TRIO (trio Rho guanine nucleotide exchange factor)

Gene

• Entrez ID: 7204
• Gene name: Trio Rho guanine nucleotide exchange factor
• Gene symbol: TRIO
• Synonyms (NCBI Gene): ARHGEF23, MEBAS, MRD44, MRD63, tgat
• Chromosome: 5
• Chromosome location: 5p15.2
• Summary: This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs879255622	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs879255623	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879255624	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs879255625	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879255626	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs879255627	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs879255628	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs905287265	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1057516029	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1435239428	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1436796227	->C,CC	Likely-pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, frameshift variant
rs1554054155	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554062562	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554062588	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554064737	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554064863	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554065893	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554068529	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554070777	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554086647	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1554091578	AT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1561518112	G>A	Pathogenic	Downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1579448914	GT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579522661	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1579564431	A>G	Likely-pathogenic	Splice acceptor variant
rs1579803563	GC>CGAGGGG	Likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1579804792	->CCGGG	Likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020707	hsa-miR-155-5p	Proteomics	18668040
MIRT028297	hsa-miR-32-5p	Sequencing	20371350
MIRT028514	hsa-miR-30a-5p	Proteomics	18668040
MIRT052599	hsa-let-7a-5p	CLASH	23622248
MIRT038821	hsa-miR-93-3p	CLASH	23622248
MIRT038821	hsa-miR-93-3p	CLASH	23622248
MIRT095655	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT095658	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028297	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1456202	hsa-miR-101	CLIP-seq
MIRT1456203	hsa-miR-1206	CLIP-seq
MIRT1456204	hsa-miR-1207-5p	CLIP-seq
MIRT1456205	hsa-miR-125a-3p	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT1456207	hsa-miR-1299	CLIP-seq
MIRT1456208	hsa-miR-132	CLIP-seq
MIRT1456209	hsa-miR-139-3p	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456212	hsa-miR-153	CLIP-seq
MIRT1456213	hsa-miR-190	CLIP-seq
MIRT1456214	hsa-miR-190b	CLIP-seq
MIRT1456215	hsa-miR-212	CLIP-seq
MIRT1456216	hsa-miR-2355-5p	CLIP-seq
MIRT1456217	hsa-miR-25	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT1456220	hsa-miR-3123	CLIP-seq
MIRT1456221	hsa-miR-3133	CLIP-seq
MIRT1456222	hsa-miR-3163	CLIP-seq
MIRT1456223	hsa-miR-32	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT1456225	hsa-miR-3613-3p	CLIP-seq
MIRT1456226	hsa-miR-363	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT1456229	hsa-miR-367	CLIP-seq
MIRT1456230	hsa-miR-3677-5p	CLIP-seq
MIRT1456231	hsa-miR-3714	CLIP-seq
MIRT1456232	hsa-miR-375	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT1456234	hsa-miR-383	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT1456238	hsa-miR-4307	CLIP-seq
MIRT1456239	hsa-miR-4311	CLIP-seq
MIRT1456240	hsa-miR-448	CLIP-seq
MIRT1456241	hsa-miR-4511	CLIP-seq
