BCL11B (BCL11 transcription factor B)

Gene

• Entrez ID: 64919
• Gene name: BCL11 transcription factor B
• Gene symbol: BCL11B
• Synonyms (NCBI Gene): ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, CTIP-2, CTIP2, IDDFSTA, IMD49, RIT1, SMARCM2, ZNF856B, hRIT1-alpha
• Chromosome: 14
• Chromosome location: 14q32.2
• Summary: This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs750610248	A>C,G	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs888230251	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1314314373	G>A,C	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1555376017	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555376035	->GTGTGGCT	Pathogenic	Coding sequence variant, frameshift variant
rs1555376234	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555384300	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555384301	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1595080787	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1595214071	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1595214545	CGCACGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1595214864	GCCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1595215462	->G	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021103	hsa-miR-186-5p	Sequencing	20371350
MIRT021908	hsa-miR-128-3p	Sequencing	20371350
MIRT025027	hsa-miR-183-5p	Sequencing	20371350
MIRT028285	hsa-miR-32-5p	Sequencing	20371350
MIRT028968	hsa-miR-26b-5p	Microarray	19088304
MIRT031515	hsa-miR-16-5p	Sequencing	20371350
MIRT031515	hsa-miR-16-5p	CLASH	23622248
MIRT053447	hsa-miR-203a-3p	Microarray	23807165
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT624589	hsa-miR-8066	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT660336	hsa-miR-3938	HITS-CLIP	23824327
MIRT660335	hsa-miR-1470	HITS-CLIP	23824327
MIRT660334	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT660333	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660332	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT660331	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT660330	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT660329	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT660328	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT660327	hsa-miR-3119	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT624589	hsa-miR-8066	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT624589	hsa-miR-8066	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT624589	hsa-miR-8066	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT503128	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT503127	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT503124	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT028285	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT280623	hsa-miR-137	PAR-CLIP	20371350
MIRT503123	hsa-miR-944	PAR-CLIP	20371350
MIRT503128	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT503127	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT503124	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT028285	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT280623	hsa-miR-137	PAR-CLIP	20371350
MIRT503123	hsa-miR-944	PAR-CLIP	20371350
MIRT503128	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT503127	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT503124	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT028285	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT280623	hsa-miR-137	PAR-CLIP	20371350
MIRT503123	hsa-miR-944	PAR-CLIP	20371350
MIRT503128	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT503127	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT503124	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT028285	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT280623	hsa-miR-137	PAR-CLIP	21572407
MIRT503123	hsa-miR-944	PAR-CLIP	21572407
MIRT503128	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT503127	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT503124	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT028285	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT280623	hsa-miR-137	PAR-CLIP	23446348
MIRT503123	hsa-miR-944	PAR-CLIP	23446348
