IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma)

Gene

• Entrez ID: 8517
• Gene name: Inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
• Gene symbol: IKBKG
• Synonyms (NCBI Gene): AMCBX1, EDAID1, FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG, IMD33, IP, IP1, IP2, IPD2, NEMO, SAIDX, ZC2HC9
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853321	A>G	Pathogenic	Terminator codon variant, non coding transcript variant, stop lost
rs137853322	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137853323	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137853324	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137853325	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137853326	G>A,T	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137853327	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137853328	T>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137853329	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137853330	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs137853331	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137853332	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs179363866	C>G,T	Pathogenic, not-provided	Intron variant, missense variant, coding sequence variant
rs179363867	G>A	Likely-pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs179363896	G>A	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs386134238	GAG>-	Likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs386134240	A>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs782178147	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs782604431	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1057517746	A>G,T	Pathogenic	Splice acceptor variant, intron variant
rs1057517874	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057520292	G>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057521138	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1064793564	T>C	Pathogenic	Stop lost, non coding transcript variant, terminator codon variant
rs1064794135	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1064794340	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1085307883	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs1085307986	G>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs1085308018	A>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1156900338	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant
rs1237384577	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs1557236015	G>A	Pathogenic	Splice acceptor variant
rs1557236445	->CAGG	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1557236517	->CAGGCCGCCTC	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1557236565	C>G	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1557236571	T>G	Pathogenic	Intron variant, splice donor variant
rs1557236929	G>C	Likely-pathogenic	Terminator codon variant, stop lost, non coding transcript variant
rs1569556522	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569556603	G>A	Pathogenic	Intron variant
rs1569556615	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051313	hsa-miR-15a-5p	CLASH	23622248
MIRT613718	hsa-miR-8485	HITS-CLIP	21572407
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23313552
MIRT613719	hsa-miR-4801	HITS-CLIP	23313552
MIRT613718	hsa-miR-8485	HITS-CLIP	23313552
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23313552
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT498950	hsa-miR-6760-5p	HITS-CLIP	23313552
MIRT691759	hsa-miR-1321	HITS-CLIP	23313552
MIRT691758	hsa-miR-4739	HITS-CLIP	23313552
MIRT691757	hsa-miR-4756-5p	HITS-CLIP	23313552
MIRT691756	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT691755	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT691754	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT691753	hsa-miR-3162-5p	HITS-CLIP	23313552
