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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	2332
Gene name	Fragile X messenger ribonucleoprotein 1
Gene symbol	FMR1
Synonyms (NCBI Gene)	FMRPFRAXAPOFPOF1
Chromosome	X
Chromosome location	Xq27.3
Summary	The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5` UTR is normally found at 6-53 copies, but an exp

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121434622	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041088	A>C,G,T	Pathogenic	Intron variant
rs886041089	G>A	Pathogenic	Splice donor variant
rs1057518038	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057518850	A>G	Likely-pathogenic	Splice acceptor variant
rs1557176576	GG>TA	Pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant
rs1569545382	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1569545562	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569545763	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT007375	hsa-miR-101-3p	Luciferase reporter assay	23390134
MIRT007376	hsa-miR-129-5p	Luciferase reporter assay	23390134
MIRT007377	hsa-miR-221-3p	Luciferase reporter assay	23390134
MIRT030988	hsa-miR-21-5p	Microarray	18591254
MIRT109112	hsa-miR-130b-3p	Luciferase reporter assayqRT-PCRWestern blot	24021279
MIRT109112	hsa-miR-130b-3p	Luciferase reporter assayqRT-PCRWestern blot	24021279
MIRT175699	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT175699	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT734698	hsa-miR-301b-3p	qRT-PCR	31484947
MIRT736366	hsa-miR-139-5p	Microarray	33426406
MIRT755633	hsa-miR-323a-3p	MicroarrayqRT-PCR	35351128
MIRT999764	hsa-miR-1227	CLIP-seq
MIRT999765	hsa-miR-1267	CLIP-seq
MIRT999766	hsa-miR-1284	CLIP-seq
MIRT999767	hsa-miR-1305	CLIP-seq
MIRT999768	hsa-miR-141	CLIP-seq
MIRT999769	hsa-miR-146b-3p	CLIP-seq
MIRT999770	hsa-miR-153	CLIP-seq
MIRT999771	hsa-miR-181a	CLIP-seq
MIRT999772	hsa-miR-181b	CLIP-seq
MIRT999773	hsa-miR-181c	CLIP-seq
MIRT999774	hsa-miR-181d	CLIP-seq
MIRT999775	hsa-miR-1914	CLIP-seq
MIRT999776	hsa-miR-1976	CLIP-seq
MIRT999777	hsa-miR-200a	CLIP-seq
MIRT999778	hsa-miR-23a	CLIP-seq
MIRT999779	hsa-miR-23b	CLIP-seq
MIRT999780	hsa-miR-23c	CLIP-seq
MIRT999781	hsa-miR-25	CLIP-seq
MIRT999782	hsa-miR-3123	CLIP-seq
MIRT999783	hsa-miR-3163	CLIP-seq
MIRT999784	hsa-miR-3173-5p	CLIP-seq
MIRT999785	hsa-miR-32	CLIP-seq
MIRT999786	hsa-miR-363	CLIP-seq
MIRT999787	hsa-miR-367	CLIP-seq
MIRT999788	hsa-miR-3671	CLIP-seq
MIRT999789	hsa-miR-3919	CLIP-seq
MIRT999790	hsa-miR-3941	CLIP-seq
MIRT999791	hsa-miR-4262	CLIP-seq
MIRT999792	hsa-miR-4263	CLIP-seq
MIRT999793	hsa-miR-4276	CLIP-seq
MIRT999794	hsa-miR-4279	CLIP-seq
MIRT999795	hsa-miR-4325	CLIP-seq
MIRT999796	hsa-miR-4327	CLIP-seq
MIRT999797	hsa-miR-4328	CLIP-seq
MIRT999798	hsa-miR-4421	CLIP-seq
MIRT999799	hsa-miR-4427	CLIP-seq
MIRT999800	hsa-miR-4474-5p	CLIP-seq
MIRT999801	hsa-miR-448	CLIP-seq
MIRT999802	hsa-miR-4503	CLIP-seq
MIRT999803	hsa-miR-4517	CLIP-seq
MIRT999804	hsa-miR-4643	CLIP-seq
MIRT999805	hsa-miR-4659a-3p	CLIP-seq
MIRT999806	hsa-miR-4659b-3p	CLIP-seq
MIRT999807	hsa-miR-466	CLIP-seq
MIRT999808	hsa-miR-4668-3p	CLIP-seq
MIRT999809	hsa-miR-4672	CLIP-seq
MIRT999810	hsa-miR-4774-3p	CLIP-seq
MIRT999811	hsa-miR-4789-3p	CLIP-seq
MIRT999812	hsa-miR-4796-5p	CLIP-seq
MIRT999813	hsa-miR-4797-5p	CLIP-seq
MIRT999814	hsa-miR-4803	CLIP-seq
MIRT999815	hsa-miR-495	CLIP-seq
MIRT999816	hsa-miR-511	CLIP-seq
MIRT999817	hsa-miR-561	CLIP-seq
MIRT999818	hsa-miR-576-5p	CLIP-seq
MIRT999819	hsa-miR-607	CLIP-seq
MIRT999820	hsa-miR-628-5p	CLIP-seq
MIRT999821	hsa-miR-760	CLIP-seq
MIRT999822	hsa-miR-874	CLIP-seq
MIRT999823	hsa-miR-9	CLIP-seq