MIRT503128	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT503127	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT503124	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT028285	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT280623	hsa-miR-137	PAR-CLIP	23446348
MIRT503123	hsa-miR-944	PAR-CLIP	23446348
MIRT503128	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT503127	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT503124	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT028285	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT280623	hsa-miR-137	PAR-CLIP	24398324
MIRT503123	hsa-miR-944	PAR-CLIP	24398324
MIRT498320	hsa-miR-4311	PAR-CLIP	22291592
MIRT498319	hsa-miR-1273d	PAR-CLIP	22291592
MIRT498318	hsa-miR-1224-3p	PAR-CLIP	22291592
MIRT498317	hsa-miR-326	PAR-CLIP	22291592
MIRT498316	hsa-miR-330-5p	PAR-CLIP	22291592
MIRT498315	hsa-miR-1285-3p	PAR-CLIP	22291592
MIRT498314	hsa-miR-3187-5p	PAR-CLIP	22291592
MIRT498313	hsa-miR-5189-5p	PAR-CLIP	22291592
MIRT498312	hsa-miR-612	PAR-CLIP	22291592
MIRT498311	hsa-miR-6860	PAR-CLIP	22291592
MIRT498310	hsa-miR-4486	PAR-CLIP	22291592
MIRT498309	hsa-miR-378g	PAR-CLIP	22291592
MIRT498308	hsa-miR-3926	PAR-CLIP	22291592
MIRT498306	hsa-miR-4640-5p	PAR-CLIP	22291592
MIRT498307	hsa-miR-4726-5p	PAR-CLIP	22291592
MIRT498305	hsa-miR-6508-3p	PAR-CLIP	22291592
MIRT280627	hsa-miR-552-5p	PAR-CLIP	22291592
MIRT441114	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441114	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT735451	hsa-miR-17-3p	Luciferase reporter assay, Microarray, Flow cytometry	32255245
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT624589	hsa-miR-8066	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT660336	hsa-miR-3938	HITS-CLIP	23824327
MIRT660335	hsa-miR-1470	HITS-CLIP	23824327
MIRT660334	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT660333	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660332	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT660331	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT660330	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT660329	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT660328	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT660327	hsa-miR-3119	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT624589	hsa-miR-8066	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT624589	hsa-miR-8066	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT624589	hsa-miR-8066	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT617014	hsa-miR-8070	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT615121	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT615120	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT615119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT615118	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT615117	hsa-miR-527	HITS-CLIP	23824327
MIRT615116	hsa-miR-544a	HITS-CLIP	23824327
MIRT615115	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT503128	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT503127	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT503124	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT028285	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT280623	hsa-miR-137	PAR-CLIP	20371350
MIRT503123	hsa-miR-944	PAR-CLIP	20371350
MIRT503128	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT503127	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT503124	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT028285	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT280623	hsa-miR-137	PAR-CLIP	20371350
MIRT503123	hsa-miR-944	PAR-CLIP	20371350
MIRT503128	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT503127	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT503124	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT028285	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT280623	hsa-miR-137	PAR-CLIP	20371350
MIRT503123	hsa-miR-944	PAR-CLIP	20371350
MIRT503128	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT503127	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT503124	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT028285	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT280623	hsa-miR-137	PAR-CLIP	21572407
MIRT503123	hsa-miR-944	PAR-CLIP	21572407
MIRT503128	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT503127	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT503124	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT028285	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT280623	hsa-miR-137	PAR-CLIP	23446348