MIRT691752	hsa-miR-887-3p	HITS-CLIP	23313552
MIRT691751	hsa-miR-5582-5p	HITS-CLIP	23313552
MIRT691750	hsa-miR-3929	HITS-CLIP	23313552
MIRT691749	hsa-miR-4419b	HITS-CLIP	23313552
MIRT691748	hsa-miR-4478	HITS-CLIP	23313552
MIRT691747	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT691746	hsa-miR-488-5p	HITS-CLIP	23313552
MIRT691745	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT691744	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT691743	hsa-miR-1827	HITS-CLIP	23313552
MIRT691742	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT691741	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT691740	hsa-miR-2054	HITS-CLIP	23313552
MIRT691739	hsa-miR-665	HITS-CLIP	23313552
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT636485	hsa-miR-1284	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT527596	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT527595	hsa-miR-4320	PAR-CLIP	22012620
MIRT527594	hsa-miR-8056	PAR-CLIP	22012620
MIRT527593	hsa-miR-513b-5p	PAR-CLIP	22012620
MIRT498953	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT498952	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT498951	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT498950	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT498949	hsa-miR-3150b-3p	PAR-CLIP	24398324
MIRT498947	hsa-miR-4784	PAR-CLIP	24398324
MIRT498948	hsa-miR-4419a	PAR-CLIP	24398324
MIRT498946	hsa-miR-4510	PAR-CLIP	24398324
MIRT498945	hsa-miR-6127	PAR-CLIP	24398324
MIRT498944	hsa-miR-6129	PAR-CLIP	24398324
MIRT498943	hsa-miR-6130	PAR-CLIP	24398324
MIRT498942	hsa-miR-6133	PAR-CLIP	24398324
MIRT498941	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT498939	hsa-miR-4306	PAR-CLIP	24398324
MIRT498940	hsa-miR-4644	PAR-CLIP	24398324
MIRT498938	hsa-miR-6878-5p	PAR-CLIP	24398324
MIRT498937	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT498936	hsa-miR-8085	PAR-CLIP	24398324
MIRT613717	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT613717	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT613716	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT613716	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT613712	hsa-miR-3941	HITS-CLIP	27418678
MIRT613712	hsa-miR-3941	HITS-CLIP	27418678
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	27418678
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	27418678
MIRT613715	hsa-miR-603	HITS-CLIP	27418678
MIRT613715	hsa-miR-603	HITS-CLIP	27418678
MIRT613718	hsa-miR-8485	HITS-CLIP	27418678
MIRT613718	hsa-miR-8485	HITS-CLIP	27418678
MIRT613718	hsa-miR-8485	HITS-CLIP	21572407
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23313552
MIRT613719	hsa-miR-4801	HITS-CLIP	23313552
MIRT613718	hsa-miR-8485	HITS-CLIP	23313552
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23313552
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT498950	hsa-miR-6760-5p	HITS-CLIP	23313552
MIRT691759	hsa-miR-1321	HITS-CLIP	23313552
MIRT691758	hsa-miR-4739	HITS-CLIP	23313552
MIRT691757	hsa-miR-4756-5p	HITS-CLIP	23313552
MIRT691756	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT691755	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT691754	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT691753	hsa-miR-3162-5p	HITS-CLIP	23313552
MIRT691752	hsa-miR-887-3p	HITS-CLIP	23313552
MIRT691751	hsa-miR-5582-5p	HITS-CLIP	23313552
MIRT691750	hsa-miR-3929	HITS-CLIP	23313552
MIRT691749	hsa-miR-4419b	HITS-CLIP	23313552
MIRT691748	hsa-miR-4478	HITS-CLIP	23313552
MIRT691747	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT691746	hsa-miR-488-5p	HITS-CLIP	23313552
MIRT691745	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT691744	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT691743	hsa-miR-1827	HITS-CLIP	23313552
