CEP55 (centrosomal protein 55)

Gene

• Entrez ID: 55165
• Gene name: Centrosomal protein 55
• Gene symbol: CEP55
• Synonyms (NCBI Gene): C10orf3, CT111, MARCH, URCC6
• Chromosome: 10
• Chromosome location: 10q23.33

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141458677	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs201430235	C>A	Pathogenic	Coding sequence variant, stop gained
rs1002854345	T>A,C	Likely-pathogenic	Splice donor variant
rs1169095680	->A	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020611	hsa-miR-155-5p	Proteomics	18668040
MIRT024828	hsa-miR-215-5p	Microarray	19074876
MIRT026277	hsa-miR-192-5p	Microarray	19074876
MIRT026998	hsa-miR-103a-3p	Sequencing	20371350
MIRT031510	hsa-miR-16-5p	Sequencing	20371350
MIRT050017	hsa-miR-27a-3p	CLASH	23622248
MIRT036269	hsa-miR-1229-3p	CLASH	23622248
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT031510	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT057519	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT057517	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT057518	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT057515	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT031510	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT057519	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT057517	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT057518	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT057515	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT031510	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT057519	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT057517	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT057518	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT057523	hsa-miR-4668-3p	PAR-CLIP	20371350
MIRT057521	hsa-miR-605-5p	PAR-CLIP	20371350
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT057515	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT057526	hsa-miR-6793-3p	PAR-CLIP	20371350
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT057491	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT057490	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT057508	hsa-miR-3666	PAR-CLIP	20371350
MIRT057500	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT057506	hsa-miR-4295	PAR-CLIP	20371350
MIRT057494	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT057501	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT057496	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT057497	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT057492	hsa-miR-148a-3p	PAR-CLIP	20371350
MIRT057495	hsa-miR-152-3p	PAR-CLIP	20371350
MIRT057498	hsa-miR-148b-3p	PAR-CLIP	20371350
MIRT548877	hsa-miR-1244	PAR-CLIP	20371350
MIRT057511	hsa-miR-4698	PAR-CLIP	20371350
MIRT057512	hsa-miR-4797-3p	PAR-CLIP	20371350
MIRT548876	hsa-miR-4264	PAR-CLIP	20371350
MIRT548875	hsa-miR-4645-3p	PAR-CLIP	20371350
MIRT057509	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT057503	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT057504	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT057505	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT057499	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT548874	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT057510	hsa-miR-4474-5p	PAR-CLIP	20371350
MIRT057513	hsa-miR-548aw	PAR-CLIP	20371350
MIRT548873	hsa-miR-514a-3p	PAR-CLIP	20371350
MIRT548872	hsa-miR-514b-3p	PAR-CLIP	20371350
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT031510	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT057519	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT057517	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT057518	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT057515	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT057491	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT057490	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT057508	hsa-miR-3666	PAR-CLIP	21572407
MIRT057500	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT057506	hsa-miR-4295	PAR-CLIP	21572407
MIRT057494	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT057501	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT057496	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT057497	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT057492	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT057495	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT057498	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT548874	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT548877	hsa-miR-1244	PAR-CLIP	21572407
MIRT057511	hsa-miR-4698	PAR-CLIP	21572407
MIRT057502	hsa-miR-936	PAR-CLIP	21572407
MIRT558788	hsa-miR-199a-3p	PAR-CLIP	21572407
MIRT558787	hsa-miR-199b-3p	PAR-CLIP	21572407
MIRT558786	hsa-miR-3129-5p	PAR-CLIP	21572407
MIRT558785	hsa-miR-6511a-3p	PAR-CLIP	21572407
MIRT558784	hsa-miR-6511b-3p	PAR-CLIP	21572407
MIRT057512	hsa-miR-4797-3p	PAR-CLIP	21572407
MIRT548876	hsa-miR-4264	PAR-CLIP	21572407
MIRT548875	hsa-miR-4645-3p	PAR-CLIP	21572407
MIRT057509	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT057503	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT057504	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT057505	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT057499	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT548874	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT057510	hsa-miR-4474-5p	PAR-CLIP	21572407
MIRT057493	hsa-miR-222-5p	PAR-CLIP	21572407
MIRT057513	hsa-miR-548aw	PAR-CLIP	21572407
MIRT548873	hsa-miR-514a-3p	PAR-CLIP	21572407
MIRT548872	hsa-miR-514b-3p	PAR-CLIP	21572407
MIRT057491	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT057490	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT057508	hsa-miR-3666	PAR-CLIP	21572407
MIRT057500	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT057506	hsa-miR-4295	PAR-CLIP	21572407
MIRT057494	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT057501	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT057496	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT057497	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT057492	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT057495	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT057498	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT548877	hsa-miR-1244	PAR-CLIP	21572407
MIRT057511	hsa-miR-4698	PAR-CLIP	21572407
MIRT057512	hsa-miR-4797-3p	PAR-CLIP	21572407
MIRT548876	hsa-miR-4264	PAR-CLIP	21572407