MIRT503123	hsa-miR-944	PAR-CLIP	23446348
MIRT503128	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT503127	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT503124	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT028285	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT280623	hsa-miR-137	PAR-CLIP	23446348
MIRT503123	hsa-miR-944	PAR-CLIP	23446348
MIRT503128	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT503127	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT503126	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT503125	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT503124	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT028285	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT280623	hsa-miR-137	PAR-CLIP	24398324
MIRT503123	hsa-miR-944	PAR-CLIP	24398324
MIRT498320	hsa-miR-4311	PAR-CLIP	22291592
MIRT498319	hsa-miR-1273d	PAR-CLIP	22291592
MIRT498318	hsa-miR-1224-3p	PAR-CLIP	22291592
MIRT498317	hsa-miR-326	PAR-CLIP	22291592
MIRT498316	hsa-miR-330-5p	PAR-CLIP	22291592
MIRT498315	hsa-miR-1285-3p	PAR-CLIP	22291592
MIRT498314	hsa-miR-3187-5p	PAR-CLIP	22291592
MIRT498313	hsa-miR-5189-5p	PAR-CLIP	22291592
MIRT498312	hsa-miR-612	PAR-CLIP	22291592
MIRT498311	hsa-miR-6860	PAR-CLIP	22291592
MIRT498310	hsa-miR-4486	PAR-CLIP	22291592
MIRT498309	hsa-miR-378g	PAR-CLIP	22291592
MIRT498308	hsa-miR-3926	PAR-CLIP	22291592
MIRT498306	hsa-miR-4640-5p	PAR-CLIP	22291592
MIRT498307	hsa-miR-4726-5p	PAR-CLIP	22291592
MIRT498305	hsa-miR-6508-3p	PAR-CLIP	22291592
MIRT280627	hsa-miR-552-5p	PAR-CLIP	22291592
MIRT818215	hsa-miR-1179	CLIP-seq
MIRT818216	hsa-miR-1200	CLIP-seq
MIRT818217	hsa-miR-1289	CLIP-seq
MIRT818218	hsa-miR-1909	CLIP-seq
MIRT818219	hsa-miR-25	CLIP-seq
MIRT818220	hsa-miR-3134	CLIP-seq
MIRT818221	hsa-miR-3140-5p	CLIP-seq
MIRT818222	hsa-miR-3198	CLIP-seq
MIRT818223	hsa-miR-3199	CLIP-seq
MIRT818224	hsa-miR-32	CLIP-seq
MIRT818225	hsa-miR-3612	CLIP-seq
MIRT818226	hsa-miR-3615	CLIP-seq
MIRT818227	hsa-miR-363	CLIP-seq
MIRT818228	hsa-miR-3667-3p	CLIP-seq
MIRT818229	hsa-miR-367	CLIP-seq
MIRT818230	hsa-miR-4294	CLIP-seq
MIRT818231	hsa-miR-4309	CLIP-seq
MIRT818232	hsa-miR-4310	CLIP-seq
MIRT818233	hsa-miR-4462	CLIP-seq
MIRT818234	hsa-miR-4534	CLIP-seq
MIRT818235	hsa-miR-4768-5p	CLIP-seq
MIRT818236	hsa-miR-544	CLIP-seq
MIRT818237	hsa-miR-650	CLIP-seq
MIRT818238	hsa-miR-92a	CLIP-seq
MIRT818239	hsa-miR-92b	CLIP-seq
MIRT818240	hsa-miR-101	CLIP-seq
MIRT818241	hsa-miR-105	CLIP-seq
MIRT818242	hsa-miR-106a	CLIP-seq
MIRT818243	hsa-miR-106b	CLIP-seq
MIRT818244	hsa-miR-1184	CLIP-seq
MIRT818245	hsa-miR-1202	CLIP-seq
MIRT818246	hsa-miR-1205	CLIP-seq
MIRT818247	hsa-miR-1237	CLIP-seq
MIRT818248	hsa-miR-1248	CLIP-seq
MIRT818249	hsa-miR-1257	CLIP-seq
MIRT818250	hsa-miR-132	CLIP-seq
MIRT818251	hsa-miR-1324	CLIP-seq
MIRT818252	hsa-miR-138	CLIP-seq
MIRT818253	hsa-miR-144	CLIP-seq
MIRT818254	hsa-miR-17	CLIP-seq
MIRT818255	hsa-miR-200b	CLIP-seq
MIRT818256	hsa-miR-200c	CLIP-seq
MIRT818257	hsa-miR-20a	CLIP-seq
MIRT818258	hsa-miR-20b	CLIP-seq
MIRT818259	hsa-miR-2115	CLIP-seq
MIRT818260	hsa-miR-212	CLIP-seq
MIRT818261	hsa-miR-214	CLIP-seq
MIRT818219	hsa-miR-25	CLIP-seq
MIRT818262	hsa-miR-3117-3p	CLIP-seq
MIRT818263	hsa-miR-3117-5p	CLIP-seq
MIRT818264	hsa-miR-3141	CLIP-seq
MIRT818265	hsa-miR-3149	CLIP-seq
MIRT818266	hsa-miR-3152-5p	CLIP-seq
MIRT818267	hsa-miR-3158-5p	CLIP-seq
MIRT818268	hsa-miR-3160-5p	CLIP-seq
MIRT818269	hsa-miR-3166	CLIP-seq
MIRT818270	hsa-miR-3169	CLIP-seq
MIRT818223	hsa-miR-3199	CLIP-seq
MIRT818224	hsa-miR-32	CLIP-seq
MIRT818271	hsa-miR-331-3p	CLIP-seq
MIRT818272	hsa-miR-335	CLIP-seq
MIRT818273	hsa-miR-33a	CLIP-seq
MIRT818274	hsa-miR-33b	CLIP-seq
MIRT818275	hsa-miR-3609	CLIP-seq
MIRT818276	hsa-miR-3611	CLIP-seq
MIRT818277	hsa-miR-3613-3p	CLIP-seq
MIRT818278	hsa-miR-3614-5p	CLIP-seq
MIRT818279	hsa-miR-3619-5p	CLIP-seq
MIRT818280	hsa-miR-3621	CLIP-seq
MIRT818227	hsa-miR-363	CLIP-seq
MIRT818281	hsa-miR-3656	CLIP-seq
MIRT818282	hsa-miR-3665	CLIP-seq
MIRT818229	hsa-miR-367	CLIP-seq
MIRT818283	hsa-miR-3671	CLIP-seq
MIRT818284	hsa-miR-371-3p	CLIP-seq
MIRT818285	hsa-miR-371b-3p	CLIP-seq
MIRT818286	hsa-miR-3908	CLIP-seq
MIRT818287	hsa-miR-3928	CLIP-seq
MIRT818288	hsa-miR-3942-5p	CLIP-seq