MIRT999824	hsa-miR-92a	CLIP-seq
MIRT999825	hsa-miR-92b	CLIP-seq
MIRT999826	hsa-miR-942	CLIP-seq
MIRT999827	hsa-miR-132	CLIP-seq
MIRT999828	hsa-miR-194	CLIP-seq
MIRT999829	hsa-miR-212	CLIP-seq
MIRT999830	hsa-miR-3127-5p	CLIP-seq
MIRT999831	hsa-miR-3148	CLIP-seq
MIRT999832	hsa-miR-3647-3p	CLIP-seq
MIRT999833	hsa-miR-3653	CLIP-seq
MIRT999834	hsa-miR-3658	CLIP-seq
MIRT999835	hsa-miR-3662	CLIP-seq
MIRT999836	hsa-miR-3688-3p	CLIP-seq
MIRT999837	hsa-miR-377	CLIP-seq
MIRT999838	hsa-miR-3978	CLIP-seq
MIRT999839	hsa-miR-4422	CLIP-seq
MIRT999840	hsa-miR-4653-3p	CLIP-seq
MIRT999841	hsa-miR-499-3p	CLIP-seq
MIRT999842	hsa-miR-499a-3p	CLIP-seq
MIRT999843	hsa-miR-935	CLIP-seq
MIRT1996337	hsa-miR-1179	CLIP-seq
MIRT1996338	hsa-miR-1245b-3p	CLIP-seq
MIRT999766	hsa-miR-1284	CLIP-seq
MIRT999828	hsa-miR-194	CLIP-seq
MIRT1996339	hsa-miR-203	CLIP-seq
MIRT999830	hsa-miR-3127-5p	CLIP-seq
MIRT999837	hsa-miR-377	CLIP-seq
MIRT999793	hsa-miR-4276	CLIP-seq
MIRT1996340	hsa-miR-433	CLIP-seq
MIRT1996341	hsa-miR-4436a	CLIP-seq
MIRT999803	hsa-miR-4517	CLIP-seq
MIRT1996342	hsa-miR-4700-3p	CLIP-seq
MIRT999841	hsa-miR-499-3p	CLIP-seq
MIRT999842	hsa-miR-499a-3p	CLIP-seq
MIRT1996343	hsa-miR-548k	CLIP-seq
MIRT1996344	hsa-miR-642b	CLIP-seq
MIRT1996345	hsa-miR-570	CLIP-seq
MIRT999766	hsa-miR-1284	CLIP-seq
MIRT2230286	hsa-miR-130a	CLIP-seq
MIRT2230287	hsa-miR-130b	CLIP-seq
MIRT2230288	hsa-miR-148a	CLIP-seq
MIRT2230289	hsa-miR-148b	CLIP-seq
MIRT2230290	hsa-miR-152	CLIP-seq
MIRT2230291	hsa-miR-2278	CLIP-seq
MIRT2230292	hsa-miR-301a	CLIP-seq
MIRT2230293	hsa-miR-301b	CLIP-seq
MIRT2230294	hsa-miR-302a	CLIP-seq
MIRT2230295	hsa-miR-302b	CLIP-seq
MIRT2230296	hsa-miR-302c	CLIP-seq
MIRT2230297	hsa-miR-302d	CLIP-seq
MIRT2230298	hsa-miR-302e	CLIP-seq
MIRT2230299	hsa-miR-3666	CLIP-seq
MIRT2230300	hsa-miR-372	CLIP-seq
MIRT2230301	hsa-miR-373	CLIP-seq
MIRT2230302	hsa-miR-4295	CLIP-seq
MIRT2230303	hsa-miR-454	CLIP-seq
MIRT2230304	hsa-miR-520a-3p	CLIP-seq
MIRT2230305	hsa-miR-520b	CLIP-seq
MIRT2230306	hsa-miR-520c-3p	CLIP-seq
MIRT2230307	hsa-miR-520d-3p	CLIP-seq
MIRT2230308	hsa-miR-520e	CLIP-seq
MIRT2230309	hsa-miR-548a-5p	CLIP-seq
MIRT2230310	hsa-miR-548ab	CLIP-seq
MIRT2230311	hsa-miR-548ak	CLIP-seq
MIRT2230312	hsa-miR-548b-5p	CLIP-seq
MIRT2230313	hsa-miR-548c-5p	CLIP-seq
MIRT2230314	hsa-miR-548d-5p	CLIP-seq
MIRT2230315	hsa-miR-548h	CLIP-seq
MIRT2230316	hsa-miR-548i	CLIP-seq
MIRT2230317	hsa-miR-548j	CLIP-seq
MIRT1996343	hsa-miR-548k	CLIP-seq
MIRT2230318	hsa-miR-548l	CLIP-seq
MIRT2230319	hsa-miR-548w	CLIP-seq
MIRT2230320	hsa-miR-548y	CLIP-seq
MIRT2230321	hsa-miR-559	CLIP-seq
MIRT999819	hsa-miR-607	CLIP-seq
MIRT999843	hsa-miR-935	CLIP-seq
MIRT1996337	hsa-miR-1179	CLIP-seq
MIRT1996338	hsa-miR-1245b-3p	CLIP-seq
MIRT999766	hsa-miR-1284	CLIP-seq
MIRT2230322	hsa-miR-19a	CLIP-seq
MIRT2230323	hsa-miR-19b	CLIP-seq
MIRT1996339	hsa-miR-203	CLIP-seq
MIRT2230324	hsa-miR-3545-3p	CLIP-seq
MIRT1996340	hsa-miR-433	CLIP-seq
MIRT999803	hsa-miR-4517	CLIP-seq
MIRT2230325	hsa-miR-4708-3p	CLIP-seq
MIRT999841	hsa-miR-499-3p	CLIP-seq
MIRT999842	hsa-miR-499a-3p	CLIP-seq
MIRT2230326	hsa-miR-548aa	CLIP-seq
MIRT1996345	hsa-miR-570	CLIP-seq
MIRT2230327	hsa-miR-600	CLIP-seq
MIRT2534134	hsa-miR-101	CLIP-seq
MIRT1996337	hsa-miR-1179	CLIP-seq
MIRT2534135	hsa-miR-1238	CLIP-seq
MIRT2534136	hsa-miR-125a-5p	CLIP-seq
MIRT2534137	hsa-miR-125b	CLIP-seq
MIRT2534138	hsa-miR-1263	CLIP-seq
MIRT999765	hsa-miR-1267	CLIP-seq
MIRT999766	hsa-miR-1284	CLIP-seq
MIRT2534139	hsa-miR-1286	CLIP-seq
MIRT2534140	hsa-miR-144	CLIP-seq
MIRT999769	hsa-miR-146b-3p	CLIP-seq
MIRT999770	hsa-miR-153	CLIP-seq
MIRT2534141	hsa-miR-1827	CLIP-seq
MIRT2534142	hsa-miR-186	CLIP-seq
MIRT2534143	hsa-miR-1913	CLIP-seq
