871	hsa-miR-4672	CLIP-seq
MIRT2592926	hsa-miR-4676-3p	CLIP-seq
MIRT2592927	hsa-miR-4680-5p	CLIP-seq
MIRT2592928	hsa-miR-4707-5p	CLIP-seq
MIRT2592929	hsa-miR-4715-3p	CLIP-seq
MIRT2592930	hsa-miR-4719	CLIP-seq
MIRT2592931	hsa-miR-4738-3p	CLIP-seq
MIRT2592932	hsa-miR-4761-3p	CLIP-seq
MIRT2067873	hsa-miR-4762-3p	CLIP-seq
MIRT2592933	hsa-miR-4766-5p	CLIP-seq
MIRT2592934	hsa-miR-4773	CLIP-seq
MIRT1231225	hsa-miR-4774-5p	CLIP-seq
MIRT2067874	hsa-miR-4789-5p	CLIP-seq
MIRT1231227	hsa-miR-4799-5p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT2067875	hsa-miR-496	CLIP-seq
MIRT1231232	hsa-miR-506	CLIP-seq
MIRT2592935	hsa-miR-516a-3p	CLIP-seq
MIRT2592936	hsa-miR-526b	CLIP-seq
MIRT2067879	hsa-miR-543	CLIP-seq
MIRT1231234	hsa-miR-548a-3p	CLIP-seq
MIRT2592937	hsa-miR-548a-5p	CLIP-seq
MIRT2592938	hsa-miR-548ab	CLIP-seq
MIRT2592939	hsa-miR-548ak	CLIP-seq
MIRT2592940	hsa-miR-548b-5p	CLIP-seq
MIRT2592941	hsa-miR-548c-3p	CLIP-seq
MIRT2592942	hsa-miR-548c-5p	CLIP-seq
MIRT2592943	hsa-miR-548d-5p	CLIP-seq
MIRT1231235	hsa-miR-548e	CLIP-seq
MIRT1231236	hsa-miR-548f	CLIP-seq
MIRT2592944	hsa-miR-548g	CLIP-seq
MIRT2592945	hsa-miR-548h	CLIP-seq
MIRT2592946	hsa-miR-548i	CLIP-seq
MIRT2592947	hsa-miR-548j	CLIP-seq
MIRT2592948	hsa-miR-548n	CLIP-seq
MIRT2592949	hsa-miR-548o	CLIP-seq
MIRT2592950	hsa-miR-548w	CLIP-seq
MIRT2592951	hsa-miR-548y	CLIP-seq
MIRT2592952	hsa-miR-559	CLIP-seq
MIRT2592953	hsa-miR-561	CLIP-seq
MIRT2067880	hsa-miR-570	CLIP-seq
MIRT1231237	hsa-miR-576-5p	CLIP-seq
MIRT1231239	hsa-miR-586	CLIP-seq
MIRT2592954	hsa-miR-601	CLIP-seq
MIRT2592955	hsa-miR-633	CLIP-seq
MIRT2592956	hsa-miR-654-3p	CLIP-seq
MIRT2592957	hsa-miR-875-5p	CLIP-seq
MIRT2592958	hsa-miR-889	CLIP-seq
MIRT2295323	hsa-miR-922	CLIP-seq
MIRT2592959	hsa-miR-943	CLIP-seq
MIRT2592960	hsa-miR-944	CLIP-seq
MIRT1231165	hsa-miR-101	CLIP-seq
MIRT1231167	hsa-miR-124	CLIP-seq
MIRT2592894	hsa-miR-1246	CLIP-seq
MIRT2067849	hsa-miR-1284	CLIP-seq
MIRT2067850	hsa-miR-1297	CLIP-seq
MIRT2592895	hsa-miR-1323	CLIP-seq
MIRT1231171	hsa-miR-139-5p	CLIP-seq
MIRT1231172	hsa-miR-144	CLIP-seq
MIRT2592898	hsa-miR-193a-3p	CLIP-seq
MIRT2592899	hsa-miR-193b	CLIP-seq
MIRT1231176	hsa-miR-203	CLIP-seq
MIRT2592902	hsa-miR-2115	CLIP-seq
MIRT1920767	hsa-miR-2277-3p	CLIP-seq
MIRT2067853	hsa-miR-26a	CLIP-seq
MIRT2067854	hsa-miR-26b	CLIP-seq
MIRT2592903	hsa-miR-302f	CLIP-seq
MIRT2067855	hsa-miR-3117-5p	CLIP-seq
MIRT1231186	hsa-miR-3121-5p	CLIP-seq
MIRT1231187	hsa-miR-3124-3p	CLIP-seq
MIRT2592904	hsa-miR-3136-5p	CLIP-seq
MIRT2067856	hsa-miR-3143	CLIP-seq
MIRT2592905	hsa-miR-3144-3p	CLIP-seq
MIRT1231192	hsa-miR-3160-5p	CLIP-seq
MIRT2687844	hsa-miR-3163	CLIP-seq
MIRT2592906	hsa-miR-3187-3p	CLIP-seq
MIRT2592907	hsa-miR-3200-3p	CLIP-seq
MIRT2592908	hsa-miR-3200-5p	CLIP-seq
MIRT2592909	hsa-miR-33a	CLIP-seq
MIRT2592910	hsa-miR-33b	CLIP-seq