MIRT818289	hsa-miR-3972	CLIP-seq
MIRT818290	hsa-miR-421	CLIP-seq
MIRT818291	hsa-miR-4289	CLIP-seq
MIRT818292	hsa-miR-429	CLIP-seq
MIRT818293	hsa-miR-4291	CLIP-seq
MIRT818294	hsa-miR-4308	CLIP-seq
MIRT818295	hsa-miR-4312	CLIP-seq
MIRT818296	hsa-miR-4436b-5p	CLIP-seq
MIRT818297	hsa-miR-4477a	CLIP-seq
MIRT818298	hsa-miR-4490	CLIP-seq
MIRT818299	hsa-miR-4496	CLIP-seq
MIRT818300	hsa-miR-4503	CLIP-seq
MIRT818301	hsa-miR-4504	CLIP-seq
MIRT818302	hsa-miR-450b-5p	CLIP-seq
MIRT818303	hsa-miR-4539	CLIP-seq
MIRT818304	hsa-miR-4643	CLIP-seq
MIRT818305	hsa-miR-4680-5p	CLIP-seq
MIRT818306	hsa-miR-4686	CLIP-seq
MIRT818307	hsa-miR-4703-5p	CLIP-seq
MIRT818308	hsa-miR-4709-5p	CLIP-seq
MIRT818309	hsa-miR-4712-5p	CLIP-seq
MIRT818310	hsa-miR-4714-3p	CLIP-seq
MIRT818311	hsa-miR-4724-3p	CLIP-seq
MIRT818312	hsa-miR-4728-3p	CLIP-seq
MIRT818313	hsa-miR-4738-3p	CLIP-seq
MIRT818314	hsa-miR-4759	CLIP-seq
MIRT818315	hsa-miR-4760-3p	CLIP-seq
MIRT818316	hsa-miR-4766-3p	CLIP-seq
MIRT818235	hsa-miR-4768-5p	CLIP-seq
MIRT818317	hsa-miR-4774-3p	CLIP-seq
MIRT818318	hsa-miR-4775	CLIP-seq
MIRT818319	hsa-miR-4786-3p	CLIP-seq
MIRT818320	hsa-miR-4789-3p	CLIP-seq
MIRT818321	hsa-miR-4796-3p	CLIP-seq
MIRT818322	hsa-miR-495	CLIP-seq
MIRT818323	hsa-miR-505	CLIP-seq
MIRT818324	hsa-miR-507	CLIP-seq
MIRT818325	hsa-miR-513c	CLIP-seq
MIRT818326	hsa-miR-514b-5p	CLIP-seq
MIRT818327	hsa-miR-515-3p	CLIP-seq
MIRT818328	hsa-miR-516a-3p	CLIP-seq
MIRT818329	hsa-miR-519d	CLIP-seq
MIRT818330	hsa-miR-519e	CLIP-seq
MIRT818331	hsa-miR-520d-5p	CLIP-seq
MIRT818332	hsa-miR-524-5p	CLIP-seq
MIRT818333	hsa-miR-542-3p	CLIP-seq
MIRT818236	hsa-miR-544	CLIP-seq
MIRT818334	hsa-miR-548ag	CLIP-seq
MIRT818335	hsa-miR-548ah	CLIP-seq
MIRT818336	hsa-miR-548ai	CLIP-seq
MIRT818337	hsa-miR-548c-3p	CLIP-seq
MIRT818338	hsa-miR-548m	CLIP-seq
MIRT818339	hsa-miR-548p	CLIP-seq
MIRT818340	hsa-miR-557	CLIP-seq
MIRT818341	hsa-miR-568	CLIP-seq
MIRT818342	hsa-miR-581	CLIP-seq
MIRT818343	hsa-miR-582-5p	CLIP-seq
MIRT818344	hsa-miR-587	CLIP-seq
MIRT818345	hsa-miR-592	CLIP-seq
MIRT818346	hsa-miR-597	CLIP-seq
MIRT818347	hsa-miR-599	CLIP-seq
MIRT818348	hsa-miR-607	CLIP-seq
MIRT818349	hsa-miR-642b	CLIP-seq
MIRT818350	hsa-miR-657	CLIP-seq
MIRT818351	hsa-miR-668	CLIP-seq
MIRT818352	hsa-miR-758	CLIP-seq
MIRT818353	hsa-miR-761	CLIP-seq
MIRT818354	hsa-miR-770-5p	CLIP-seq
MIRT818355	hsa-miR-888	CLIP-seq
MIRT818356	hsa-miR-922	CLIP-seq
MIRT818238	hsa-miR-92a	CLIP-seq
MIRT818239	hsa-miR-92b	CLIP-seq
MIRT818357	hsa-miR-93	CLIP-seq
MIRT818358	hsa-miR-942	CLIP-seq
MIRT1921150	hsa-miR-4652-3p	CLIP-seq
MIRT1921151	hsa-miR-4659a-3p	CLIP-seq
MIRT1921152	hsa-miR-4659b-3p	CLIP-seq
MIRT818345	hsa-miR-592	CLIP-seq
MIRT818346	hsa-miR-597	CLIP-seq
MIRT818215	hsa-miR-1179	CLIP-seq
MIRT1941842	hsa-miR-1183	CLIP-seq
MIRT818244	hsa-miR-1184	CLIP-seq
MIRT818246	hsa-miR-1205	CLIP-seq
MIRT1941843	hsa-miR-182	CLIP-seq
MIRT1941844	hsa-miR-218	CLIP-seq
MIRT818265	hsa-miR-3149	CLIP-seq
MIRT818267	hsa-miR-3158-5p	CLIP-seq
MIRT1941845	hsa-miR-3186-3p	CLIP-seq
MIRT1941846	hsa-miR-323-5p	CLIP-seq
MIRT818271	hsa-miR-331-3p	CLIP-seq
MIRT1941847	hsa-miR-338-5p	CLIP-seq
MIRT1941848	hsa-miR-34a	CLIP-seq
MIRT1941849	hsa-miR-34c-5p	CLIP-seq
MIRT818225	hsa-miR-3612	CLIP-seq
MIRT818277	hsa-miR-3613-3p	CLIP-seq
MIRT818226	hsa-miR-3615	CLIP-seq
MIRT1941850	hsa-miR-3620	CLIP-seq
MIRT1941851	hsa-miR-3646	CLIP-seq
MIRT1941852	hsa-miR-3688-5p	CLIP-seq
MIRT818284	hsa-miR-371-3p	CLIP-seq
MIRT818286	hsa-miR-3908	CLIP-seq
MIRT1941853	hsa-miR-3941	CLIP-seq
MIRT818288	hsa-miR-3942-5p	CLIP-seq
MIRT1941854	hsa-miR-4252	CLIP-seq
MIRT818294	hsa-miR-4308	CLIP-seq
MIRT818232	hsa-miR-4310	CLIP-seq
MIRT1941855	hsa-miR-4318	CLIP-seq
MIRT1941856	hsa-miR-4436a	CLIP-seq
MIRT818296	hsa-miR-4436b-5p	CLIP-seq
MIRT818297	hsa-miR-4477a	CLIP-seq
MIRT1941857	hsa-miR-449a	CLIP-seq
MIRT1941858	hsa-miR-449b	CLIP-seq
MIRT818300	hsa-miR-4503	CLIP-seq
MIRT1921151	hsa-miR-4659a-3p	CLIP-seq
MIRT1921152	hsa-miR-4659b-3p	CLIP-seq
MIRT1941859	hsa-miR-4666-3p	CLIP-seq
MIRT818307	hsa-miR-4703-5p	CLIP-seq
MIRT1941860	hsa-miR-4719	CLIP-seq
MIRT818312	hsa-miR-4728-3p	CLIP-seq
MIRT1941861	hsa-miR-4731-5p	CLIP-seq
MIRT818316	hsa-miR-4766-3p	CLIP-seq
MIRT818235	hsa-miR-4768-5p	CLIP-seq
MIRT818320	hsa-miR-4789-3p	CLIP-seq
MIRT1941862	hsa-miR-4789-5p	CLIP-seq
MIRT1941863	hsa-miR-4802-3p	CLIP-seq
MIRT818338	hsa-miR-548m	CLIP-seq