MIRT1996339	hsa-miR-203	CLIP-seq
MIRT2534144	hsa-miR-205	CLIP-seq
MIRT2534145	hsa-miR-221	CLIP-seq
MIRT2534146	hsa-miR-222	CLIP-seq
MIRT2230291	hsa-miR-2278	CLIP-seq
MIRT999778	hsa-miR-23a	CLIP-seq
MIRT999779	hsa-miR-23b	CLIP-seq
MIRT999780	hsa-miR-23c	CLIP-seq
MIRT999781	hsa-miR-25	CLIP-seq
MIRT999782	hsa-miR-3123	CLIP-seq
MIRT2534147	hsa-miR-3143	CLIP-seq
MIRT999783	hsa-miR-3163	CLIP-seq
MIRT999784	hsa-miR-3173-5p	CLIP-seq
MIRT999785	hsa-miR-32	CLIP-seq
MIRT2534148	hsa-miR-3200-3p	CLIP-seq
MIRT2534149	hsa-miR-323-3p	CLIP-seq
MIRT2534150	hsa-miR-324-3p	CLIP-seq
MIRT2534151	hsa-miR-335	CLIP-seq
MIRT2534152	hsa-miR-34c-3p	CLIP-seq
MIRT2534153	hsa-miR-3591-5p	CLIP-seq
MIRT999786	hsa-miR-363	CLIP-seq
MIRT999833	hsa-miR-3653	CLIP-seq
MIRT999834	hsa-miR-3658	CLIP-seq
MIRT999787	hsa-miR-367	CLIP-seq
MIRT999789	hsa-miR-3919	CLIP-seq
MIRT2534154	hsa-miR-3974	CLIP-seq
MIRT2534155	hsa-miR-410	CLIP-seq
MIRT2534156	hsa-miR-4255	CLIP-seq
MIRT2534157	hsa-miR-4257	CLIP-seq
MIRT999793	hsa-miR-4276	CLIP-seq
MIRT2534158	hsa-miR-4319	CLIP-seq
MIRT999795	hsa-miR-4325	CLIP-seq
MIRT999796	hsa-miR-4327	CLIP-seq
MIRT999797	hsa-miR-4328	CLIP-seq
MIRT1996340	hsa-miR-433	CLIP-seq
MIRT1996341	hsa-miR-4436a	CLIP-seq
MIRT999801	hsa-miR-448	CLIP-seq
MIRT999803	hsa-miR-4517	CLIP-seq
MIRT2534159	hsa-miR-4539	CLIP-seq
MIRT999840	hsa-miR-4653-3p	CLIP-seq
MIRT999808	hsa-miR-4668-3p	CLIP-seq
MIRT2534160	hsa-miR-4680-5p	CLIP-seq
MIRT1996342	hsa-miR-4700-3p	CLIP-seq
MIRT2534161	hsa-miR-4719	CLIP-seq
MIRT2534162	hsa-miR-4722-5p	CLIP-seq
MIRT2534163	hsa-miR-4732-3p	CLIP-seq
MIRT2534164	hsa-miR-4738-3p	CLIP-seq
MIRT2534165	hsa-miR-4797-3p	CLIP-seq
MIRT999813	hsa-miR-4797-5p	CLIP-seq
MIRT999814	hsa-miR-4803	CLIP-seq
MIRT2534166	hsa-miR-493	CLIP-seq
MIRT999815	hsa-miR-495	CLIP-seq
MIRT999841	hsa-miR-499-3p	CLIP-seq
MIRT999842	hsa-miR-499a-3p	CLIP-seq
MIRT2534167	hsa-miR-505	CLIP-seq
MIRT2534168	hsa-miR-522	CLIP-seq
MIRT2534169	hsa-miR-543	CLIP-seq
MIRT2534170	hsa-miR-548a-3p	CLIP-seq
MIRT2534171	hsa-miR-548e	CLIP-seq
MIRT2534172	hsa-miR-548f	CLIP-seq
MIRT2534173	hsa-miR-548v	CLIP-seq
MIRT1996345	hsa-miR-570	CLIP-seq
MIRT2534174	hsa-miR-624	CLIP-seq
MIRT1996344	hsa-miR-642b	CLIP-seq
MIRT2534175	hsa-miR-670	CLIP-seq
MIRT999821	hsa-miR-760	CLIP-seq
MIRT2534176	hsa-miR-767-3p	CLIP-seq
MIRT999822	hsa-miR-874	CLIP-seq
MIRT999824	hsa-miR-92a	CLIP-seq
MIRT999825	hsa-miR-92b	CLIP-seq
MIRT999843	hsa-miR-935	CLIP-seq
MIRT2534177	hsa-miR-944	CLIP-seq
MIRT1996337	hsa-miR-1179	CLIP-seq
MIRT999765	hsa-miR-1267	CLIP-seq
MIRT999770	hsa-miR-153	CLIP-seq
MIRT1996339	hsa-miR-203	CLIP-seq
MIRT2230291	hsa-miR-2278	CLIP-seq
MIRT999781	hsa-miR-25	CLIP-seq
MIRT999782	hsa-miR-3123	CLIP-seq
MIRT2534147	hsa-miR-3143	CLIP-seq
MIRT999783	hsa-miR-3163	CLIP-seq
MIRT999785	hsa-miR-32	CLIP-seq
MIRT2534149	hsa-miR-323-3p	CLIP-seq
MIRT2534151	hsa-miR-335	CLIP-seq
MIRT2534153	hsa-miR-3591-5p	CLIP-seq
MIRT999786	hsa-miR-363	CLIP-seq
MIRT999787	hsa-miR-367	CLIP-seq
MIRT999789	hsa-miR-3919	CLIP-seq
MIRT2534154	hsa-miR-3974	CLIP-seq
MIRT2534156	hsa-miR-4255	CLIP-seq
MIRT999795	hsa-miR-4325	CLIP-seq
MIRT999796	hsa-miR-4327	CLIP-seq
MIRT1996341	hsa-miR-4436a	CLIP-seq
MIRT999801	hsa-miR-448	CLIP-seq
MIRT999803	hsa-miR-4517	CLIP-seq
MIRT999808	hsa-miR-4668-3p	CLIP-seq
MIRT1996342	hsa-miR-4700-3p	CLIP-seq
MIRT2534164	hsa-miR-4738-3p	CLIP-seq
MIRT999813	hsa-miR-4797-5p	CLIP-seq
MIRT999814	hsa-miR-4803	CLIP-seq
MIRT2534167	hsa-miR-505	CLIP-seq
MIRT2534169	hsa-miR-543	CLIP-seq
MIRT2534174	hsa-miR-624	CLIP-seq
MIRT1996344	hsa-miR-642b	CLIP-seq
MIRT999824	hsa-miR-92a	CLIP-seq
MIRT999825	hsa-miR-92b	CLIP-seq
MIRT999843	hsa-miR-935	CLIP-seq