MIRT691742	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT691741	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT691740	hsa-miR-2054	HITS-CLIP	23313552
MIRT691739	hsa-miR-665	HITS-CLIP	23313552
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT636485	hsa-miR-1284	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT527596	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT527595	hsa-miR-4320	PAR-CLIP	22012620
MIRT527594	hsa-miR-8056	PAR-CLIP	22012620
MIRT527593	hsa-miR-513b-5p	PAR-CLIP	22012620
MIRT498953	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT498952	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT498951	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT498950	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT498949	hsa-miR-3150b-3p	PAR-CLIP	24398324
MIRT498947	hsa-miR-4784	PAR-CLIP	24398324
MIRT498948	hsa-miR-4419a	PAR-CLIP	24398324
MIRT498946	hsa-miR-4510	PAR-CLIP	24398324
MIRT498945	hsa-miR-6127	PAR-CLIP	24398324
MIRT498944	hsa-miR-6129	PAR-CLIP	24398324
MIRT498943	hsa-miR-6130	PAR-CLIP	24398324
MIRT498942	hsa-miR-6133	PAR-CLIP	24398324
MIRT498941	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT498939	hsa-miR-4306	PAR-CLIP	24398324
MIRT498940	hsa-miR-4644	PAR-CLIP	24398324
MIRT498938	hsa-miR-6878-5p	PAR-CLIP	24398324
MIRT498937	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT498936	hsa-miR-8085	PAR-CLIP	24398324
MIRT1063082	hsa-miR-149	CLIP-seq
MIRT1063083	hsa-miR-3064-5p	CLIP-seq
MIRT1063084	hsa-miR-4643	CLIP-seq
MIRT1063085	hsa-miR-466	CLIP-seq
MIRT1063086	hsa-miR-4694-3p	CLIP-seq
MIRT1063087	hsa-miR-4698	CLIP-seq
MIRT1063088	hsa-miR-4794	CLIP-seq
MIRT1063089	hsa-miR-604	CLIP-seq
MIRT1063090	hsa-miR-647	CLIP-seq
MIRT2247227	hsa-miR-3177-3p	CLIP-seq
MIRT2451675	hsa-miR-324-5p	CLIP-seq
MIRT2451676	hsa-miR-4474-3p	CLIP-seq
MIRT2451677	hsa-miR-4642	CLIP-seq
MIRT2451678	hsa-miR-4701-5p	CLIP-seq
MIRT2451679	hsa-miR-588	CLIP-seq
MIRT2451680	hsa-miR-663b	CLIP-seq
MIRT2550705	hsa-miR-1225-3p	CLIP-seq
MIRT2550706	hsa-miR-125a-5p	CLIP-seq
MIRT2550707	hsa-miR-125b	CLIP-seq
MIRT2550708	hsa-miR-1825	CLIP-seq
MIRT2550709	hsa-miR-2355-5p	CLIP-seq
MIRT2550710	hsa-miR-3189-5p	CLIP-seq
MIRT2550711	hsa-miR-3194-3p	CLIP-seq
MIRT2550712	hsa-miR-371-3p	CLIP-seq
MIRT2550713	hsa-miR-4267	CLIP-seq
MIRT2550714	hsa-miR-4271	CLIP-seq
MIRT2550715	hsa-miR-4277	CLIP-seq
MIRT2550716	hsa-miR-4287	CLIP-seq
MIRT2550717	hsa-miR-4319	CLIP-seq
MIRT2550718	hsa-miR-4323	CLIP-seq
MIRT2550719	hsa-miR-4324	CLIP-seq
MIRT2550720	hsa-miR-4469	CLIP-seq
MIRT2550721	hsa-miR-4685-3p	CLIP-seq
MIRT2550722	hsa-miR-4713-5p	CLIP-seq
MIRT2550723	hsa-miR-4715-3p	CLIP-seq
MIRT2550724	hsa-miR-4725-3p	CLIP-seq
MIRT2550725	hsa-miR-4727-5p	CLIP-seq
MIRT2550726	hsa-miR-4732-3p	CLIP-seq
MIRT2550727	hsa-miR-4755-3p	CLIP-seq
MIRT2550728	hsa-miR-4769-3p	CLIP-seq
MIRT2550729	hsa-miR-526b	CLIP-seq
MIRT2550730	hsa-miR-617	CLIP-seq
MIRT2550731	hsa-miR-670	CLIP-seq
MIRT2550732	hsa-miR-765	CLIP-seq
MIRT2550705	hsa-miR-1225-3p	CLIP-seq
MIRT2550706	hsa-miR-125a-5p	CLIP-seq
MIRT2550707	hsa-miR-125b	CLIP-seq
MIRT2550711	hsa-miR-3194-3p	CLIP-seq
MIRT2550713	hsa-miR-4267	CLIP-seq
MIRT2550714	hsa-miR-4271	CLIP-seq
MIRT2550715	hsa-miR-4277	CLIP-seq
MIRT2550716	hsa-miR-4287	CLIP-seq
MIRT2550717	hsa-miR-4319	CLIP-seq
MIRT2550718	hsa-miR-4323	CLIP-seq
MIRT2550719	hsa-miR-4324	CLIP-seq
MIRT2550720	hsa-miR-4469	CLIP-seq
MIRT2550721	hsa-miR-4685-3p	CLIP-seq
MIRT2550722	hsa-miR-4713-5p	CLIP-seq
MIRT2550723	hsa-miR-4715-3p	CLIP-seq
MIRT2550724	hsa-miR-4725-3p	CLIP-seq
MIRT2550725	hsa-miR-4727-5p	CLIP-seq
MIRT2550726	hsa-miR-4732-3p	CLIP-seq
MIRT2550727	hsa-miR-4755-3p	CLIP-seq
MIRT2550728	hsa-miR-4769-3p	CLIP-seq