MIRT548875	hsa-miR-4645-3p	PAR-CLIP	21572407
MIRT057509	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT057503	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT057504	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT057505	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT057499	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT548874	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT057510	hsa-miR-4474-5p	PAR-CLIP	21572407
MIRT057513	hsa-miR-548aw	PAR-CLIP	21572407
MIRT548873	hsa-miR-514a-3p	PAR-CLIP	21572407
MIRT548872	hsa-miR-514b-3p	PAR-CLIP	21572407
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT031510	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT057519	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT057517	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT057518	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT057515	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	21572407
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT031510	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT057519	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT057517	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT057518	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT057515	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	23446348
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	24398324
MIRT031510	hsa-miR-16-5p	PAR-CLIP	24398324
MIRT057519	hsa-miR-497-5p	PAR-CLIP	24398324
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	24398324
MIRT057517	hsa-miR-195-5p	PAR-CLIP	24398324
MIRT057518	hsa-miR-424-5p	PAR-CLIP	24398324
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	24398324
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	24398324
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	24398324
MIRT057515	hsa-miR-95-5p	PAR-CLIP	24398324
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	24398324
MIRT443319	hsa-miR-6507-5p	PAR-CLIP	22100165
MIRT443320	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT331232	hsa-miR-3658	PAR-CLIP	22100165
MIRT733736	hsa-miR-582-3p	Immunohistochemistry (IHC)	33510968
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT031510	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT057519	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT057517	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT057518	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT057515	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT031510	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT057519	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT057517	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT057518	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT057515	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT031510	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT057519	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT057517	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT057518	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT057523	hsa-miR-4668-3p	PAR-CLIP	20371350
MIRT057521	hsa-miR-605-5p	PAR-CLIP	20371350
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT057515	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT057526	hsa-miR-6793-3p	PAR-CLIP	20371350
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT057491	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT057490	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT057508	hsa-miR-3666	PAR-CLIP	20371350
MIRT057500	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT057506	hsa-miR-4295	PAR-CLIP	20371350
MIRT057494	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT057501	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT057496	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT057497	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT057492	hsa-miR-148a-3p	PAR-CLIP	20371350
MIRT057495	hsa-miR-152-3p	PAR-CLIP	20371350
MIRT057498	hsa-miR-148b-3p	PAR-CLIP	20371350
MIRT548877	hsa-miR-1244	PAR-CLIP	20371350
MIRT057511	hsa-miR-4698	PAR-CLIP	20371350
MIRT057512	hsa-miR-4797-3p	PAR-CLIP	20371350
MIRT548876	hsa-miR-4264	PAR-CLIP	20371350
MIRT548875	hsa-miR-4645-3p	PAR-CLIP	20371350
MIRT057509	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT057503	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT057504	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT057505	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT057499	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT548874	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT057510	hsa-miR-4474-5p	PAR-CLIP	20371350
MIRT057513	hsa-miR-548aw	PAR-CLIP	20371350
MIRT548873	hsa-miR-514a-3p	PAR-CLIP	20371350
MIRT548872	hsa-miR-514b-3p	PAR-CLIP	20371350
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT031510	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT057519	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT057517	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT057518	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT057515	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT057491	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT057490	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT057508	hsa-miR-3666	PAR-CLIP	21572407
MIRT057500	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT057506	hsa-miR-4295	PAR-CLIP	21572407
MIRT057494	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT057501	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT057496	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT057497	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT057492	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT057495	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT057498	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT548874	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT548877	hsa-miR-1244	PAR-CLIP	21572407
MIRT057511	hsa-miR-4698	PAR-CLIP	21572407
MIRT057502	hsa-miR-936	PAR-CLIP	21572407
MIRT558788	hsa-miR-199a-3p	PAR-CLIP	21572407
MIRT558787	hsa-miR-199b-3p	PAR-CLIP	21572407
MIRT558786	hsa-miR-3129-5p	PAR-CLIP	21572407
MIRT558785	hsa-miR-6511a-3p	PAR-CLIP	21572407
MIRT558784	hsa-miR-6511b-3p	PAR-CLIP	21572407
MIRT057512	hsa-miR-4797-3p	PAR-CLIP	21572407
MIRT548876	hsa-miR-4264	PAR-CLIP	21572407
MIRT548875	hsa-miR-4645-3p	PAR-CLIP	21572407