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Transcription factor	Regulation	Reference
MYC	Unknown	9328468
NRF1	Activation	11058604;16500891
NRF1	Unknown	15175277;9302255;9328468
SP1	Activation	16500891
SP1	Unknown	10612627;15175277;9328468
USF1	Activation	11058604
USF1	Unknown	15175277
USF2	Activation	11058604
USF2	Unknown	15175277

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000290	Process	Deadenylation-dependent decapping of nuclear-transcribed mRNA	IDA	31439799
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IDA	18653529
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0002092	Process	Positive regulation of receptor internalization	IDA	25561520
GO:0002151	Function	G-quadruplex RNA binding	EXP	21642970, 26374839
GO:0002151	Function	G-quadruplex RNA binding	IDA	18653529, 25464849
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IDA	15381419
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IMP	10496225
GO:0003723	Function	RNA binding	TAS	8156595
GO:0003729	Function	MRNA binding	IDA	11157796, 18936162, 25561520, 30765518, 31439799
GO:0003729	Function	MRNA binding	IEA
GO:0003729	Function	MRNA binding	TAS	7692601
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0003730	Function	MRNA 3'-UTR binding	IDA	17417632
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0005515	Function	Protein binding	IPI	7489725, 10556305, 11157796, 11438699, 12837692, 15380484, 15381419, 16407062, 16571602, 18093976, 18936162, 21653829, 21771594, 24514761, 24658146, 24981860, 25416956, 25464849, 26949739, 31413325, 31439799, 32525608, 32814053, 33961781, 36950384, 37207277, 39251607
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	31753916
GO:0005634	Component	Nucleus	IDA	18936162, 24204304
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA	16571602
GO:0005654	Component	Nucleoplasm	TAS	10888599
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0005730	Component	Nucleolus	IDA	16571602, 24658146
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	TAS	16407062
GO:0005737	Component	Cytoplasm	IDA	9259278
GO:0005737	Component	Cytoplasm	IDA	9659908, 15381419, 16571602, 18936162, 19097999, 24204304, 25464849, 25561520
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	16407062
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006281	Process	DNA repair	IDA	24813610
GO:0006281	Process	DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006406	Process	MRNA export from nucleus	IDA	31753916
GO:0006406	Process	MRNA export from nucleus	IEA
GO:0006406	Process	MRNA export from nucleus	ISS	31340148
GO:0006417	Process	Regulation of translation	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0008017	Function	Microtubule binding	ISS
GO:0008266	Function	Poly(U) RNA binding	IDA	7688265, 8156595, 24204304
GO:0008380	Process	RNA splicing	IEA
GO:0010369	Component	Chromocenter	ISS
GO:0010494	Component	Cytoplasmic stress granule	IBA
GO:0010494	Component	Cytoplasmic stress granule	IDA	12417522
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0010646	Process	Regulation of cell communication	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0015030	Component	Cajal body	IDA	24204304
GO:0015030	Component	Cajal body	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0017148	Process	Negative regulation of translation	IDA	12417522, 30765518, 31439799
GO:0030371	Function	Translation repressor activity	IDA	11157796
GO:0030371	Function	Translation repressor activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	IDA	15380484
GO:0030426	Component	Growth cone	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0031369	Function	Translation initiation factor binding	IPI	24658146
GO:0032433	Component	Filopodium tip	IEA
GO:0032433	Component	Filopodium tip	ISS
GO:0032797	Component	SMN complex	IDA	18093976
GO:0033592	Function	RNA strand annealing activity	IDA	17057366
GO:0034046	Function	Poly(G) binding	IDA	7688265, 24204304
GO:0034063	Process	Stress granule assembly	IDA	12417522
GO:0035197	Function	SiRNA binding	IDA	17057366
GO:0035198	Function	MiRNA binding	IDA	17057366
GO:0035198	Function	MiRNA binding	IEA
GO:0035591	Function	Signaling adaptor activity	IDA	31439799
GO:0035613	Function	RNA stem-loop binding	IDA	15805463, 19166269
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	15121898, 15380484, 18093976
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IDA	11157796
GO:0042802	Function	Identical protein binding	IPI	17850748, 21446998, 31413325
GO:0042803	Function	Protein homodimerization activity	IDA	7489725
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042995	Component	Cell projection	IDA	15380484
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IDA	18093976
GO:0043005	Component	Neuron projection	IEA
GO:0043022	Function	Ribosome binding	IPI	24658146
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0043204	Component	Perikaryon	IDA	15380484, 18093976
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043232	Component	Intracellular membraneless organelle	IDA	31439799
GO:0043488	Process	Regulation of mRNA stability	IBA
GO:0043488	Process	Regulation of mRNA stability	ISS
GO:0043679	Component	Axon terminus	ISS
GO:0044325	Function	Transmembrane transporter binding	IPI	25561520
GO:0044830	Process	Host-mediated perturbation of viral RNA genome replication	IMP	24514761
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045182	Function	Translation regulator activity	IBA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045727	Process	Positive regulation of translation	IBA
GO:0045727	Process	Positive regulation of translation	IDA	19097999, 19166269
GO:0045727	Process	Positive regulation of translation	IEA
GO:0045947	Process	Negative regulation of translational initiation	IDA	30765518
GO:0045947	Process	Negative regulation of translational initiation	ISS
GO:0046928	Process	Regulation of neurotransmitter secretion	ISS
GO:0046982	Function	Protein heterodimerization activity	IDA	7489725
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048027	Function	MRNA 5'-UTR binding	IDA	19166269
GO:0048170	Process	Positive regulation of long-term neuronal synaptic plasticity	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	24658146
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048513	Process	Animal organ development	IBA
GO:0051028	Process	MRNA transport	IBA
GO:0051028	Process	MRNA transport	IEA
GO:0051028	Process	MRNA transport	ISS
GO:0051130	Process	Positive regulation of cellular component organization	IEA
GO:0051489	Process	Regulation of filopodium assembly	IDA	16631377
GO:0051489	Process	Regulation of filopodium assembly	IEA
GO:0051491	Process	Positive regulation of filopodium assembly	ISS
GO:0060965	Process	Negative regulation of miRNA-mediated gene silencing	IMP	25464849
GO:0060998	Process	Regulation of dendritic spine development	IDA	16631377
GO:0060998	Process	Regulation of dendritic spine development	IEA
GO:0060999	Process	Positive regulation of dendritic spine development	ISS
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070840	Function	Dynein complex binding	ISS
GO:0071598	Component	Neuronal ribonucleoprotein granule	IDA	30765518
GO:0071598	Component	Neuronal ribonucleoprotein granule	IEA
GO:0071598	Component	Neuronal ribonucleoprotein granule	ISS
GO:0097386	Component	Glial cell projection	ISS
GO:0098586	Process	Cellular response to virus	IDA	24514761
GO:0098793	Component	Presynapse	ISS
GO:0098794	Component	Postsynapse	ISS
GO:0098908	Process	Regulation of neuronal action potential	IDA	25561520
GO:0099577	Process	Regulation of translation at presynapse, modulating synaptic transmission	IBA
GO:0140006	Function	Histone H3 reader activity	IDA	24813610
GO:0140693	Function	Molecular condensate scaffold activity	EXP	31439799
GO:0140693	Function	Molecular condensate scaffold activity	IDA	30765518, 31439799
GO:0140693	Function	Molecular condensate scaffold activity	IPI	31439799
GO:0140694	Process	Membraneless organelle assembly	IDA	31439799
GO:0140694	Process	Membraneless organelle assembly	IDA	30765518, 31439799
GO:1900453	Process	Negative regulation of long-term synaptic depression	ISS
GO:1901254	Process	Positive regulation of intracellular transport of viral material	IMP	24514761
GO:1901386	Process	Negative regulation of voltage-gated calcium channel activity	ISS
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	ISS
GO:1902737	Component	Dendritic filopodium	ISS
GO:1990247	Function	N6-methyladenosine-containing RNA reader activity	IDA	31753916
GO:1990247	Function	N6-methyladenosine-containing RNA reader activity	IEA
GO:1990812	Component	Growth cone filopodium	ISS
GO:1990825	Function	Sequence-specific mRNA binding	IDA	12927206, 23235829
GO:1990904	Component	Ribonucleoprotein complex	IDA	9659908
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:2000301	Process	Negative regulation of synaptic vesicle exocytosis	ISS
GO:2000637	Process	Positive regulation of miRNA-mediated gene silencing	IDA	17057366
GO:2000766	Process	Negative regulation of cytoplasmic translation	ISS