MIRT2550731	hsa-miR-670	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IPI	17314283
GO:0000922	Component	Spindle pole	IDA	24561039
GO:0001782	Process	B cell homeostasis	IEA
GO:0005515	Function	Protein binding	IPI	9751060, 11113112, 11418127, 11551959, 12486103, 14653779, 14743216, 15474016, 15601829, 15749833, 16126728, 16129692, 16319058, 16874300, 16938294, 17363905, 17363973, 17568778, 17948050, 18266467, 18287044, 18462684, 18583959, 19365808, 19373254, 19666608, 19706536, 19875381, 2001
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	14651848
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11113112, 14651848
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	11113112
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	34721373
GO:0006915	Process	Apoptotic process	TAS	9927690
GO:0006954	Process	Inflammatory response	TAS	18626576
GO:0006955	Process	Immune response	TAS	9751060
GO:0006974	Process	DNA damage response	IDA	14651848
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	25861989
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 1493333, 9244310, 9346484, 34721373
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	20434986
GO:0007249	Process	Canonical NF-kappaB signal transduction	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	TAS	9927690, 18626576
GO:0008270	Function	Zinc ion binding	IEA
GO:0008385	Component	IkappaB kinase complex	IBA
GO:0008385	Component	IkappaB kinase complex	IDA	23776175
GO:0008385	Component	IkappaB kinase complex	IEA
GO:0008385	Component	IkappaB kinase complex	IPI	20434986
GO:0008385	Component	IkappaB kinase complex	TAS	18626576
GO:0009615	Process	Response to virus	TAS	18626576
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016239	Process	Positive regulation of macroautophagy	IEA
GO:0016239	Process	Positive regulation of macroautophagy	ISS
GO:0019904	Function	Protein domain specific binding	IPI	15341735
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IDA	27777308
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23453807
GO:0032991	Component	Protein-containing complex	IDA	11113112
GO:0035591	Function	Signaling adaptor activity	IDA	27777308
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0042742	Process	Defense response to bacterium	IDA	22607974, 27777308
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	18462684, 20211142, 21988832, 30561431
GO:0042803	Function	Protein homodimerization activity	IDA	23091055
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	9346484, 17702576
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	18287044, 27777308
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	25038658
GO:0043276	Process	Anoikis	IEA
GO:0043276	Process	Anoikis	ISS
GO:0045087	Process	Innate immune response	TAS	18626576
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23091055
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	23091055
GO:0050852	Process	T cell receptor signaling pathway	NAS	15125833
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IDA	18287044, 27777308
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	15620648, 18287044
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS	18626576
GO:0051650	Process	Establishment of vesicle localization	IMP	24561039
GO:0065003	Process	Protein-containing complex assembly	IDA	11113112
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IBA
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IDA	18287044
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IEA
GO:0072686	Component	Mitotic spindle	IDA	24561039
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1990450	Function	Linear polyubiquitin binding	IDA	23453807, 27777308
GO:1990459	Function	Transferrin receptor binding	IPI	23016877
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	TAS	27777308