MIRT057509	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT057503	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT057504	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT057505	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT057499	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT548874	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT057510	hsa-miR-4474-5p	PAR-CLIP	21572407
MIRT057493	hsa-miR-222-5p	PAR-CLIP	21572407
MIRT057513	hsa-miR-548aw	PAR-CLIP	21572407
MIRT548873	hsa-miR-514a-3p	PAR-CLIP	21572407
MIRT548872	hsa-miR-514b-3p	PAR-CLIP	21572407
MIRT057491	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT057490	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT057508	hsa-miR-3666	PAR-CLIP	21572407
MIRT057500	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT057506	hsa-miR-4295	PAR-CLIP	21572407
MIRT057494	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT057501	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT057496	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT057497	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT057492	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT057495	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT057498	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT548877	hsa-miR-1244	PAR-CLIP	21572407
MIRT057511	hsa-miR-4698	PAR-CLIP	21572407
MIRT057512	hsa-miR-4797-3p	PAR-CLIP	21572407
MIRT548876	hsa-miR-4264	PAR-CLIP	21572407
MIRT548875	hsa-miR-4645-3p	PAR-CLIP	21572407
MIRT057509	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT057503	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT057504	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT057505	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT057499	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT548874	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT057510	hsa-miR-4474-5p	PAR-CLIP	21572407
MIRT057513	hsa-miR-548aw	PAR-CLIP	21572407
MIRT548873	hsa-miR-514a-3p	PAR-CLIP	21572407
MIRT548872	hsa-miR-514b-3p	PAR-CLIP	21572407
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT031510	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT057519	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT057517	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT057518	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT057515	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	21572407
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT031510	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT057519	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT057517	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT057518	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT057515	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	23446348
MIRT057514	hsa-miR-15a-5p	PAR-CLIP	24398324
MIRT031510	hsa-miR-16-5p	PAR-CLIP	24398324
MIRT057519	hsa-miR-497-5p	PAR-CLIP	24398324
MIRT057527	hsa-miR-6838-5p	PAR-CLIP	24398324
MIRT057517	hsa-miR-195-5p	PAR-CLIP	24398324
MIRT057518	hsa-miR-424-5p	PAR-CLIP	24398324
MIRT057516	hsa-miR-15b-5p	PAR-CLIP	24398324
MIRT057522	hsa-miR-3942-5p	PAR-CLIP	24398324
MIRT057524	hsa-miR-4703-5p	PAR-CLIP	24398324
MIRT057515	hsa-miR-95-5p	PAR-CLIP	24398324
MIRT057525	hsa-miR-6792-5p	PAR-CLIP	24398324
MIRT443319	hsa-miR-6507-5p	PAR-CLIP	22100165
MIRT443320	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT331232	hsa-miR-3658	PAR-CLIP	22100165
MIRT886082	hsa-miR-1178	CLIP-seq
MIRT886083	hsa-miR-122	CLIP-seq
MIRT886084	hsa-miR-1287	CLIP-seq
MIRT886085	hsa-miR-130a	CLIP-seq
MIRT886086	hsa-miR-130b	CLIP-seq
MIRT886087	hsa-miR-1321	CLIP-seq
MIRT886088	hsa-miR-148a	CLIP-seq
MIRT886089	hsa-miR-148b	CLIP-seq
MIRT886090	hsa-miR-152	CLIP-seq
MIRT886091	hsa-miR-15a	CLIP-seq
MIRT886092	hsa-miR-15b	CLIP-seq
MIRT886093	hsa-miR-16	CLIP-seq
MIRT886094	hsa-miR-195	CLIP-seq
MIRT886095	hsa-miR-197	CLIP-seq
MIRT886096	hsa-miR-19a	CLIP-seq
MIRT886097	hsa-miR-19b	CLIP-seq
MIRT886098	hsa-miR-202	CLIP-seq
MIRT886099	hsa-miR-2682	CLIP-seq
MIRT886100	hsa-miR-301a	CLIP-seq
MIRT886101	hsa-miR-301b	CLIP-seq
MIRT886102	hsa-miR-3135b	CLIP-seq
MIRT886103	hsa-miR-34c-3p	CLIP-seq
MIRT886104	hsa-miR-365	CLIP-seq
MIRT886105	hsa-miR-3927	CLIP-seq
MIRT886106	hsa-miR-3935	CLIP-seq
MIRT886107	hsa-miR-410	CLIP-seq
MIRT886108	hsa-miR-411	CLIP-seq
MIRT886109	hsa-miR-424	CLIP-seq
MIRT886110	hsa-miR-4270	CLIP-seq
MIRT886111	hsa-miR-4328	CLIP-seq
MIRT886112	hsa-miR-4441	CLIP-seq
MIRT886113	hsa-miR-4480	CLIP-seq
MIRT886114	hsa-miR-449c	CLIP-seq
MIRT886115	hsa-miR-454	CLIP-seq
MIRT886116	hsa-miR-4633-5p	CLIP-seq
MIRT886117	hsa-miR-4701-5p	CLIP-seq
MIRT886118	hsa-miR-4739	CLIP-seq
MIRT886119	hsa-miR-4756-5p	CLIP-seq
MIRT886120	hsa-miR-4760-3p	CLIP-seq
MIRT886121	hsa-miR-4778-5p	CLIP-seq
MIRT886122	hsa-miR-491-3p	CLIP-seq
MIRT886123	hsa-miR-497	CLIP-seq
MIRT886124	hsa-miR-532-5p	CLIP-seq
MIRT886125	hsa-miR-539	CLIP-seq
MIRT886126	hsa-miR-548m	CLIP-seq
MIRT886127	hsa-miR-588	CLIP-seq
MIRT886128	hsa-miR-590-3p	CLIP-seq
MIRT886129	hsa-miR-644	CLIP-seq
MIRT886130	hsa-miR-663b	CLIP-seq
MIRT886131	hsa-miR-767-3p	CLIP-seq
MIRT886132	hsa-miR-940	CLIP-seq
MIRT886133	hsa-miR-1207-3p	CLIP-seq
MIRT886091	hsa-miR-15a	CLIP-seq
MIRT886092	hsa-miR-15b	CLIP-seq
MIRT886093	hsa-miR-16	CLIP-seq
MIRT886094	hsa-miR-195	CLIP-seq
MIRT886095	hsa-miR-197	CLIP-seq
MIRT886134	hsa-miR-2110	CLIP-seq
MIRT886135	hsa-miR-3150a-3p	CLIP-seq
MIRT886136	hsa-miR-3913-3p	CLIP-seq
MIRT886109	hsa-miR-424	CLIP-seq
MIRT886137	hsa-miR-4259	CLIP-seq
MIRT886138	hsa-miR-4271	CLIP-seq
MIRT886139	hsa-miR-4725-3p	CLIP-seq
MIRT886123	hsa-miR-497	CLIP-seq
MIRT886140	hsa-miR-571	CLIP-seq
MIRT886133	hsa-miR-1207-3p	CLIP-seq
MIRT886083	hsa-miR-122	CLIP-seq
MIRT886084	hsa-miR-1287	CLIP-seq
MIRT2199175	hsa-miR-144	CLIP-seq
MIRT2199176	hsa-miR-147	CLIP-seq
MIRT886098	hsa-miR-202	CLIP-seq
MIRT886099	hsa-miR-2682	CLIP-seq
MIRT886102	hsa-miR-3135b	CLIP-seq
MIRT2199177	hsa-miR-3156-5p	CLIP-seq
MIRT886103	hsa-miR-34c-3p	CLIP-seq
MIRT2199178	hsa-miR-3911	CLIP-seq
MIRT886105	hsa-miR-3927	CLIP-seq
MIRT886106	hsa-miR-3935	CLIP-seq
MIRT2199179	hsa-miR-4289	CLIP-seq
MIRT2199180	hsa-miR-4317	CLIP-seq
MIRT886111	hsa-miR-4328	CLIP-seq
MIRT886113	hsa-miR-4480	CLIP-seq
MIRT886114	hsa-miR-449c	CLIP-seq
MIRT886117	hsa-miR-4701-5p	CLIP-seq
MIRT886121	hsa-miR-4778-5p	CLIP-seq
MIRT2199181	hsa-miR-4803	CLIP-seq
MIRT886122	hsa-miR-491-3p	CLIP-seq
MIRT886125	hsa-miR-539	CLIP-seq
MIRT886126	hsa-miR-548m	CLIP-seq
MIRT2199182	hsa-miR-570	CLIP-seq
MIRT886127	hsa-miR-588	CLIP-seq
MIRT2199183	hsa-miR-616	CLIP-seq
MIRT886129	hsa-miR-644	CLIP-seq
MIRT886130	hsa-miR-663b	CLIP-seq
MIRT886132	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TSG101	Unknown	18948538