MIM	HGNC	e!Ensembl
309550	3775	ENSG00000102081

Q06787

Protein name

Fragile X messenger ribonucleoprotein 1 (Fragile X messenger ribonucleoprotein) (FMRP) (Protein FMR-1)

Protein function

Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic

PDB

2BKD , 2FMR , 2LA5 , 2QND , 4OVA , 4QVZ , 4QW2 , 5DE5 , 5DE8 , 5DEA , 5UWJ , 5UWO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18336	Tudor_FRX1	4 → 52	Fragile X mental retardation Tudor domain	Domain
PF05641	Agenet	62 → 117	Agenet domain	Domain
PF17904	KH_9	123 → 207	FMRP KH0 domain	Domain
PF00013	KH_1	220 → 280	KH domain	Domain
PF00013	KH_1	283 → 333	KH domain	Domain
PF12235	FXMRP1_C_core	420 → 547	Fragile X-related 1 protein core C terminal	Family
PF16098	FXMR_C2	549 → 632	Fragile X-related mental retardation protein C-terminal region 2	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain, cerebellum and testis (PubMed:8401578, PubMed:9259278). Also expressed in epithelial tissues (PubMed:8401578). Expressed in mature oligodendrocytes (OLGs) (PubMed:23891804). Expressed in fibroblast (PubMed:24204

Sequence

MEELVVEVRGSNGAFYKAFVKDVHEDSITVAFENNWQPDRQIPFHDVRFPPPVGYNKDIN
ESDEVEVYSRANEKEPCCWWLAKVRMIKGEFYVIEYAACDATYNEIVTIERLRSVNPNKP
ATKDTFHKIKLDVPEDLRQMCAKEAAHKDFKKAVGAFSVTYDPENYQLVILSINEVTSKR
AHMLIDMHFRSLRTKLSLIMRNEEASKQLESSRQLASRFHEQFIVREDLMGLAIGTHGAN
IQQARKVPGVTAIDLDEDTCTFHIYGEDQDAVKKARSFLEFAEDVIQVPRNLVGKVIGKN
GKLIQEIVDKSGVVRVRIEAENEKNVPQEEEIMPPNSLPSNNSRVGPNAPEEKKHLDIKE
NSTHFSQPNSTKVQRVLVASSVVAGESQKPELKAWQGMVPFVFVGTKDSIANATVLLDYH
LNYLKEVDQLRLERLQIDEQLRQIGASSRPPPNRTDKEKSYVTDDGQGMGRGSRPYRNRG
HGRRGPGYTSGTNSEASNASETESDHRDELSDWSLAPTEEERESFLRRGDGRRRGGGGRG
QGGRGRGGGFKGNDDHSRTDNRPRNPREAKGRTTDGSLQIRVDCNNERSVHTKTLQNTSS
EGSRLRTGKDRNQKKEKPDSVDGQQPLVNGVP