Other IDs

• MIM: 300248
• HGNC: 5961
• e!Ensembl: ENSG00000269335

Protein

• UniProt ID: Q9Y6K9
• Protein name: NF-kappa-B essential modulator (NEMO) (FIP-3) (IkB kinase-associated protein 1) (IKKAP1) (Inhibitor of nuclear factor kappa-B kinase subunit gamma) (I-kappa-B kinase subunit gamma) (IKK-gamma) (IKKG) (IkB kinase subunit gamma) (NF-kappa-B essential modifi
• Protein function: Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor (PubMed:14695475, PubMed:20724660, PubM
• PDB: 2JVX, 2JVY, 3BRT, 3BRV, 3CL3, 3FX0, 4BWN, 5AAY, 5LDE, 6MI3, 6MI4, 6XX0, 6YEK, 7T2U, 7TV4, 8U7C, 9AZJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11577	NEMO	44 → 111	NF-kappa-B essential modulator NEMO	Family
  PF16516	CC2-LZ	247 → 344	Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator	Coiled-coil
  PF18414	zf_C2H2_10	393 → 418		Domain

• Tissue specificity: TISSUE SPECIFICITY: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
• Sequence:

  MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQE
  LRDAIRQSNQILRERCEELLHFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQ
  ALREVEHLKRCQQQMAEDKASVKAQVTSLLGELQESQSRLEAATKECQALEGRARAASEQ
  ARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQAASEEKRKLAQLQVAYHQLFQE
  YDNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHKIVMETVPV
  LKAQADIYKADFQAERQAREKLAEKKELLQEQLEQLQREYSKLKASCQESARIEDMRKRH
  VEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKCQYQAPDMDTLQIHVMECIE

• Sequence length: 419

Pathways

KEGG:

Antifolate resistance
MAPK signaling pathway
Ras signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
TNF signaling pathway
Adipocytokine signaling pathway
Alcoholic liver disease
Alzheimer disease
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Chagas disease
Toxoplasmosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Viral carcinogenesis
Chemical carcinogenesis - reactive oxygen species
Pancreatic cancer
Prostate cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Primary immunodeficiency
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

Activation of NF-kappaB in B cells
ER-Phagosome pathway
NOD1/2 Signaling Pathway
TICAM1, RIP1-mediated IKK complex recruitment
RIP-mediated NFkB activation via ZBP1
Downstream TCR signaling
FCERI mediated NF-kB activation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
activated TAK1 mediates p38 MAPK activation
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
SUMOylation of immune response proteins
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
IKBKB deficiency causes SCID
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
IkBA variant leads to EDA-ID
CLEC7A (Dectin-1) signaling
MAP3K8 (TPL2)-dependent MAPK1/3 activation
Ub-specific processing proteases
Ovarian tumor domain proteases
Interleukin-1 signaling
TRAF6 mediated NF-kB activation
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
IRAK1 recruits IKK complex
IKK complex recruitment mediated by RIP1
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation

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
Autoinflammatory disease, X-linked	Pathogenic	rs2071121693, rs2148382857, rs2148382861	RCV002250444 RCV002250446 RCV002250447	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal dysplasia and immunodeficiency 1	Pathogenic; Likely pathogenic	rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2148385141, rs137853330, rs782178147, rs386134238, rs386134240, rs179363867	RCV000012206 RCV000012207 RCV000012211 RCV004820819 RCV000012215 RCV000012216 RCV000012217 RCV000012218 RCV000012221 RCV000012209 RCV000030049 RCV000030051 RCV000589891	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED	Pathogenic; Likely pathogenic	rs137853321, rs137853327, rs1557236796, rs2071161458	RCV000012203 RCV000024285 RCV001172480 RCV001172484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IKBKG-related disorder	Pathogenic	rs2071120876	RCV005869742	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 33	Likely pathogenic; Pathogenic	rs2148368738, rs2148385355, rs1569556522, rs137853331, rs137853332, rs179363866, rs782178147, rs2071141016, rs2071059718, rs2070806148	RCV001808923 RCV003151721 RCV000012220 RCV000012222 RCV000012223 RCV000012224 RCV002506000 RCV001172476 RCV001172477 RCV001172483	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 33, MALE-RESTRICTED	Pathogenic	rs2071101767	RCV000757923	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Incontinentia pigmenti syndrome	Pathogenic; Likely pathogenic	rs1569556615, rs137853321, rs2070949441, rs137853323, rs137853327, rs2071167272, rs2523366018, rs2523366134, rs782178147, rs1557236796, rs1557236445, rs2071101767, rs2071161458, rs2071063100, rs2071133474	RCV000012201 RCV000170521 RCV000012204 RCV000012205 RCV001172474 RCV000012213 RCV003328543 RCV004577432 RCV001172473 RCV001172481 RCV003987618 RCV001172475 RCV001172485 RCV001199162 RCV001251338	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS)	Likely pathogenic	rs2071121693	RCV001310079	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHIDROTIC ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY, OSTEOPETROSIS, LYMPHEDEMA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	Uncertain significance	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOCH SULZBERGER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common variable immunodeficiency	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEFICIENCY OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA AND IMMUNE DEFICIENCY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IGM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory nipple	Accessory Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Accessory rib	Accessory Rib	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired deformity of finger	Mallet finger	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	28515148		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	Anemia	CLINVAR_DG	10502785, 11601226, 16329560, 29339739, 30315739		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhidrosis	Anhidrosis	BEFREE	18412279, 26802121		★☆☆☆☆ Found in Text Mining only
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	12651765, 16532398, 24100029, 29155098		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	30659980	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22235006		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22235006	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	20412081, 26812624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	26812624	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blister	Blister	Pubtator	35768795	Associate	★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	GENOMICS_ENGLAND_DG	10839543, 16818673, 28870493, 30905793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	UNIPROT_DG	10839543, 11590134, 15229184, 17728323, 19033441, 20434027, 24339369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	10911992, 11179023, 11185738, 11241484, 11590134, 11709543, 11746157, 12140463, 12497627, 1267462, 14674911, 15164415, 15229184, 16228229, 16399796, 16532398, 16647846, 16844507, 17224368, 17728323, 18241293, 18350553, 19068214, 19250414, 19603533, 20434027, 20499091, 20591917, 20890435, 21286028, 21931280, 22121116, 22453515, 23398170, 23405946, 23406512, 23652938, 23802866, 23932762, 24324710, 24339369, 24636437, 24682289, 25944529, 26117626, 26269396, 26437686, 26812624, 28249776, 28533687, 28628231, 28702714, 28870493, 29171168, 29520766, 29630932, 30036148, 30151858, 30157809, 30422821, 30659980, 30905793, 30913450, 3876068, 6689930, 7116673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	LHGDN	11673821, 11709543, 17401323, 17910706, 18841575, 19149237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	22805531, 27411570	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19327867, 21383699, 28515148		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28402272, 28990063, 32736587	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18313693, 19033441, 28931678, 40028213	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	24109239	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37847185	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	30616912		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31128214		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	31319593		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	12651765, 14523047, 15577852, 16228229, 16532398, 18178844, 20499091, 21622647, 22517901, 23405946, 24100029, 28993958, 29155098		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22798194		★☆☆☆☆ Found in Text Mining only
Chronic osteomyelitis	Osteomyelitis	BEFREE	30816459		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29520766		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	26812624		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	28679735	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	39337357	Associate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	26230867		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	20652909	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital absence of breast	Breast aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19850942		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	15620648, 26215868	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	17728323		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	11185738		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	16532398, 22156202		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysfibrinogenemia	Pubtator	19903677, 20542322	Associate	★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysgammaglobulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	11224521, 15356572, 16333836, 18412279, 20542322, 21309033, 23708964, 24682681, 26117626, 26802121, 26812624, 28993958		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	11673821, 12651765, 16532398, 18313693, 18851874, 20652730, 21309033, 21622647, 26812624, 29155098, 30422821, 39264518	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	15356572, 16379012, 18313693		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia 1 Anhidrotic	Ectodermal dysplasia	Pubtator	11047757, 14523047, 15358621, 21704885, 22517901, 30422821, 35003103	Associate	★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	BEFREE	28993958		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal dysplasia	BEFREE	28993958		★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia hypohidrotic with immune deficiency	Ectodermal dysplasia	Pubtator	11047757, 12045264, 16794254, 18412279, 22156202, 27411570	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	Ectodermal Dysplasia	GENOMICS_ENGLAND_DG	11047757, 11242109, 16818673		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	Ectodermal Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	Ectodermal Dysplasia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	Ectodermal Dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	BEFREE	11242109, 12651765, 15661018, 18350553, 21622647, 21734245, 22236433, 22517901, 22635013, 26117626, 26269396, 28702714, 28993958, 30422821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	CLINVAR_DG	15833888, 16532398, 16818673, 16950813, 17072331, 18851874, 21622647, 24682681, 26117626, 29077208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalitis	Encephalitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous Lipomatosis	BEFREE	26706010		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	30285829	Inhibit	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	24979756		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	39337357	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	30285578		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	22236433		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19850942		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	29784904	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	21649803		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	22672522	Associate	★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	BEFREE	15358621, 18178844, 23538518		★☆☆☆☆ Found in Text Mining only