MIRT1456242	hsa-miR-4635	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT1456249	hsa-miR-4763-3p	CLIP-seq
MIRT1456250	hsa-miR-4772-5p	CLIP-seq
MIRT1456251	hsa-miR-4782-5p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT1456253	hsa-miR-502-5p	CLIP-seq
MIRT1456254	hsa-miR-509-3p	CLIP-seq
MIRT1456255	hsa-miR-516b	CLIP-seq
MIRT1456256	hsa-miR-539	CLIP-seq
MIRT1456257	hsa-miR-548aa	CLIP-seq
MIRT1456258	hsa-miR-548ac	CLIP-seq
MIRT1456259	hsa-miR-548d-3p	CLIP-seq
MIRT1456260	hsa-miR-548z	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT1456262	hsa-miR-570	CLIP-seq
MIRT1456263	hsa-miR-582-5p	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT1456265	hsa-miR-92a	CLIP-seq
MIRT1456266	hsa-miR-92b	CLIP-seq
MIRT1456267	hsa-miR-935	CLIP-seq
MIRT1456268	hsa-miR-940	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT1456204	hsa-miR-1207-5p	CLIP-seq
MIRT1456205	hsa-miR-125a-3p	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT2136773	hsa-miR-1286	CLIP-seq
MIRT2136774	hsa-miR-1293	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT2136775	hsa-miR-3132	CLIP-seq
MIRT2136776	hsa-miR-3151	CLIP-seq
MIRT2136777	hsa-miR-3177-5p	CLIP-seq
MIRT2136778	hsa-miR-3184	CLIP-seq
MIRT2136779	hsa-miR-34a	CLIP-seq
MIRT2136780	hsa-miR-34c-5p	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT2136781	hsa-miR-423-5p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT1456239	hsa-miR-4311	CLIP-seq
MIRT2136782	hsa-miR-4447	CLIP-seq
MIRT2136783	hsa-miR-4472	CLIP-seq
MIRT2136784	hsa-miR-4483	CLIP-seq
MIRT2136785	hsa-miR-449a	CLIP-seq
MIRT2136786	hsa-miR-449b	CLIP-seq
MIRT2136787	hsa-miR-4651	CLIP-seq
MIRT2136788	hsa-miR-4688	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT1456249	hsa-miR-4763-3p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT1456254	hsa-miR-509-3p	CLIP-seq
MIRT2136789	hsa-miR-5095	CLIP-seq
MIRT2136790	hsa-miR-541	CLIP-seq
MIRT2136791	hsa-miR-552	CLIP-seq
MIRT2136792	hsa-miR-556-3p	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT2136793	hsa-miR-608	CLIP-seq
MIRT2136794	hsa-miR-654-5p	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT2136795	hsa-miR-892a	CLIP-seq
MIRT2136796	hsa-miR-943	CLIP-seq
MIRT1456202	hsa-miR-101	CLIP-seq
MIRT1456203	hsa-miR-1206	CLIP-seq
MIRT2357540	hsa-miR-1268	CLIP-seq
MIRT2357541	hsa-miR-1268b	CLIP-seq
MIRT2357542	hsa-miR-1273f	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT2136773	hsa-miR-1286	CLIP-seq
MIRT2357543	hsa-miR-129-5p	CLIP-seq
MIRT2357544	hsa-miR-1298	CLIP-seq
MIRT2357545	hsa-miR-1304	CLIP-seq
MIRT1456208	hsa-miR-132	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT2357546	hsa-miR-143	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456212	hsa-miR-153	CLIP-seq
MIRT1456213	hsa-miR-190	CLIP-seq
MIRT1456214	hsa-miR-190b	CLIP-seq
MIRT2357547	hsa-miR-200b	CLIP-seq
MIRT2357548	hsa-miR-200c	CLIP-seq
MIRT1456215	hsa-miR-212	CLIP-seq
MIRT1456216	hsa-miR-2355-5p	CLIP-seq
MIRT1456217	hsa-miR-25	CLIP-seq
MIRT2357549	hsa-miR-2964a-5p	CLIP-seq
MIRT2357550	hsa-miR-298	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT2357551	hsa-miR-3120-3p	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT2357552	hsa-miR-3140-5p	CLIP-seq
MIRT2136776	hsa-miR-3151	CLIP-seq
MIRT1456222	hsa-miR-3163	CLIP-seq
MIRT2136777	hsa-miR-3177-5p	CLIP-seq
MIRT2136778	hsa-miR-3184	CLIP-seq
MIRT2357553	hsa-miR-3189-3p	CLIP-seq
MIRT1456223	hsa-miR-32	CLIP-seq
MIRT2357554	hsa-miR-345	CLIP-seq
MIRT2136779	hsa-miR-34a	CLIP-seq
MIRT2136780	hsa-miR-34c-5p	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT2357555	hsa-miR-3607-5p	CLIP-seq
MIRT1456225	hsa-miR-3613-3p	CLIP-seq
MIRT2357556	hsa-miR-3614-5p	CLIP-seq
MIRT1456226	hsa-miR-363	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT2357557	hsa-miR-3663-3p	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT1456229	hsa-miR-367	CLIP-seq
MIRT2357558	hsa-miR-3673	CLIP-seq
MIRT2357559	hsa-miR-3678-3p	CLIP-seq
MIRT2357560	hsa-miR-3689a-5p	CLIP-seq