Sequence length

632

Interactions

View interactions

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
Autistic behavior	Likely pathogenic	rs1057518850	RCV000415417	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fragile X syndrome	Likely pathogenic; Pathogenic	rs2043856428, rs2521451788, rs193922936, rs121434622, rs1569545562, rs1557176576, rs2521479850, rs1569545382	RCV001328911 RCV002287600 RCV000162201 RCV000010648 RCV000010649 RCV000010650 RCV004595328 RCV000022880 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fragile X-associated tremor/ataxia syndrome	Likely pathogenic	rs2521504046	RCV003228810	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs782367211, rs2521361687, rs886041088, rs886041089, rs1057518850	RCV002463572 RCV003228811 RCV000258895 RCV000258904 RCV000415417	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs886041089, rs1057518850	RCV005895461 RCV005900681	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (29)

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.
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME XQ27.3Q28 DUPLICATION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FMR1-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure 1	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYMPTOMS OF DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XQ27.3Q28 DUPLICATION SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (341)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	26539667		★★★★★ ★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	17007840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25111034, 32161452, 37769462	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	21944929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	27372099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22072660, 22507827, 25979174, 28424484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	28424484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	33871026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	25307758, 30509972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	28499489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	11918286, 19166269, 19574928, 20629912, 22573456, 24831882, 25106036, 26300270, 28829283, 30900185, 31350260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	19842197, 19996900, 22149120, 22573456, 23146966, 24003006, 30385191, 30396281, 31899609, 40243429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	11918286, 18553360, 19166269, 19574928, 20629912, 22573456, 23786467, 24003006, 24831882, 25106036, 26300270, 28829283, 28895261, 30900185, 31350260		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety Disorders	Anxiety disorder	Pubtator	23786467, 24003006, 28895261	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety Disorders	Anxiety Disorder	CTD_human_DG	28616095		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic	Anxiety Disorder	CTD_human_DG	28616095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	15879417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	27683117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	15065016, 18165273, 18165276, 18273822, 19996900, 21237174, 21484870, 21567456, 21639881, 21926154, 25366135, 27883256, 31553368, 32089525, 35701103, 38132093 View all (1 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	15483640, 18363164, 19235102, 8519769		★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	30382442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	30382442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	29299012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	36434514, 40243429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19996900, 20059484, 21291994, 21344625, 21427756, 22101959, 23786467, 30385191, 31880363, 31899609, 37120588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	22101959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	24521091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	19996900, 21926154, 21935445, 22001913, 22022567, 22543975, 23849776, 24207117, 24432860, 25055869, 25271084, 26239490, 28422133, 30385191, 30559470 View all (14 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	15613987, 17166860, 19214804, 19996900, 21328568, 21784246, 22001913, 22080836, 23235829, 23320543, 23719910, 23849776, 24207117, 24463622, 24818597 View all (35 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	BEFREE	11694672, 15551333, 16700053, 25432536, 27939692, 29715444, 30815010		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior	Autism	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder	Autism	BEFREE	14755444, 1481857, 16511373, 16700053, 17097142, 17519220, 19160128, 19166269, 19211207, 19556253, 19724010, 20425835, 20643379, 21108954, 21784246 View all (41 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	14755444, 15000256, 18621663, 20425835, 9806479		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	15000256		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	15000256, 18165273, 18565783, 21427756, 21901840, 21935445, 22542183, 22693142, 22767137, 23042784, 24463508, 24876161, 26374839, 27001315, 27880953 View all (10 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	23778581, 25956630	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10941804, 20809278, 21179569, 24718368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	18384784, 21179569, 34065644, 34789272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	18384784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30186407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	31158927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	17166801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	BEFREE	8972540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	23778581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	25956630, 32576818, 33077856	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	12135967, 17133502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26239490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17652158, 17998253, 24092663, 25268320, 28667565, 29144507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29144507, 39389065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	7998766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36347844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35942760, 37379126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23528734, 30127919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	37041267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	34498198	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Late Onset	Cerebellar Ataxia	BEFREE	25085749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	16055059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	LHGDN	16055059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	27259564, 31158927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	12135967, 17133502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	20558944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	23849776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	23533570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME	Xq27.3q28 Duplication Syndrome	ORPHANET_DG	19844254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	31765665, 37252957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	12949966, 19574928, 19796132, 21516088, 22542183, 22993428, 23849776, 24958193, 25956630, 27122614, 28689930, 29950602, 30365357		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	18273822, 21270637, 21291994, 21295394, 22542183, 23307923, 24521091, 25111034, 25498860, 25925982, 25956630, 26239490, 27335370, 28407408, 28929824 View all (5 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognitive disorder	CTD_human_DG	22043169		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	28972453	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognitive Dysfunction	Cognition disorder	Pubtator	25809302, 35026985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36347844	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37194014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	24634123	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of face	Facial dysmorphism	BEFREE	25027833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10495929, 21859812, 23525284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	23574351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital macroorchidism	Congenital macroorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	36012355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	17133502, 17917121, 18478592, 24814676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	17591512, 18165273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	18472033, 18487560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	7998766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	18628675, 20629912, 25106036, 26300270, 30900185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	19842197, 19996900, 22149120, 22573456, 23373759, 30385191, 31899609, 35246105, 37120588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	23778581, 25956630	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	28895261, 33077856	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	10341296, 11427173, 14993603, 21893938, 22393900, 23236003, 27356167, 28652410, 7585014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	10424820, 18565783, 20799337, 22549406, 23634718, 25271084, 27880953, 29595813, 29747568, 32985615, 33373777, 33911031, 33911214, 36884289	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28990742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	34605097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	30665341, 31161414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22863780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	20702130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	23307483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	23307483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	25171325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	23211703, 25027833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	25271084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	26212380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34347888, 34889221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	12418611	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10424820, 12418611, 17007840, 18832330, 18839028, 23849776, 29771335, 8972540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	10424820, 12418611, 22549406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	8972540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30127919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36159855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	15300658, 25796179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	25796179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	28972453	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	19844254, 8037202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