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IBA
GO:0000281	Process	Mitotic cytokinesis	IEA
GO:0000281	Process	Mitotic cytokinesis	IGI	19638580
GO:0005515	Function	Protein binding	IPI	16189514, 17853893, 18940611, 19549727, 20176808, 21516116, 25416956, 25910212, 26638075, 26871637, 27107012, 31515488, 32296183, 32707033, 32814053, 33961781, 35156780, 35271311, 36012204, 37100772
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	20186884, 21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006997	Process	Nucleus organization	IMP	20616062
GO:0007080	Process	Mitotic metaphase chromosome alignment	IMP	20616062
GO:0016020	Component	Membrane	HDA	19946888
GO:0030496	Component	Midbody	IBA
GO:0030496	Component	Midbody	IDA	20186884, 21310966, 28264986
GO:0030496	Component	Midbody	IEA
GO:0032154	Component	Cleavage furrow	IEA
GO:0042802	Function	Identical protein binding	IPI	17853893, 25416956, 31515488
GO:0045171	Component	Intercellular bridge	IEA
GO:0045184	Process	Establishment of protein localization	IBA
GO:0045184	Process	Establishment of protein localization	IMP	23045692
GO:0051301	Process	Cell division	IEA
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0061952	Process	Midbody abscission	IMP	20616062
GO:0090543	Component	Flemming body	IDA	18641129
GO:0090543	Component	Flemming body	IEA
GO:1904888	Process	Cranial skeletal system development	IMP	28264986

