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
• Disease Acronyms (UniProt): EDAID1, IMD33, IP, SAIDX
• 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:0000187	Process	Activation of MAPK activity	TAS
GO:0000922	Component	Spindle pole	IDA	24561039
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0002756	Process	MyD88-independent toll-like receptor signaling pathway	TAS
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	21873635
GO:0005634	Component	Nucleus	IDA	14651848
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	11113112, 14651848
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006915	Process	Apoptotic process	TAS	9927690
GO:0006954	Process	Inflammatory response	TAS	18626576
GO:0006955	Process	Immune response	TAS	9751060
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	14651848
GO:0006974	Process	Cellular response to DNA damage stimulus	IMP	25861989
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	TAS	18626576
GO:0007254	Process	JNK cascade	TAS
GO:0008385	Component	IkappaB kinase complex	IBA	21873635
GO:0008385	Component	IkappaB kinase complex	IDA	23776175
GO:0008385	Component	IkappaB kinase complex	TAS	18626576
GO:0009615	Process	Response to virus	TAS	18626576
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0016032	Process	Viral process	IEA
GO:0016239	Process	Positive regulation of macroautophagy	ISS
GO:0016579	Process	Protein deubiquitination	TAS
GO:0019904	Function	Protein domain specific binding	IPI	15341735
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23453807
GO:0032991	Component	Protein-containing complex	IDA	11113112
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	TAS
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042802	Function	Identical protein binding	IPI	18462684, 21988832, 30561431
GO:0042803	Function	Protein homodimerization activity	IDA	23091055
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IEA
GO:0043122	Process	Regulation of I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	17702576
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	TAS
GO:0043276	Process	Anoikis	ISS
GO:0044877	Function	Protein-containing complex binding	IEA
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:0050852	Process	T cell receptor signaling pathway	TAS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	15620648
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS	18626576
GO:0051403	Process	Stress-activated MAPK cascade	TAS
GO:0051650	Process	Establishment of vesicle localization	IMP	24561039
GO:0065003	Process	Protein-containing complex assembly	IDA	11113112
GO:0070423	Process	Nucleotide-binding oligomerization domain containing signaling pathway	TAS
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IBA	21873635
GO:0072686	Component	Mitotic spindle	IDA	24561039
GO:1901215	Process	Negative regulation of neuron death	TAS	18221368
GO:1990450	Function	Linear polyubiquitin binding	IDA	23453807
GO:1990459	Function	Transferrin receptor binding	IPI	23016877

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

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	29339739, 30315739, 10502785, 16329560, 11601226
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Ectodermal dysplasia	Ectodermal Dysplasia, Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema, Ectodermal dysplasia, hypohidrotic, with immune deficiency	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157	16818673, 11047757, 11242109, 18851874, 16950813, 15833888, 16532398, 29077208, 17072331, 21622647, 26117626, 24682681
Incontinentia pigmenti syndrome	Bloch Sulzberger syndrome, INCONTINENTIA PIGMENTI, ATYPICAL, Incontinentia pigmenti	rs1569556615, rs137853321, rs2070949441, rs137853323, rs137853327, rs2071167272, rs782178147, rs1557236796, rs1557236445, rs2071101767	24339369, 10839543, 28870493, 16818673, 19033441, 30905793, 11590134, 17728323, 15229184, 20434027
Keratitis	Keratitis	rs587776571
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	17114358
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Osteopetrosis	Osteopetrosis	rs786205055, rs1562370077, rs119460973, rs1554996130, rs137853149, rs751881962, rs137853150, rs137853151, rs2134438856, rs121908669, rs121908670, rs121908671, rs121908673, rs121908655, rs121908656, rs121908658, rs121908659, rs121434432, rs121434433, rs121434434, rs121434435, rs121434436, rs2137905441, rs121909072, rs863223288, rs398123011, rs387907576, rs397515539, rs267603829, rs587777490, rs139617644, rs794727287, rs573750741, rs886048594, rs777785526, rs1057517365, rs760956030, rs757788894, rs1554250938, rs367567630, rs1208311085, rs1554995350, rs1554995341, rs774308815, rs1458295257, rs1554997884, rs200851583, rs1554998061, rs758977199, rs1554999516, rs371263807, rs1475338876, rs917505107, rs1554995381, rs1554995582, rs1554995706, rs1554997818, rs1554997997, rs748659068, rs377303800, rs1554995009, rs1554999205, rs1300297240, rs1554995330, rs1385741705, rs1554995522, rs1392364437, rs749361897, rs1159666762, rs1269558164, rs1489993984, rs1439348400, rs559224144, rs1567759023, rs1567263375, rs1565156743, rs1590817956, rs1590819834, rs377215024, rs1582396088, rs1353879401, rs1590804397, rs1590819770, rs922106856, rs776436008, rs1855347940, rs761918801, rs1064794323
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar
Ectodermal Dysplasia	ectodermal dysplasia and immune deficiency, ectodermal dysplasia and immunodeficiency 1			GenCC
Immunodeficiency	immunodeficiency 33			GenCC
Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome	anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Inhibit	39337357
Alopecia	Associate	30659980
Anodontia	Associate	30659980
Autoimmune Diseases	Associate	22235006
Bacterial Infections	Associate	14523047, 29269280
Behcet Syndrome	Associate	26812624
Blister	Associate	35768795
Brain Diseases	Associate	22805531, 27411570
Breast Neoplasms	Associate	28402272, 28990063, 32736587
Carcinogenesis	Associate	18313693, 19033441, 28931678, 40028213
Carcinoma Merkel Cell	Associate	24109239
Carcinoma Renal Cell	Associate	37847185
Chemical and Drug Induced Liver Injury	Associate	39264518
Colitis	Associate	28679735
Colonic Neoplasms	Associate	39337357
Common Variable Immunodeficiency	Associate	20652909
Crohn Disease	Associate	15620648, 26215868
Cytomegalovirus Infections	Associate	12045264, 18179816
Death	Associate	18851874, 29534156
Drug Related Side Effects and Adverse Reactions	Associate	12045264, 17890907, 18025182, 26593250
Dysgammaglobulinemia	Associate	19903677, 20542322
Ectodermal Dysplasia	Associate	11673821, 12651765, 16532398, 18313693, 18851874, 20652730, 21309033, 21622647, 26812624, 29155098, 30422821, 39264518
Ectodermal Dysplasia 1 Anhidrotic	Associate	11047757, 14523047, 15358621, 21704885, 22517901, 30422821, 35003103
Ectodermal Dysplasia Anhidrotic With T Cell Immunodeficiency Autosomal Dominant	Associate	20542322, 21622647, 28679735
Ectodermal dysplasia hypohidrotic with immune deficiency	Associate	11047757, 12045264, 16794254, 18412279, 22156202, 27411570
Empyema Subdural	Associate	20652730
Epstein Barr Virus Infections	Associate	20542322
Erythema	Associate	35768795
Familial cylindromatosis	Inhibit	30285829
Familial Exudative Vitreoretinopathies	Associate	22517901
Fever	Associate	39264518
Gastrointestinal Neoplasms	Associate	39337357
Genetic Diseases Inborn	Associate	29257243
Genetic Diseases X Linked	Associate	11047757
Genital Diseases Male	Associate	11673821
Granuloma Pyogenic	Associate	29269280
Heart Failure	Associate	29784904
Hemophilia A	Associate	22672522
Hereditary Autoinflammatory Diseases	Associate	26802121, 35120036, 35289316, 39264518
Hyper IgM Immunodeficiency Syndrome	Associate	20652909
Hyper IgM Immunodeficiency Syndrome Type 1	Associate	15358621
Hyper IgM Immunodeficiency X Linked with Ectodermal Dysplasia Hypohidrotic	Associate	15578091
Hyperpigmentation	Associate	20434027
Hypersensitivity Immediate	Associate	39264518
Hypohidrosis	Associate	18412279, 26802121
Hypopigmentation	Associate	30659980
IgG Deficiency	Associate	19903677
Immune System Diseases	Associate	11047757, 16794254, 20542322, 21704885, 22235006
Immunologic Deficiency Syndromes	Associate	11673821, 12651765, 16532398, 18313693, 20652909, 21309033, 21704885, 26802121, 30659980, 35289316, 36210382, 39264518
Incontinentia Pigmenti	Associate	11047757, 11673821, 11966763, 16532398, 20434027, 20499493, 21286028, 21931280, 22235006, 23079196, 24489960, 26812624, 30422821, 30659980, 32126327, 32257968, 35003103, 35768795, 39264518
Infections	Associate	18851874, 32257968
Inflammation	Associate	18313693, 18851874, 19033441, 23079196, 24109239, 30176143, 33998855, 35289316, 35634951, 37735396
Inflammatory Bowel Diseases	Associate	26812624
Inflammatory Breast Neoplasms	Associate	18248671
Intestinal Diseases	Associate	26802121
Kotzot Richter syndrome	Associate	39596634
Leukemia	Associate	20065354
Leukemia Lymphocytic Chronic B Cell	Associate	39596634
Leukemia Myelomonocytic Juvenile	Associate	39485070
Leukoencephalopathies	Associate	22805531
Light Fixation Seizure Syndrome	Associate	15358621
Lupus Erythematosus Systemic	Associate	37364928
Lymphoma B Cell Marginal Zone	Associate	15894263
Lymphoproliferative Syndrome X Linked 2	Associate	12045264
Macular Degeneration	Associate	39768951
Multiple Myeloma	Associate	12393461, 27454822
Multiple Sclerosis	Associate	29534156
Mycobacterium Infections Nontuberculous	Associate	18851874, 29534156, 37364928
Necrosis	Associate	32257968
NEMO mutation with immunodeficiency	Associate	26802121, 35289316, 39485070
NEMO mutation with immunodeficiency	Stimulate	39264518
Neoplasms	Associate	17012852, 26513020, 32257968, 35580697, 39587630
Neoplasms	Stimulate	39337357
Nervous System Malformations	Associate	24489960
Neurologic Manifestations	Associate	27411570
Neutropenia	Associate	39264518
Obesity	Inhibit	29784904
Opportunistic Infections	Associate	18179816
Osteomyelitis	Associate	35003103
Osteopetrosis	Associate	30659980
Ovarian Neoplasms	Associate	30176143, 32192517
Pneumococcal Infections	Associate	16950813
Pneumonia Pneumocystis	Associate	18179816
Primary Immunodeficiency Diseases	Associate	16426002, 16532398, 16950813, 18025182, 26162572, 29269280, 35289316, 37364928
Progressive hearing loss stapes fixation	Associate	32257968, 35289316
Reperfusion Injury	Associate	37158850
Skin Abnormalities	Associate	21931280
Stomach Neoplasms	Associate	30487159, 39337357
Stomatitis Aphthous	Associate	39343890
Urinary Bladder Neoplasms	Associate	37525118
Uterine Cervical Neoplasms	Associate	28351298
Virus Diseases	Associate	18851874
Vision Low	Associate	18412279
X Linked Combined Immunodeficiency Diseases	Associate	11047757
Young Syndrome	Associate	20542322