FG syndrome	FG Syndrome	BEFREE	8844090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	30509972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	UNIPROT_DG	10196376, 11157796, 15380484, 15805463, 17850748, 18093976, 18664458, 23235829, 24204304, 24448548, 24514761, 24813610, 25561520, 7633450, 7688265, 8156595, 8401578, 8490650, 9659908 View all (4 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fragile X Syndrome	Fragile X Syndrome	BEFREE	10208163, 10208166, 10208176, 10331588, 10331594, 10331596, 10331598, 10331599, 10331600, 10331601, 10331602, 10331603, 10341296, 10364521, 10369098 View all (651 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fragile X Syndrome	Fragile X Syndrome	CLINGEN_DG	11157796, 1675488, 20011099, 21267007, 24448548, 25693964, 28176767, 7670500, 8033209, 8069307, 8348153, 8401578, 8490650, 8490651, 9659908		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fragile X Syndrome	Fragile X Syndrome	LHGDN	12112763, 12232854, 12515381, 12810982, 14993603, 15377638, 16337617, 17097142, 17101793, 17922850, 17932962, 18181681, 18323308, 18412117, 18664458, 19193898 View all (1 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fragile X Syndrome	Fragile X Syndrome	CTD_human_DG	15028757, 16043816, 16510718, 17065172, 18835858, 20300527, 22043169, 28616095		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fragile X Syndrome	Fragile X Syndrome	CLINVAR_DG	1710175, 7620122		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fragile X syndrome	Fragile X Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fragile X Syndrome	Fragile X Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRAXA Syndrome	Fragile X syndrome	BEFREE	10773084, 11462240, 17383248, 17428316, 18616611, 19853235, 8593539, 9034011		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRAXA Syndrome	Fragile X syndrome	CTD_human_DG	15028757, 16043816, 16510718, 17065172, 18835858, 20300527, 22043169, 28616095		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRAXE Syndrome	Fragile X syndrome	BEFREE	10331587, 8844095		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRAXE Syndrome	Fragile X syndrome	CTD_human_DG	15028757, 16043816, 16510718, 17065172, 18835858, 20300527, 22043169, 28616095		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	24787137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	25979174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	12515261, 20799337, 22549406, 23525284, 23634718, 23949867, 25171808, 27880953, 29595813, 29747568, 31698054, 9630071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Agenesis	Gonadal Agenesis	CTD_human_DG	22043169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	CTD_human_DG	22043169		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadotropin-Resistant Ovary Syndrome	Gonadotropin-Resistant Ovary Syndrome	CTD_human_DG	12548733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	28990742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	19844254	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	17548778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	31896764	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	21783174, 27739609, 27959330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	7923142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	30264515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	33883220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	9195158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	27555610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	7758107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypergonadotropic Ovarian Failure, X-Linked	Premature ovarian failure	CTD_human_DG	12548733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	22549406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	Pubtator	28972453	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	40287634	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19367323, 19842197, 19996900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22528549, 23373759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	19844254	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	28990742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	19996900, 23373759, 28617938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	19996900, 23373759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34605097	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	23574351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	23574351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	23786467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	10449653, 12135967, 12949966, 14526182, 14599277, 17548778, 18373410, 19574928, 19796132, 21270637, 21291994, 21295394, 21516088, 22235103, 22579290 View all (17 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	19642041, 22427263, 22963248, 24003006, 28454580, 32155011, 39408972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	19642041, 30576349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	32155011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10094554, 10319871, 10331586, 10331593, 10331599, 10369109, 10424820, 10495929, 10496225, 10546896, 10748416, 10767313, 10767339, 10780779, 10799273 View all (176 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	10424820, 10854106, 10922388, 12136110, 15000256, 17117359, 1757958, 19465392, 19844254, 20090132, 20417602, 21427756, 21926154, 23219959, 23739124 View all (28 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	LHGDN	15000256, 15805463, 16337617, 16891414, 17850748, 18165971		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	15000256, 20425835		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jacobsen Distal 11q Deletion Syndrome	Jacobsen Syndrome	BEFREE	22564372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	23523717, 26895548, 33813684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	10851251, 12883656, 15381024, 24419320, 9435259, 9630071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	10851251, 24521091, 27880953, 28818679, 33911031, 9435259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	25925982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17786358, 31281495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	32525608	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33883220	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	18376289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	7668289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	7668289	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10941804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	18553360, 25956630, 28895261		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18553360, 23778581		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	16924033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17998253, 24092663, 25268320, 28667565, 29144507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23528734, 25036526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17652158, 24065114, 24092663, 28667565		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29144507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29144507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	15000256, 20425835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	18628675, 20629912, 25106036, 26300270, 30900185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	16184602, 21108954, 24003006, 24166828, 25171325, 25809302, 26300270, 28422133, 30900185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	10851251, 12112449, 18165273, 18225979, 22311273, 28334053, 31350260, 7825604, 8069653, 8776586, 9916838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10094554, 10319871, 10331586, 10331593, 10331599, 10369109, 10424820, 10495929, 10496225, 10546896, 10748416, 10767313, 10767339, 10780779, 10799273 View all (107 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation Autosomal Recessive 1	Intellectual developmental disorder	Pubtator	21267007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	10495931, 11050621, 11142761, 11992259, 15154114, 1572655, 16523516, 8651263, 9326332, 9399905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	11030419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	20819625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	29144507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly with Mental Retardation and Digital Anomalies	Microcephaly	Pubtator	16905681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmia syndromic 7	Microphthalmia	Pubtator	32601218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	23373759, 28617938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	23373759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	7541938, 8808600, 8844095, 9806479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29054962, 