MIRT2592911	hsa-miR-3545-3p	CLIP-seq
MIRT2592914	hsa-miR-3622b-5p	CLIP-seq
MIRT1231202	hsa-miR-3647-3p	CLIP-seq
MIRT2067861	hsa-miR-3662	CLIP-seq
MIRT2592915	hsa-miR-3675-3p	CLIP-seq
MIRT2067862	hsa-miR-3682-5p	CLIP-seq
MIRT2592916	hsa-miR-3685	CLIP-seq
MIRT1231203	hsa-miR-3714	CLIP-seq
MIRT2067863	hsa-miR-375	CLIP-seq
MIRT2067864	hsa-miR-377	CLIP-seq
MIRT2592917	hsa-miR-384	CLIP-seq
MIRT1231204	hsa-miR-3910	CLIP-seq
MIRT2067865	hsa-miR-3920	CLIP-seq
MIRT1231206	hsa-miR-3977	CLIP-seq
MIRT1231207	hsa-miR-410	CLIP-seq
MIRT2592918	hsa-miR-4255	CLIP-seq
MIRT1231209	hsa-miR-4282	CLIP-seq
MIRT2592920	hsa-miR-4303	CLIP-seq
MIRT2592922	hsa-miR-4439	CLIP-seq
MIRT2067870	hsa-miR-4465	CLIP-seq
MIRT1231216	hsa-miR-4490	CLIP-seq
MIRT2592925	hsa-miR-4529-5p	CLIP-seq
MIRT2687845	hsa-miR-4635	CLIP-seq
MIRT2456384	hsa-miR-4640-3p	CLIP-seq
MIRT2067871	hsa-miR-4672	CLIP-seq
MIRT2592927	hsa-miR-4680-5p	CLIP-seq
MIRT2592928	hsa-miR-4707-5p	CLIP-seq
MIRT2592929	hsa-miR-4715-3p	CLIP-seq
MIRT2592931	hsa-miR-4738-3p	CLIP-seq
MIRT2067873	hsa-miR-4762-3p	CLIP-seq
MIRT2592933	hsa-miR-4766-5p	CLIP-seq
MIRT2592934	hsa-miR-4773	CLIP-seq
MIRT1231225	hsa-miR-4774-5p	CLIP-seq
MIRT2067874	hsa-miR-4789-5p	CLIP-seq
MIRT1231227	hsa-miR-4799-5p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT2067875	hsa-miR-496	CLIP-seq
MIRT1231232	hsa-miR-506	CLIP-seq
MIRT2592935	hsa-miR-516a-3p	CLIP-seq
MIRT2592936	hsa-miR-526b	CLIP-seq
MIRT2067879	hsa-miR-543	CLIP-seq
MIRT1231234	hsa-miR-548a-3p	CLIP-seq
MIRT1231235	hsa-miR-548e	CLIP-seq
MIRT1231236	hsa-miR-548f	CLIP-seq
MIRT2592944	hsa-miR-548g	CLIP-seq
MIRT2592949	hsa-miR-548o	CLIP-seq
MIRT1231238	hsa-miR-582-5p	CLIP-seq
MIRT1231239	hsa-miR-586	CLIP-seq
MIRT2592954	hsa-miR-601	CLIP-seq
MIRT2592955	hsa-miR-633	CLIP-seq
MIRT2592956	hsa-miR-654-3p	CLIP-seq
MIRT2592957	hsa-miR-875-5p	CLIP-seq
MIRT2592958	hsa-miR-889	CLIP-seq
MIRT2295323	hsa-miR-922	CLIP-seq
MIRT2592959	hsa-miR-943	CLIP-seq
MIRT2592960	hsa-miR-944	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	24554700
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	22720776
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	22720776
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	22720776
GO:0005730	Component	Nucleolus	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0015631	Function	Tubulin binding	IPI	22720776
GO:0019899	Function	Enzyme binding	IPI	22720776
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IPI	22720776
GO:0042826	Function	Histone deacetylase binding	IBA
GO:0042826	Function	Histone deacetylase binding	IPI	22720776
GO:0043021	Function	Ribonucleoprotein complex binding	IPI	22720776
GO:0046872	Function	Metal ion binding	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	22720776
GO:0097110	Function	Scaffold protein binding	IPI	22720776