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia	GENOMICS_ENGLAND_DG	11047757, 16818673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia	UNIPROT_DG	11047757, 11224521, 11242109, 12045264, 14651848, 15100680, 16547522, 19185524, 21606507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia	BEFREE	11224521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperimmunoglobulin M syndrome	Hyperimmunoglobulin M Syndrome	BEFREE	18178844		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	39264518	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	24581859		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrotic ectodermal dysplasia with immunodeficiency	Hyper-IgM Immunodeficiency, With Hypohidrotic Ectodermal Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28891448, 30036148		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	11047757, 16794254, 20542322, 21704885, 22235006	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	26117626		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 31B	Immunodeficiency	BEFREE	23622315		★☆☆☆☆ Found in Text Mining only
Immunodeficiency without anhidrotic ectodermal dysplasia	Immunodeficiency Without Anhidrotic Ectodermal Dysplasia	GENOMICS_ENGLAND_DG	11047757, 16818673		★☆☆☆☆ Found in Text Mining only
Immunodeficiency without anhidrotic ectodermal dysplasia	Immunodeficiency Without Anhidrotic Ectodermal Dysplasia	UNIPROT_DG	15100680, 15356572		★☆☆☆☆ Found in Text Mining only
Immunodeficiency without anhidrotic ectodermal dysplasia	Immunodeficiency Without Anhidrotic Ectodermal Dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Immunodeficiency without anhidrotic ectodermal dysplasia	Immunodeficiency Without Anhidrotic Ectodermal Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	20542322, 24100029		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Incontinentia pigmenti	Incontinentia Pigmenti Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
INCONTINENTIA PIGMENTI, ATYPICAL	Incontinentia Pigmenti Syndrome	BEFREE	25441681		★☆☆☆☆ Found in Text Mining only
INCONTINENTIA PIGMENTI, ATYPICAL	Incontinentia Pigmenti Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26812624, 28513998		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	26812624	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	17728323		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	26802121	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	22590573		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30943066		★☆☆☆☆ Found in Text Mining only
Klippel-Trenaunay-Weber Syndrome	Klippel-Trenaunay-Weber Syndrome	BEFREE	26706010		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20065354	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	20591917		★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	39485070	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	17043643		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19079347		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	30616912		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21109981, 22176836, 24979756, 25173965, 28628231, 29551768, 31128214		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30710528		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17114358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37364928	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	39768951	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21383699, 28515148		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31553754		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17114358		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26513020, 30254148, 31319593		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28919996		★☆☆☆☆ Found in Text Mining only
Melanosis	Melanosis	BEFREE	26706010		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	19079347		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	15894263		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	12393461, 27454822	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27454822		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	29534156	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19079347		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	20064724		★☆☆☆☆ Found in Text Mining only
Nager syndrome	Nager Syndrome	BEFREE	25441681		★☆☆☆☆ 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
Necrosis	Necrosis	Pubtator	32257968	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	31615465		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	31615465		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21610150, 22176836, 28515148, 30254148, 30285829, 31128214		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	22975019, 30285578		★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	28870493		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	26706010		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	26706010		★☆☆☆☆ Found in Text Mining only
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME	Neurofibromatosis	BEFREE	26706010		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	30616912		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	39264518	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	21115542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	21115542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	29784904	Inhibit	★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	24581859		★☆☆☆☆ Found in Text Mining only
Onychogryposis	Onychogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	31832182		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	35003103	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	11242109, 20499091, 27435916, 30659980		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	Pubtator	30659980	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30176143, 32192517	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28951128		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	27464707		★☆☆☆☆ Found in Text Mining only
Port-wine stain with oculocutaneous melanosis	Phakomatosis pigmentovascularis	BEFREE	26706010		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	18201555		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	16532398, 29269280		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	32257968, 35289316	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31615465		★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	BEFREE	26706010		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	21931280	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28490597		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	28515292		★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	22153863, 30476545		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30487159, 39337357	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis Aphthous	Aphthous stomatitis	Pubtator	39343890	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28610600, 31783890		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	26706010		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37525118	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28351298	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	29796997		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	1267651		★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	28098047		★☆☆☆☆ Found in Text Mining only
Young Syndrome	Young syndrome	Pubtator	20542322	Associate	★☆☆☆☆ Found in Text Mining only