31625034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21270637, 23373759, 27555610, 27646161, 34070950, 37820724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	PSYGENET_DG	19842197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	23373759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius Syndrome	BEFREE	1708201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	12515261, 24963073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	23778581, 25956630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	25956630, 28895261, 30396281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	30509972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Skills Disorders	Motor skills disorder	Pubtator	33911031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	16493202, 17133502, 21567456, 21639881, 23298734, 24612675, 26439425, 27372099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	23009394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	BEFREE	1572654, 23634718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	Pubtator	23634718, 35916809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36177774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18695063, 26194536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	18695063, 31484947	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	36375840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	23574351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	34789272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	36061306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27683117, 7668289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	19996900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	12612802, 15483640, 25215498, 25268320, 25701550, 27980694, 28257890, 28444183, 30567555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16098133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	19514725, 21237174, 21270637, 21484870, 22584570, 23739124, 25399540, 27001315, 27089882, 27555610, 27840045, 28972453, 32576818, 33433033, 33760253, 35026985, 35701103 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15111000, 16239243, 16246864, 17166801, 17166860, 17179750, 17698009, 17724287, 18294097, 19204162, 19404994, 19542082, 19574929, 19794313, 19864489 View all (57 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	15629215, 17442505, 23396537, 23912948, 25271084, 26802682, 28640668, 31063743, 9630071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	20503326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	34153466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal intranuclear inclusion disease	Neuronal Intranuclear Inclusion Disease	BEFREE	31332380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	28617938, 29325626, 30900185		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary ovarian failure	Ovarian Failure	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	9603608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	BEFREE	28077511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ocular Albinism type 1	Ocular albinism	Pubtator	33387817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	33387817, 36967763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	17428316, 18384775, 18384784, 19410248, 19642041, 22581803, 22984553, 23212832, 24788194, 24938362, 25579682, 25906823, 27189053, 27695106, 27816231 View all (6 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Dysgenesis 2	Ovarian dysgenesis	Pubtator	17428316, 22493044, 32089525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	10325264, 10331614, 10729312, 10854106, 10894934, 11256870, 11299520, 11299521, 12119565, 12407031, 12612802, 12871874, 12952862, 16078053, 16251893 View all (70 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	CTD_human_DG	12548733		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	LHGDN	14746957, 16078053, 16361284, 16708166, 18310361		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	23528734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18535897, 23703681, 35038595, 35248053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15390127, 15929093, 17548778, 17620491, 18565783, 19204162, 20702130, 21257332, 21270637, 21567456, 23198693, 24401315, 27696273, 31768670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	17620491, 18565783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	18565783, 20702130, 21270637, 21567456, 30153395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	18273822, 18565783, 19796183, 20702130, 21270637, 21445959, 21567456, 30153395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	20702130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	15300658, 15390127, 15929093, 16250026, 16723388, 17548778, 17620491, 18273822, 18565783, 19204162, 19796183, 20702130, 21270637, 21445959, 21567456 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	LHGDN	18273822, 18565783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	21179569, 30136016, 32096109	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	19367323, 19842197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	30187385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	16924033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	17166860, 22001913, 24207117, 24463622, 26709905, 27939692, 28422133, 29116166, 29128904, 30107092, 30115809, 30385191, 30911036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	25979174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	BEFREE	23574351		★★★★★ ★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	BEFREE	27230899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	21179569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	21179569, 29981579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	18553360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	17998253, 18226259, 8411072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	8957775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	10325264, 10331614, 10729312, 10854106, 10894934, 11256870, 11299520, 11299521, 12119565, 12407031, 12612802, 12871874, 12952862, 16078053, 16085940 View all (74 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Ovarian Failure 1	Premature Ovarian Failure	CTD_human_DG	12548733		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Premature Ovarian Failure 1	Premature Ovarian Failure	BEFREE	18574214, 20059484, 21116185, 21597380, 23129072, 23373759, 24418349, 25134882, 25366135, 25399540, 26095811, 26537920, 27230899, 27695106, 28617938 View all (4 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Premature Ovarian Failure 1	Premature Ovarian Failure	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Presenile dementia	Senile Dementia	BEFREE	17133502, 17917121, 18478592, 24814676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	15000256, 20425835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	27230899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37056926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	9603608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renpenning syndrome 1	Renpenning Syndrome	BEFREE	28073926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	28617938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	20819625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23333116, 23778581, 24876161, 24984191, 25363768, 25956630, 26824476, 28039324, 28422133, 28719003, 28902714, 29411265, 29785013, 30176067, 8750357, 8840394 View all (1 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23333116, 23778581		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	23778581, 24463507, 24463508, 24776740, 24876161, 25956630, 26573769, 28422133, 28719003, 33077856, 38103876	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA 11	Schizophrenia	BEFREE	27120077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia Spectrum and Other Psychotic Disorders	Schizophrenia	Pubtator	32576818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Limited	Scleroderma	Pubtator	31887710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	BEFREE	23107817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	19367323, 19842197, 22001913, 35852003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	11142760, 30815010, 8844093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	21932336, 23373759, 28617938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	23373759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	25271084, 28617938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	25271084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	8162055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31520894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	19367323, 19842197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	25399540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	15000674, 15065016, 18273822, 18535897, 18565783, 19026394, 20558944, 21567456, 21926154, 23373759, 29299012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	10674158, 10773084, 11078566, 11142752, 1878973, 20298211, 23660422, 23740941, 24232444, 27667322, 28552599, 30815010, 31680833, 7489725, 7781595, 8411050, 9972098 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24092663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	24806451, 29449635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	29449635	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	24419320, 34073864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	18553360, 23778581		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	25956630		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	BEFREE	30080293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	30136016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	20503326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xq27.3q28 duplication syndrome	Xq27.3q28 Duplication Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

FMR1 (fragile X messenger ribonucleoprotein 1)