Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5277
Gene name	Phosphatidylinositol glycan anchor biosynthesis class A
Gene symbol	PIGA
Synonyms (NCBI Gene)	GPI3MCAHS2NEDEPHPIG-APNH1
Chromosome	X
Chromosome location	Xp22.2
Summary	This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anc

Show/Hide all (26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199422232	G>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs199422233	G>A	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs201119959	T>A,C	Uncertain-significance, pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, missense variant
rs387906726	G>A,T	Likely-benign, pathogenic	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs587776723	A>-	Pathogenic	Splice donor variant
rs587776724	->T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs587776725	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs587776726	->AC	Pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs587776727	G>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs587776728	GA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs587777396	G>A	Likely-pathogenic, pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs587777397	->A	Pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs587777398	C>A,T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs587777399	AAG>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs587777400	G>A	Pathogenic	Missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs786200912	->TTTCAATGATAGAATCTGGAGTCATCCATCTCAA	Pathogenic	Stop gained, inframe indel, non coding transcript variant, coding sequence variant
rs797044924	T>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, intron variant, missense variant, upstream transcript variant, coding sequence variant
rs879255543	->C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, intron variant, upstream transcript variant, frameshift variant, coding sequence variant
rs1057523554	T>C	Likely-pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs1060499625	G>C	Likely-pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant
rs1060499666	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1555945480	G>A	Likely-pathogenic	Intron variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs1555945553	C>T	Likely-pathogenic	Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs1602206514	->TCCAGGCA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602208229	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602212285	G>A	Likely-pathogenic	Coding sequence variant, upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, missense variant