Other IDs

• MIM: 610000
• HGNC: 1161
• e!Ensembl: ENSG00000138180

Protein

• UniProt ID: Q53EZ4
• Protein name: Centrosomal protein of 55 kDa (Cep55) (Up-regulated in colon cancer 6)
• Protein function: Plays a role in mitotic exit and cytokinesis (PubMed:16198290, PubMed:17853893). Recruits PDCD6IP and TSG101 to midbody during cytokinesis. Required for successful completion of cytokinesis (PubMed:17853893). Not required for microtubule nucleat
• PDB: 3E1R, 3WUT, 3WUU, 3WUV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12180	EABR	171 → 204	TSG101 and ALIX binding domain of CEP55	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in embryonic brain (PubMed:28264986). Expressed in fetal brain ganglionic eminence, kidney tubules and multinucleate neurons in the temporal cortex (PubMed:28264986). Expressed in adult brain, cerebellum, kidney tubules, inte
• Sequence:

  MSSRSTKDLIKSKWGSKPSNSKSETTLEKLKGEIAHLKTSVDEITSGKGKLTDKERHRLL
  EKIRVLEAEKEKNAYQLTEKDKEIQRLRDQLKARYSTTTLLEQLEETTREGERREQVLKA
  LSEEKDVLKQQLSAATSRIAELESKTNTLRLSQTVAPNCFNSSINNIHEMEIQLKDALEK
  NQQWLVYDQQREVYVKGLLAKIFELEKKTETAAHSLPQQTKKPESEGYLQEEKQKCYNDL
  LASAKKDLEVERQTITQLSFELSEFRRKYEETQKEVHNLNQLLYSQRRADVQHLEDDRHK
  TEKIQKLREENDIARGKLEEEKKRSEELLSQVQFLYTSLLKQQEEQTRVALLEQQMQACT
  LDFENEKLDRQHVQHQLHVILKELRKARNQITQLESLKQLHEFAITEPLVTFQGETENRE
  KVAASPKSPTAALNESLVECPKCNIQYPATEHRDLLVHVEYCSK