MIRT1941864	hsa-miR-570	CLIP-seq
MIRT1941865	hsa-miR-578	CLIP-seq
MIRT818343	hsa-miR-582-5p	CLIP-seq
MIRT818348	hsa-miR-607	CLIP-seq
MIRT1941866	hsa-miR-629	CLIP-seq
MIRT818237	hsa-miR-650	CLIP-seq
MIRT1941867	hsa-miR-7	CLIP-seq
MIRT1941868	hsa-miR-876-3p	CLIP-seq
MIRT1941842	hsa-miR-1183	CLIP-seq
MIRT818261	hsa-miR-214	CLIP-seq
MIRT2180709	hsa-miR-29a	CLIP-seq
MIRT2180710	hsa-miR-29b	CLIP-seq
MIRT2180711	hsa-miR-29c	CLIP-seq
MIRT2180712	hsa-miR-3065-3p	CLIP-seq
MIRT2180713	hsa-miR-361-3p	CLIP-seq
MIRT818279	hsa-miR-3619-5p	CLIP-seq
MIRT1941850	hsa-miR-3620	CLIP-seq
MIRT2180714	hsa-miR-3622a-3p	CLIP-seq
MIRT2180715	hsa-miR-3622b-3p	CLIP-seq
MIRT2180716	hsa-miR-3690	CLIP-seq
MIRT2180717	hsa-miR-412	CLIP-seq
MIRT818290	hsa-miR-421	CLIP-seq
MIRT2180718	hsa-miR-4700-3p	CLIP-seq
MIRT2180719	hsa-miR-4704-3p	CLIP-seq
MIRT818308	hsa-miR-4709-5p	CLIP-seq
MIRT818235	hsa-miR-4768-5p	CLIP-seq
MIRT818337	hsa-miR-548c-3p	CLIP-seq
MIRT2180720	hsa-miR-619	CLIP-seq
MIRT1941867	hsa-miR-7	CLIP-seq
MIRT2180721	hsa-miR-711	CLIP-seq
MIRT818353	hsa-miR-761	CLIP-seq
MIRT1941847	hsa-miR-338-5p	CLIP-seq
MIRT1941847	hsa-miR-338-5p	CLIP-seq
MIRT1941859	hsa-miR-4666-3p	CLIP-seq
MIRT2435637	hsa-miR-485-3p	CLIP-seq
MIRT2444723	hsa-miR-15a	CLIP-seq
MIRT2444724	hsa-miR-15b	CLIP-seq
MIRT2444725	hsa-miR-16	CLIP-seq
MIRT2444726	hsa-miR-195	CLIP-seq
MIRT2180709	hsa-miR-29a	CLIP-seq
MIRT2180710	hsa-miR-29b	CLIP-seq
MIRT2180711	hsa-miR-29c	CLIP-seq
MIRT2180712	hsa-miR-3065-3p	CLIP-seq
MIRT2180713	hsa-miR-361-3p	CLIP-seq
MIRT2444727	hsa-miR-3919	CLIP-seq
MIRT2444728	hsa-miR-424	CLIP-seq
MIRT2444729	hsa-miR-4756-3p	CLIP-seq
MIRT2444730	hsa-miR-497	CLIP-seq
MIRT2444731	hsa-miR-545	CLIP-seq
MIRT2444732	hsa-miR-642a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003334	Process	Keratinocyte development	IEA
GO:0003382	Process	Epithelial cell morphogenesis	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0005515	Function	Protein binding	IPI	17245431, 23752268, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010837	Process	Regulation of keratinocyte proliferation	IEA
GO:0016514	Component	SWI/SNF complex	IDA	23644491
GO:0016514	Component	SWI/SNF complex	IEA
GO:0019216	Process	Regulation of lipid metabolic process	IEA
GO:0021773	Process	Striatal medium spiny neuron differentiation	IEA
GO:0021902	Process	Commitment of neuronal cell to specific neuron type in forebrain	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0031077	Process	Post-embryonic camera-type eye development	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033153	Process	T cell receptor V(D)J recombination	IEA
GO:0035701	Process	Hematopoietic stem cell migration	IMP	27959755
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043368	Process	Positive T cell selection	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043588	Process	Skin development	IEA
GO:0045664	Process	Regulation of neuron differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	16809611
GO:0046632	Process	Alpha-beta T cell differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048538	Process	Thymus development	IEA
GO:0070231	Process	T cell apoptotic process	IEA
GO:0070233	Process	Negative regulation of T cell apoptotic process	IEA
GO:0070242	Process	Thymocyte apoptotic process	IEA
GO:0070244	Process	Negative regulation of thymocyte apoptotic process	IEA
GO:0071678	Process	Olfactory bulb axon guidance	IEA
GO:0097535	Process	Lymphoid lineage cell migration into thymus	IMP	27959755
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 606558
• HGNC: 13222
• e!Ensembl: ENSG00000127152

Protein

• UniProt ID: Q9C0K0
• Protein name: B-cell lymphoma/leukemia 11B (BCL-11B) (B-cell CLL/lymphoma 11B) (COUP-TF-interacting protein 2) (Radiation-induced tumor suppressor gene 1 protein) (hRit1)
• Protein function: Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the recep
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	428 → 449	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	455 → 477	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	796 → 818	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	824 → 846	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	854 → 877	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in brain and in malignant T-cell lines derived from patients with adult T-cell leukemia/lymphoma.