MIRT2357561	hsa-miR-3689b	CLIP-seq
MIRT2357562	hsa-miR-3689e	CLIP-seq
MIRT2357563	hsa-miR-3689f	CLIP-seq
MIRT1456231	hsa-miR-3714	CLIP-seq
MIRT1456232	hsa-miR-375	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT2357564	hsa-miR-3908	CLIP-seq
MIRT2357565	hsa-miR-3920	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2136781	hsa-miR-423-5p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT2357566	hsa-miR-429	CLIP-seq
MIRT2357567	hsa-miR-4312	CLIP-seq
MIRT2357568	hsa-miR-4318	CLIP-seq
MIRT2357569	hsa-miR-4427	CLIP-seq
MIRT1456240	hsa-miR-448	CLIP-seq
MIRT2136785	hsa-miR-449a	CLIP-seq
MIRT2136786	hsa-miR-449b	CLIP-seq
MIRT2357570	hsa-miR-450b-5p	CLIP-seq
MIRT2357571	hsa-miR-4663	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT2357572	hsa-miR-4679	CLIP-seq
MIRT2136788	hsa-miR-4688	CLIP-seq
MIRT2357573	hsa-miR-4693-5p	CLIP-seq
MIRT2357574	hsa-miR-4708-5p	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT2357575	hsa-miR-4750	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT2357576	hsa-miR-4770	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT2357578	hsa-miR-507	CLIP-seq
MIRT2136789	hsa-miR-5095	CLIP-seq
MIRT1456257	hsa-miR-548aa	CLIP-seq
MIRT1456258	hsa-miR-548ac	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1456259	hsa-miR-548d-3p	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT1456260	hsa-miR-548z	CLIP-seq
MIRT2136791	hsa-miR-552	CLIP-seq
MIRT2136792	hsa-miR-556-3p	CLIP-seq
MIRT2357579	hsa-miR-557	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT1456263	hsa-miR-582-5p	CLIP-seq
MIRT2357580	hsa-miR-635	CLIP-seq
MIRT2357581	hsa-miR-664	CLIP-seq
MIRT2357582	hsa-miR-711	CLIP-seq
MIRT2357583	hsa-miR-759	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT2357584	hsa-miR-890	CLIP-seq
MIRT2136795	hsa-miR-892a	CLIP-seq
MIRT1456265	hsa-miR-92a	CLIP-seq
MIRT1456266	hsa-miR-92b	CLIP-seq
MIRT1456268	hsa-miR-940	CLIP-seq
MIRT2136796	hsa-miR-943	CLIP-seq
MIRT2357540	hsa-miR-1268	CLIP-seq
MIRT2357541	hsa-miR-1268b	CLIP-seq
MIRT2357542	hsa-miR-1273f	CLIP-seq
MIRT2357545	hsa-miR-1304	CLIP-seq
MIRT2357546	hsa-miR-143	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2357574	hsa-miR-4708-5p	CLIP-seq
MIRT2357575	hsa-miR-4750	CLIP-seq
MIRT2357576	hsa-miR-4770	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq
MIRT2357544	hsa-miR-1298	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT2357551	hsa-miR-3120-3p	CLIP-seq
MIRT2357553	hsa-miR-3189-3p	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT2357564	hsa-miR-3908	CLIP-seq
MIRT2357567	hsa-miR-4312	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT2434365	hsa-miR-491-3p	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT2357580	hsa-miR-635	CLIP-seq
MIRT2357581	hsa-miR-664	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	8643598
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS	8643598
GO:0005515	Function	Protein binding	IPI	17043677, 19846667, 21422296, 22666460, 31413325
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007185	Process	Cell surface receptor protein tyrosine phosphatase signaling pathway	TAS	8643598
GO:0007411	Process	Axon guidance	IBA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019898	Component	Extrinsic component of membrane	IBA
GO:0042995	Component	Cell projection	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS
GO:0048786	Component	Presynaptic active zone	IDA	27907191
GO:0048786	Component	Presynaptic active zone	IMP	27907191
GO:0048812	Process	Neuron projection morphogenesis	IMP	32109419
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IDA	26858404
GO:0098978	Component	Glutamatergic synapse	IMP	26858404
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IDA	26858404
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IMP	26858404
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 601893
• HGNC: 12303
• e!Ensembl: ENSG00000038382