• Sequence length: 464

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
Abnormality of prenatal development or birth	Likely pathogenic	rs2134490704	RCV001814445	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CEP55-related disorder	Pathogenic; Likely pathogenic	rs141458677, rs1297300713	RCV003419872 RCV003983842	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	Likely pathogenic; Pathogenic	rs146596670, rs2493944670, rs201430235, rs141458677, rs1169095680, rs1297300713, rs572584581	RCV001375949 RCV003990765 RCV000504576 RCV000504578 RCV000681554 RCV001175199 RCV003222283	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30527357		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	32923148	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	27796151		★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	35219767	Inhibit	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	25178936		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25178936, 30277841		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19609239, 26902787, 29561704, 30108112		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26902787, 28061449, 30108112, 31895772, 34055036, 36930083, 37887301, 39242688	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28901457, 35403252	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28901457, 31011256, 32104698, 32337246, 36120772, 37980163, 38097948, 40255404	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25178936, 30277841		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29750778, 30154666		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26615423	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35403252	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30896867	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31422942, 34606125	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36352434, 37173675	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	25178936	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26615423		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29805659		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29805659		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	39195269	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30601084		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	28295209		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	16170351		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16170351		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30987631, 34959120, 38134110	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33190424	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30607788, 30896867		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	40504854	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic liver disease	Cystic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30899282, 30944269		★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35832124	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	38172247	Associate	★☆☆☆☆ Found in Text Mining only
Fetal Diseases	Fetal Diseases	BEFREE	30622327		★☆☆☆☆ Found in Text Mining only
Fibromatosis	Fibromatosis	BEFREE	20060556		★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29434995, 31119182		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31119182, 37173675, 40504854	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29434995, 31119182		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29434995, 29552118, 31005653		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32351983	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	38301615	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	39195269	Associate	★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	BEFREE	30622327		★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	Pubtator	30622327	Associate	★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydranencephaly with Renal Aplasia-Dysplasia	Hydranencephaly With Renal Aplasia-Dysplasia	BEFREE	28264986, 31365163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydranencephaly with Renal Aplasia-Dysplasia	Hydranencephaly With Renal Aplasia-Dysplasia	CLINVAR_DG	28264986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydranencephaly with Renal Aplasia-Dysplasia	Hydranencephaly With Renal Aplasia-Dysplasia	ORPHANET_DG	28264986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydranencephaly with Renal Aplasia-Dysplasia	Hydranencephaly With Renal Aplasia-Dysplasia	GENOMICS_ENGLAND_DG	28264986, 30622327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	38097948	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	30622327	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39311489	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24390615, 30089483, 30096813, 30535497		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	32337246	Associate	★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29750778, 35178291, 35608130	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26615423, 33015797	Associate	★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26902787, 29561704, 30108112		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29750778, 30154666		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28724890		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21917134, 30210684		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24390615		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25178936, 30277841		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16406728, 19609239, 20347825, 25178936, 25915844, 28123547, 29516967, 29552118, 29683733, 30008265, 30108112, 30154666, 30896867		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29805659		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16170351		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29561704		★☆☆☆☆ Found in Text Mining only
Meckel syndrome	Meckel Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG	28295209		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	33032291	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	37589542	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	38097948	Associate	★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	Hydranencephaly with renal aplasia-dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Necrosis	Necrosis	Pubtator	37589542	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16170351, 19609239, 22109759, 24390615, 25915844, 26615423, 28123547, 28344889, 28776573, 29579156, 29805659, 30050313, 30607788, 30896867		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30154666		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35219767	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29579156		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36109749	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	26615423	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26615423	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34734085, 39511642	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28724890		★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28724890, 33386701	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21917134, 30210684		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21917134	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30607788		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	30622327		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	30622327		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal hepatic pancreatic dysplasia Dandy Walker cyst	Meckel syndrome	BEFREE	28295209		★☆☆☆☆ Found in Text Mining only
Renal hepatic pancreatic dysplasia Dandy Walker cyst	Meckel syndrome	GENOMICS_ENGLAND_DG	28295209		★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	30622327	Associate	★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28123547, 30050313, 30064228		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19287496	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	22109759		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19287496, 20400365		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24390615		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34686626	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	29516967		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	25178936		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	27796151, 33015797, 33455115	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	25178936		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30108112	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34055036	Stimulate	★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25178936	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23052694, 37344577	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin K Deficiency	Vitamin k deficiency	Pubtator	33015797	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	32149111	Associate	★☆☆☆☆ Found in Text Mining only