• Sequence:

  MSRRKQGNPQHLSQRELITPEADHVEAAILEEDEGLEIEEPSGLGLMVGGPDPDLLTCGQ
  CQMNFPLGDILVFIEHKRKQCGGSLGACYDKALDKDSPPPSSRSELRKVSEPVEIGIQVT
  PDEDDHLLSPTKGICPKQENIAGPCRPAQLPAVAPIAASSHPHSSVITSPLRALGALPPC
  LPLPCCSARPVSGDGTQGEGQTEAPFGCQCQLSGKDEPSSYICTTCKQPFNSAWFLLQHA
  QNTHGFRIYLEPGPASSSLTPRLTIPPPLGPEAVAQSPLMNFLGDSNPFNLLRMTGPILR
  DHPGFGEGRLPGTPPLFSPPPRHHLDPHRLSAEEMGLVAQHPSAFDRVMRLNPMAIDSPA
  MDFSRRLRELAGNSSTPPPVSPGRGNPMHRLLNPFQPSPKSPFLSTPPLPPMPPGGTPPP
  QPPAKSKSCEFCGKTFKFQSNLIVHRRSHTGEKPYKCQLCDHACSQASKLKRHMKTHMHK
  AGSLAGRSDDGLSAASSPEPGTSELAGEGLKAADGDFRHHESDPSLGHEPEEEDEEEEEE
  EEELLLENESRPESSFSMDSELSRNRENGGGGVPGVPGAGGGAAKALADEKALVLGKVME
  NVGLGALPQYGELLADKQKRGAFLKRAAGGGDAGDDDDAGGCGDAGAGGAVNGRGGGFAP
  GTEPFPGLFPRKPAPLPSPGLNSAAKRIKVEKDLELPPAALIPSENVYSQWLVGYAASRH
  FMKDPFLGFTDARQSPFATSSEHSSENGSLRFSTPPGDLLDGGLSGRSGTASGGSTPHLG
  GPGPGRPSSKEGRRSDTCEYCGKVFKNCSNLTVHRRSHTGERPYKCELCNYACAQSSKLT
  RHMKTHGQIGKEVYRCDICQMPFSVYSTLEKHMKKWHGEHLLTNDVKIEQAERS

• Sequence length: 894

Pathways

KEGG:

Transcriptional misregulation in cancer

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
Autism spectrum disorder	Pathogenic	rs2503652316	RCV003128003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BCL11B-related disorder	Likely pathogenic	rs1429625290, rs2503635576	RCV004527881 RCV004528768	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined immunodeficiency	Pathogenic	rs750610248	RCV000241534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 49	Pathogenic; Likely pathogenic	rs2139755925, rs2139753037, rs750610248, rs888230251	RCV003314011 RCV002246460 RCV000412543 RCV000678214	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	Likely pathogenic; Pathogenic	rs2139753037, rs2139757991, rs2139953911, rs2139753299, rs2139953103, rs2139757401, rs2139759372, rs2503645451, rs2503635511, rs2503636087, rs2503636657, rs2503648320, rs2503648198, rs2503641685, rs888230251, rs1555376035, rs1555376017, rs1555384300, rs1555376234, rs1595214071, rs1595215462, rs1886427331, rs1886445034, rs1886447945, rs1886394733, rs1886522103, rs1886396455	RCV003984861 RCV003333164 RCV003984859 RCV001542096 RCV001716991 RCV001717980 RCV003984864 RCV002272814 RCV002280363 RCV002463989 RCV002468768 RCV002471298 RCV002472318 RCV003149139 RCV003444029 RCV000995706 RCV000678215 RCV000678216 RCV000678217 RCV000678218 RCV000995707 RCV000995708 RCV003325225 RCV001253162 RCV001254120 RCV005864554 RCV001270444 RCV001290207	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Likely pathogenic	rs2139755464	RCV001526554	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 49, SEVERE COMBINED	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY-SPEECH DELAY-DYSMORPHIC FEATURES-T CELL ABNORMALITIES SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	21225930, 24504345		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	26757980, 29749698		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24469055, 27226556		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	15541474, 17173069, 22867996, 23383087		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG	27959755		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	23284675		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22817815	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	19768483, 26563995		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30778698	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	36717793	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	28794504		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28625384		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28625384		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30088373, 30426778		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30426778	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	30778698	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	18378158	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31457080, 31457081		★☆☆☆☆ Found in Text Mining only
Autosomal dominant spastic paraplegia type 3	Spastic Paraplegia	Orphanet			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	22867996, 29514917		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	21756541, 28794504		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26742010		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	19432895		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	26714497		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	39455000	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18378158	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25205038		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23936147	Inhibit	★☆☆☆☆ Found in Text Mining only
Bulbar Palsy Progressive	Bulbar palsy	Pubtator	35925862	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37293953	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	20824091	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36423520, 36893885, 37293953, 39516467	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26742010		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29073620, 30223276, 31634900		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Pubtator	24896146	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26757980		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	26757980	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	26757980, 27101134, 30732632, 33568805, 36140671, 36184070	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22068335		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27101134	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	35076175, 36683525	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	14500364		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31475182		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17173069, 21575156, 21756541, 24504345, 28424591, 28669733, 28794504, 29091759		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31797156		★☆☆☆☆ 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	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23298232, 36209353	Associate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG	27959755		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	23791108, 30024444		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30954776		★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	BEFREE	31067316		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	31067316		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	21300445		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	23284675		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	23284675		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31347296, 36683525, 39455000	Associate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Donohue Syndrome	Leprechaunism syndrome	BEFREE	8606887		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	28223108		★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren Contracture	GWASCAT_DG	28886342		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	26714497		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	24969372		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12565905, 15465497, 15664173, 16091750, 17631058, 18831712, 19092943, 19251658, 20876176, 21878675, 21912641, 22450536, 22629441, 23112752, 23144223, 23791108, 24458984, 24939608, 25049390, 25124994, 25232744, 25356899, 25511173, 25959749, 26453795, 26714497, 26757980, 27101134, 27109146		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	34808209	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	23284675		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26617739		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26617739	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31729196		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	31729196		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28418860		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28418860		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36576648	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	23527175, 29416716		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	30118386		★☆☆☆☆ Found in Text Mining only