MIM	HGNC	e!Ensembl
300414	18145	ENSG00000156531

Q8IWS0

Protein name

PHD finger protein 6 (PHD-like zinc finger protein)

Protein function

Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.

PDB

4NN2 , 4R7A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13771	zf-HC5HC2H	42 → 132		Domain
PF13771	zf-HC5HC2H	239 → 330		Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12415272}.

Sequence

MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNE
SLGGFSIEDVQKEIKRGTKLMCSLCHCPGATIGCDVKTCHRTYHYHCALHDKAQIREKPS
QGIYMVYCRKHKKTAHNSEADLEESFNEHELEPSSPKSKKKSRKGRPRKTNFKGLSEDTR
STSSHGTDEMESSSYRDRSPHRSSPSDTRPKCGFCHVGEEENEARGKLHIFNAKKAAAHY
KCMLFSSGTVQLTTTSRAEFGDFDIKTVLQEIKRGKRMKCTLCSQPGATIGCEIKACVKT
YHYHCGVQDKAKYIENMSRGIYKLYCKNHSGNDERDEEDEERESKSRGKVEIDQQQLTQQ
QLNGN

Sequence length

365

Interactions

View interactions

	KEGG
	ATP-dependent chromatin remodeling

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

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Borjeson-Forssman-Lehmann syndrome	Pathogenic; Likely pathogenic	rs770811341, rs2124252847, rs587777489, rs2520644434, rs864309532, rs2520543281, rs1114167289, rs2520470317, rs2077467203, rs132630297, rs132630298, rs104894917, rs132630299, rs104894918, rs132630300 View all (16 more)	RCV001775393 RCV001782610 RCV000128447 RCV002291089 RCV000202613 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spastic paraplegia 4	Pathogenic	rs132630300	RCV002286694	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirsutism	Pathogenic	rs758791658	RCV001261281	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs132630297, rs2077504269, rs758791658	RCV005251034 RCV001257662 RCV001261281	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs2077467203, rs758474623, rs2520470293, rs2520543764	RCV005930792 RCV005936763 RCV005937410 RCV005939492	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONGENITAL FUSION OF RIBS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PENIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEART FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PHF6-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (97)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	21736506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	31000771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	21736506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	21030981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34209408, 34375027, 34838590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31282646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	36999477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	27602765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	BEFREE	12415272, 14714754, 14756673, 15580208, 15994862, 17698420, 19161141, 19264739, 20806366, 24092917, 24380767, 24554700, 25081545, 25601084, 27633282 View all (4 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	CLINVAR_DG	12415272, 15994862, 27633282		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	CLINGEN_DG	12415272, 15241480, 15466013, 15994862, 22720776, 23791194, 23906836		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	UNIPROT_DG	12415272, 23229552, 23906836		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	ORPHANET_DG	12415272, 23229552		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	GENOMICS_ENGLAND_DG	15466013		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	BEFREE	24380767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	BEFREE	24380767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	24092917, 24380767, 25099957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	33149206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26561469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28675510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30630810	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31282646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12415272, 13871358, 14756673, 24092917, 27094817, 27633282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34859848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36756714	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25081545, 28237832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	26561469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	35662002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24919120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24919120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24919120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gynecomastia	Gynecomastia	BEFREE	12415272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	21736506, 30917958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	25737277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	25737277, 26561469, 30755422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17698420, 24092917, 24380767, 25099957, 27633282, 30403997		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	28539120, 35662002	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
leukemia	Leukemia	BEFREE	20228800, 24895337, 25737277, 30118183, 30755422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20228800, 25737277, 30551478, 35338774, 38429501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21880637, 22417203, 23229552, 25601084, 27050425, 27165002, 30737482, 31000771, 32732356, 37088137	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21030981, 21736506, 21880637, 24554700, 24674452, 25601084, 27022003, 29441563, 30083851, 30737482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21736506, 31329335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20806366, 21736506, 25737277, 26561469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	28675510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	17698420, 20806366, 24554700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmia syndromic 7	Microphthalmia	Pubtator	35662002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12415272, 13871358, 14756673, 24092917, 27094817, 27633282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	30118183		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24674452, 30083851, 30118183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20228800, 21030981, 24674452, 24895337, 26561469, 28675510, 30917958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27255602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33571490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30403997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	Pubtator	35797671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17698420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	21736506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	21736506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	20228800, 20806366, 21030981, 21736506, 21880637, 24554700, 24895337, 29441563, 30551478, 31270080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	GENOMICS_ENGLAND_DG	20228800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	20228800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	12415272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	36999477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20806366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	31661961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33537816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PHF6 (PHD finger protein 6)