Protein

• UniProt ID: O75962
• Protein name: Triple functional domain protein (EC 2.7.11.1) (PTPRF-interacting protein)
• Protein function: Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:22155786, PubMed:27418539, PubMed:8643598). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202, PubMed:22155786)
• PDB: 1NTY, 2NZ8, 6D8Z, 7SJ4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00650	CRAL_TRIO	67 → 205	CRAL/TRIO domain	Domain
  PF00435	Spectrin	340 → 446	Spectrin repeat	Domain
  PF00435	Spectrin	566 → 672	Spectrin repeat	Domain
  PF00435	Spectrin	907 → 1011	Spectrin repeat	Domain
  PF00435	Spectrin	1138 → 1244	Spectrin repeat	Domain
  PF00621	RhoGEF	1296 → 1468	RhoGEF domain	Domain
  PF00169	PH	1480 → 1591	PH domain	Domain
  PF00018	SH3_1	1662 → 1713	SH3 domain	Domain
  PF16609	SH3-RhoG_link	1715 → 1972		Disordered
  PF00621	RhoGEF	1973 → 2143	RhoGEF domain	Domain
  PF00169	PH	2159 → 2271	PH domain	Domain
  PF07679	I-set	2685 → 2776	Immunoglobulin I-set domain	Domain
  PF00069	Pkinase	2796 → 3050	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with highest levels in heart, skeletal muscle, and brain. {ECO:0000269|PubMed:8643598}.
• Sequence:

  MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEM
  KAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVC
  KRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFE
  TNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDI
  LAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSG
  NADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNK
  GLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIR
  QIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDL
  EDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDV
  IHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSL
  HRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFV
  RRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTT
  LQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKI
  KLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNN
  LTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHR
  KHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKT
  HQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTS
  EQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRN
  ADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQY
  VVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLI
  QLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQ
  LDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLW
  EMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKF
  QMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELL
  TCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTL
  IRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVG
  RTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRR
  DGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRG
  QTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVS
  SNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKH
  KKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEG
  EEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSK
  MALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVET
  ERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLED
  PEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKP
  VQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVA
  QGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKV
  SCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNAL
  TSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSR
  IPQPVRHHPPVLVSSAASSQAEADKMSGTSTPGPSLPPPGAAPEAGPSAPSRRPPGADAE
  GSEREAEPIPKMKVLESPRKGAANASGSSPDAPAKDARASLGTLPLGKPRAGAASPLNSP
  LSSAVPSLGKEPFPPSSPLQKGGSFWSSIPASPASRPGSFTFPGDSDSLQRQTPRHAAPG
  KDTDRMSTCSSASEQSVQSTQSNGSESSSSSNISTMLVTHDYTAVKEDEINVYQGEVVQI
  LASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIVENPDGTLKKSTSWHTALRLRK
  KSEKKDKDGKREGKLENGYRKSREGLSNKVSVKLLNPNYIYDVPPEFVIPLSEVTCETGE
  TVVLRCRVCGRPKASITWKGPEHNTLNNDGHYSISYSDLGEATLKIVGVTTEDDGIYTCI
  AVNDMGSASSSASLRVLGPGMDGIMVTWKDNFDSFYSEVAELGRGRFSVVKKCDQKGTKR
  AVATKFVNKKLMKRDQVTHELGILQSLQHPLLVGLLDTFETPTSYILVLEMADQGRLLDC
  VVRWGSLTEGKIRAHLGEVLEAVRYLHNCRIAHLDLKPENILVDESLAKPTIKLADFGDA
  VQLNTTYYIHQLLGNPEFAAPEIILGNPVSLTSDTWSVGVLTYVLLSGVSPFLDDSVEET
  CLNICRLDFSFPDDYFKGVSQKAKEFVCFLLQEDPAKRPSAALALQEQWLQAGNGRSTGV
  LDTSRLTSFIERRKHQNDVRPIRSIKNFLQSRLLPRV

• Sequence length: 3097

Pathways

Reactome:

NRAGE signals death through JNK
Rho GTPase cycle
G alpha (q) signalling events
G alpha (12/13) signalling events
DCC mediated attractive signaling