Fetal ascites	Fetal ascites	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	22126861		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	25556567	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32831193	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26096706		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	22126861		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	26757980, 27101134	Associate	★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	15618458		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	19399189	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	36593444	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	20824091	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	15104287, 24504345		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	LHGDN	15104287, 15325104		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	20824091		★☆☆☆☆ Found in Text Mining only
Hematoma	Hematoma	Pubtator	34857025	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	17173069		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	34857025	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	11342696, 11839840, 14695538, 15517445, 16143870, 16339213, 16401858, 17035675, 18644145, 18664244, 20550563, 20718791, 20816793, 21220294, 21550242, 22232211, 23079343, 23233086, 24473461, 24969372, 25421405, 25454648, 25751282, 25761634, 26208798, 26600529, 26888483, 27601211, 28240257, 28736820, 29310658, 30718476, 31231294, 31594988, 31745725, 9042923		★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	BEFREE	11839840, 12499504, 14607301, 14695538, 15477516, 16143870, 16339213, 16401858, 16533974, 17035675, 17427918, 19459885, 19735987, 19768483, 21550242, 22340599, 24969372		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	BEFREE	28471035		★☆☆☆☆ Found in Text Mining only
Hereditary sensory and autonomic neuropathy type 1	Sensory And Autonomic Neuropathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	BEFREE	21194679		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	ORPHANET_DG	21194679		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	18595722, 28424591, 31447328		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	31447328	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	27109146		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	33686258, 35397126	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis pilaris	Hyperkeratosis Pilaris	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	36683525	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30116202		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26714497, 30024444, 30898653		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26714497, 30898653		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	32378592	Associate	★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 49	Immunodeficiency	GENOMICS_ENGLAND_DG	27959755		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IMMUNODEFICIENCY 49	Immunodeficiency	UNIPROT_DG	27959755, 29985992		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IMMUNODEFICIENCY 49	Immunodeficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IMMUNODEFICIENCY 49	Immunodeficiency	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29985992		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23233086		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21875956		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	23284675		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	GENOMICS_ENGLAND_DG	29985992		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	25124994		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	29691679, 29985992		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31347296	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	36717793	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	26757980		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	29039465	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	26757980	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	26757980	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15104287		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	33876209, 34103329, 35904492, 36376973, 36947815	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24441149, 26186352, 33683343, 33876209, 34103329	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15104287, 24441149, 26186352, 29441563		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	15325104		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	20824091, 22867996		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	14767908		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31247273		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	30592264	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34846918, 35256587, 35459868, 36264074, 37903990	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36586539	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12565905, 16484591, 17173069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	CTD_human_DG	17941976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	39984035	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	28979315, 29663029		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	28979315, 29663029		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	28979315, 29663029		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	28288848		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26617739		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28418860		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31247273		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29073620, 30223276, 31634900		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12445236, 28341124		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26742010		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15668700, 17173069, 19399189, 19509229, 21756541, 22334400, 22450536, 22753489, 24122342, 26096706, 26443804, 26617739, 26742010, 26757980, 29734338, 30641296, 30872527, 31275860, 31634900		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25827435		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	21300445		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21300445, 27203177		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Disorders	Motor Disorders	BEFREE	23233086		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	28736820		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	36359747	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	15786464		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	17502470, 20932283, 23483706		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12565905, 15465497, 15664173, 16091750, 17631058, 18831712, 19092943, 19251658, 20876176, 21878675, 21912641, 22450536, 22629441, 23112752, 23144223, 23791108, 24458984, 24939608, 25049390, 25124994, 25232744, 25356899, 25511173, 25959749, 26453795, 26714497, 26757980, 27101134, 27109146		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36744877	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	36744877	Stimulate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	28288848	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	29356608		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	19432895		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31289275		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	19399189		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10845927, 17173069, 19399189, 20824091, 21878675, 22450536, 23671688, 24469055, 25486566, 25827435, 26617739, 28669733, 28687621, 28832662, 29073620, 29561763, 30223276, 31275860		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34782662	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	25761634, 29180453, 29310658		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16950772, 28687621		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21220294, 26365416, 31447328	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	12432827, 21220294, 26365416, 28240257, 9736780		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	12432827, 29985992, 31347296		★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	22703882	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	17502470, 29768202		★☆☆☆☆ Found in Text Mining only