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive nonsyndromic hearing loss 28	Likely pathogenic; Pathogenic	rs2532735873, rs1554065887	RCV004017203 RCV000760240	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	Likely pathogenic; Pathogenic	rs2152284932, rs2152305937, rs746654944, rs879255628, rs2533501391, rs2533486612, rs1554065887, rs1745369142, rs1747669042, rs1745368018, rs1747667518, rs748670822	RCV002226932 RCV002226961 RCV002288351 RCV001030053 RCV003335801 RCV004566620 RCV001030433 RCV001030434 RCV001030435 RCV003147600 RCV001256180 RCV001256181 RCV001775162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1554065887, rs752676391, rs1747667518, rs1746764895	RCV001260804 RCV001260798 RCV001260786 RCV001261383	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic	rs1435239428	RCV001003587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	Likely pathogenic; Pathogenic	rs1747352673, rs2126611738, rs2152373759, rs2152340697, rs2126522675, rs2152285036, rs2152354197, rs1747667518, rs140745100, rs2533489360, rs2532852191, rs2532138789, rs2532073497, rs879255622, rs879255623, rs879255624, rs879255625, rs879255626, rs879255627, rs879255628, rs2532655785, rs2532981193, rs2532980661, rs2126523176, rs2477476240, rs2532946460, rs2532657267, rs2533602549, rs2533563164, rs2477402345, rs2477467353, rs2533486612, rs2532920318, rs1057516029, rs1554065887, rs1554068529, rs1554070777, rs1579564431, rs1579522661, rs1745369142, rs1746763024, rs752676391, rs1735893497, rs747166529, rs1749983541, rs1736840999, rs1755124330, rs1747669042, rs748670822	RCV001334640 RCV001724747 RCV001814904 RCV002211056 RCV002226844 RCV002244306 RCV002249191 RCV002262173 RCV002274470 RCV002286473 RCV002286487 RCV002289120 RCV002468852 RCV000239538 RCV000239592 RCV000239483 RCV000239545 RCV000239597 RCV000239509 RCV000239559 RCV003326708 RCV003330137 RCV003387560 RCV003389356 RCV003494533 RCV003984953 RCV003991162 RCV003992125 RCV003993712 RCV004545914 RCV004555492 RCV004566619 RCV004595112 RCV000408638 RCV000995906 RCV001706682 RCV001256179 RCV000825015 RCV000995907 RCV002249637 RCV001030436 RCV001030438 RCV001262381 RCV002508951 RCV001252381 RCV001253412 RCV001253281 RCV001254176 RCV001260912	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2152373800	RCV002274430	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic	rs2152290090	RCV002225251	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRIO-related disorder	Likely pathogenic; Pathogenic	rs879255626, rs2532769281, rs2533582735, rs2533042732, rs2533562200, rs1227524890, rs1745369142, rs1747669042, rs1747351918	RCV004547623 RCV004548624 RCV004550655 RCV004550786 RCV004548973 RCV004548855 RCV004553564 RCV002508954 RCV004548113	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANAPHYLAXIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 28	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Developmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal dominant 40	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance; not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	18206229		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	18206229		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	27811012		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	30279051		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32109419, 34914033	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26235986		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	15900231, 30840899		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25851347		★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	BEFREE	16266911		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15215162		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15215162		★☆☆☆☆ Found in Text Mining only
Borderline intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23380069	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25851347	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15215162		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36197256	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29207149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	29207149		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	27502287, 28370350, 29855221		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25432929		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ptosis	Congenital ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	22751097		★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 28	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	21728837		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32109419, 33167890	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	22495306, 23033978, 24038936, 25363760, 25533962, 26721934, 27418539, 28928363, 8643598		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	33167890	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	22586486	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30840899		★☆☆☆☆ Found in Text Mining only
Fibromyxosarcoma	Fibromyxosarcoma	BEFREE	27577794		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	19008376		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29363730	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	29363730	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29224639		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	39519277	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26721934, 30844509		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	32109419	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	18206229		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	30793229		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25851347		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27502287, 28370350, 29855221		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	19233941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	32648197	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25851347	Stimulate	★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27777418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19233941		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15215162		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25851347, 27577794, 29207149, 29526388, 29526389		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	16752383		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29207149		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44	Mental retardation	UNIPROT_DG	26721934, 27418539		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44	Mental retardation	ORPHANET_DG	26721934		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	30396985		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	33167890	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	26721934		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	31515286	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	22495306, 23033978, 24038936, 25363760, 25533962, 26721934, 27418539, 28928363, 8643598		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15215162, 25851347, 27577794		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28973398, 30840899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31740343		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	26235986		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	34616010	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	16752383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	27528700		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	30840899		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36075896	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	15215162	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17311676	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	30773340		★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	31672125		★☆☆☆☆ Found in Text Mining only