NEUROPATHY, HEREDITARY SENSORY, TYPE ID	Neuropathy	CLINVAR_DG	11685207, 20816793, 20947813, 23079343, 23233086, 24482476, 25637064, 25761634		★☆☆☆☆ Found in Text Mining only
NEUROPATHY, HEREDITARY SENSORY, TYPE ID	Neuropathy	GENOMICS_ENGLAND_DG	15517445, 21194679, 22340599		★☆☆☆☆ Found in Text Mining only
NEUROPATHY, HEREDITARY SENSORY, TYPE ID	Neuropathy	UNIPROT_DG	21194679		★☆☆☆☆ Found in Text Mining only
NEUROPATHY, HEREDITARY SENSORY, TYPE ID	Neuropathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	23791108, 25049390, 25124994, 25959749, 26518681, 26714497, 26757980, 27101134, 27109146, 27226556, 28347726, 29734338, 30024444, 30872527, 30898653, 31219622, 31368652		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	ORPHANET_DG	23791108		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	CLINGEN_DG	23791108, 23875798, 25049390, 25124994, 25959749, 27101134, 27226556		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	CLINVAR_DG	23791108, 24469055, 24803665, 24901346, 24939608, 25049390, 25124994, 25959749, 26714497, 26757980		★☆☆☆☆ Found in Text Mining only
Noonan syndrome	Noonan Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	25049390, 26757980, 27101134, 27226556, 33686258, 35151252, 35778409, 36140671, 36184070, 36430334, 36593444, 38254922	Associate	★☆☆☆☆ Found in Text Mining only
Noonan Syndrome 1	Noonan Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
NOONAN SYNDROME 8	Noonan Syndrome	GENOMICS_ENGLAND_DG	23791108, 24939608, 30712878		★☆☆☆☆ Found in Text Mining only
NOONAN SYNDROME 8	Noonan Syndrome	UNIPROT_DG	23791108, 25959749		★☆☆☆☆ Found in Text Mining only
NOONAN SYNDROME 8	Noonan Syndrome	CLINVAR_DG	23791108, 2439608, 24469055, 24901346, 24939608, 25049390, 25124994, 25959749, 26242988, 26446362, 2657980, 26714497, 26757980, 27101134, 27109146, 27226556		★☆☆☆☆ Found in Text Mining only
NOONAN SYNDROME 8	Noonan Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	LHGDN	15596607		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	19573020, 19652243, 20932283	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	BEFREE	26888483		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penetrating foot ulcers	Penetrating Foot Ulcers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	19735987		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	19735987		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35925862	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	19735987		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	26757980, 29749698		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	12661009, 14500364, 15668700, 17308084, 18079734, 21080944, 21575156, 21756541, 21878675, 22450536, 25023966, 25486566, 26096706, 28232744, 29441563		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	20972433		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12445236, 28341124		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	26714497		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	33393628	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30954776		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	23108492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	32701935	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	23527175	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	25056061, 26198764, 28991256, 29483656, 30285260, 31268507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	30040823		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	22340599		★☆☆☆☆ Found in Text Mining only
Sensory Neuropathy, Hereditary	Sensory Neuropathy, Hereditary	BEFREE	22340599, 24459106, 29180453, 30666337		★☆☆☆☆ Found in Text Mining only
Sensory Neuropathy, Hereditary	Sensory Neuropathy, Hereditary	GENOMICS_ENGLAND_DG	22340599		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	27959755		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	15596607, 15742100, 19735987, 30666337		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	BEFREE	15517445, 15596607, 7719135		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 3 autosomal dominant	Spastic paraplegia	Pubtator	19085270, 19573020, 19652243, 24473461	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 3, autosomal dominant	Spastic paraplegia	ORPHANET_DG	11685207		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 3, autosomal dominant	Spastic paraplegia	UNIPROT_DG	11685207, 12112092, 12939451, 14695538, 15184642, 16533974, 17321752, 17427918, 20718791, 20932283, 21336785, 23483706, 24473461, 24604904		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 3, autosomal dominant	Spastic paraplegia	CLINVAR_DG	11685207, 12112092, 12499504, 12939451, 14607301, 15184642, 15477516, 15517445, 15596607, 15742100, 16401858, 16537571, 17321752, 17502470, 17992088, 19459885, 19652243, 19768483, 20718791, 20816793, 20932283, 20947813, 21336785, 21368113, 23079343, 23233086, 23483706, 23999326, 24417445, 24451228, 24482476, 25454648, 25637064, 25761634, 26671083		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 3, autosomal dominant	Spastic paraplegia	GENOMICS_ENGLAND_DG	15517445, 22340599, 29691679		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 3, autosomal dominant	Spastic paraplegia	BEFREE	19652243, 22340599, 25193411, 25761634, 26671083		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 3, autosomal dominant	Spastic paraplegia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	17515546		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 4 autosomal dominant	Spastic paraplegia	Pubtator	7825576, 9847083	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 4, autosomal dominant	Spastic Paraplegia	BEFREE	16401858, 20932283		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	16339213, 18644145, 19085270, 19494379, 19652243, 20932283, 21220294, 21368113, 22703882, 22817815, 23969831, 25421405, 26600529, 27601211, 30778698, 31594988, 33287888, 34808209, 35925862, 36359747, 9042923	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	LHGDN	12112092, 14607301, 15477516, 16339213, 16401858, 17380240, 17502470, 17531128		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	15477516, 16009769, 16401858, 16533974, 17502470, 18644145, 19085270, 19423133, 19494379, 19652243, 20932283, 21194679, 21220294, 23079343, 23233086, 24908668, 25454648, 25761634, 26208798, 26888483, 27638887, 28240257, 28736820, 29180453, 30718476, 31239341, 31594988		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	GENOMICS_ENGLAND_DG	29691679		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	30778698	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	38634365	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30348939		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19399189	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19399189, 32588101, 34287293	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19399189		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35691615, 38035067, 39273151	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	22819381		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29561763		★☆☆☆☆ Found in Text Mining only
Upper Extremity Deformities Congenital	Upper extremity deformity, congenital	Pubtator	35925862	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	27226556	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	29973135	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only