473

Show/Hide all (473)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028798	hsa-miR-26b-5p	Microarray	19088304
MIRT043655	hsa-miR-326	CLASH	23622248
MIRT566430	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT566429	hsa-miR-548p	PAR-CLIP	20371350
MIRT566428	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT566427	hsa-miR-4746-5p	PAR-CLIP	20371350
MIRT260770	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566422	hsa-miR-2355-5p	PAR-CLIP	20371350
MIRT535271	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT535270	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT535269	hsa-miR-4295	PAR-CLIP	20371350
MIRT535268	hsa-miR-3666	PAR-CLIP	20371350
MIRT535267	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT535266	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT535265	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT535264	hsa-miR-302e	PAR-CLIP	20371350
MIRT535263	hsa-miR-302d-3p	PAR-CLIP	20371350
MIRT535262	hsa-miR-302c-3p	PAR-CLIP	20371350
MIRT535261	hsa-miR-302b-3p	PAR-CLIP	20371350
MIRT535260	hsa-miR-372-3p	PAR-CLIP	20371350
MIRT535259	hsa-miR-373-3p	PAR-CLIP	20371350
MIRT535258	hsa-miR-520a-3p	PAR-CLIP	20371350
MIRT535257	hsa-miR-520e	PAR-CLIP	20371350
MIRT535256	hsa-miR-302a-3p	PAR-CLIP	20371350
MIRT535255	hsa-miR-520d-3p	PAR-CLIP	20371350
MIRT535254	hsa-miR-520c-3p	PAR-CLIP	20371350
MIRT535253	hsa-miR-520b	PAR-CLIP	20371350
MIRT535252	hsa-miR-5692a	PAR-CLIP	20371350
MIRT535251	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT535250	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT535249	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT535248	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT535247	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT535246	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT535245	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT535244	hsa-miR-5009-3p	PAR-CLIP	20371350
MIRT535243	hsa-miR-6845-3p	PAR-CLIP	20371350
MIRT535242	hsa-miR-4696	PAR-CLIP	20371350
MIRT566430	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT566429	hsa-miR-548p	PAR-CLIP	20371350
MIRT566428	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT566427	hsa-miR-4746-5p	PAR-CLIP	20371350
MIRT260770	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566426	hsa-miR-3689a-5p	PAR-CLIP	20371350
MIRT566425	hsa-miR-3689b-5p	PAR-CLIP	20371350
MIRT566424	hsa-miR-3689e	PAR-CLIP	20371350
MIRT566423	hsa-miR-3689f	PAR-CLIP	20371350
MIRT566422	hsa-miR-2355-5p	PAR-CLIP	20371350
MIRT535271	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT535270	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT535269	hsa-miR-4295	PAR-CLIP	22012620
MIRT535268	hsa-miR-3666	PAR-CLIP	22012620
MIRT535267	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT535266	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT535265	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT535264	hsa-miR-302e	PAR-CLIP	22012620
MIRT535263	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT535262	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT535261	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT535260	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT535259	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT535258	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT535257	hsa-miR-520e	PAR-CLIP	22012620
MIRT535256	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT535255	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT535254	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT535253	hsa-miR-520b	PAR-CLIP	22012620
MIRT535252	hsa-miR-5692a	PAR-CLIP	22012620
MIRT535251	hsa-miR-3606-3p	PAR-CLIP	22012620
MIRT535250	hsa-miR-513a-3p	PAR-CLIP	22012620
MIRT535249	hsa-miR-513c-3p	PAR-CLIP	22012620
MIRT535248	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT535247	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT535246	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT535245	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT535244	hsa-miR-5009-3p	PAR-CLIP	22012620
MIRT535243	hsa-miR-6845-3p	PAR-CLIP	22012620
MIRT535242	hsa-miR-4696	PAR-CLIP	22012620
MIRT566430	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT566429	hsa-miR-548p	PAR-CLIP	20371350
MIRT566428	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT566427	hsa-miR-4746-5p	PAR-CLIP	20371350
MIRT260770	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566422	hsa-miR-2355-5p	PAR-CLIP	20371350
MIRT535271	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT535270	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT535269	hsa-miR-4295	PAR-CLIP	20371350
MIRT535268	hsa-miR-3666	PAR-CLIP	20371350
MIRT535267	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT535266	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT535265	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT535264	hsa-miR-302e	PAR-CLIP	20371350
MIRT535263	hsa-miR-302d-3p	PAR-CLIP	20371350
MIRT535262	hsa-miR-302c-3p	PAR-CLIP	20371350
MIRT535261	hsa-miR-302b-3p	PAR-CLIP	20371350
MIRT535260	hsa-miR-372-3p	PAR-CLIP	20371350
MIRT535259	hsa-miR-373-3p	PAR-CLIP	20371350
MIRT535258	hsa-miR-520a-3p	PAR-CLIP	20371350
MIRT535257	hsa-miR-520e	PAR-CLIP	20371350
MIRT535256	hsa-miR-302a-3p	PAR-CLIP	20371350
MIRT535255	hsa-miR-520d-3p	PAR-CLIP	20371350
MIRT535254	hsa-miR-520c-3p	PAR-CLIP	20371350
MIRT535253	hsa-miR-520b	PAR-CLIP	20371350
MIRT535252	hsa-miR-5692a	PAR-CLIP	20371350
MIRT535251	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT535250	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT535249	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT535248	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT535247	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT535246	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT535245	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT535244	hsa-miR-5009-3p	PAR-CLIP	20371350
MIRT535243	hsa-miR-6845-3p	PAR-CLIP	20371350
MIRT535242	hsa-miR-4696	PAR-CLIP	20371350
MIRT566430	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT566429	hsa-miR-548p	PAR-CLIP	20371350
MIRT566428	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT566427	hsa-miR-4746-5p	PAR-CLIP	20371350
MIRT260770	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566426	hsa-miR-3689a-5p	PAR-CLIP	20371350
MIRT566425	hsa-miR-3689b-5p	PAR-CLIP	20371350
MIRT566424	hsa-miR-3689e	PAR-CLIP	20371350
MIRT566423	hsa-miR-3689f	PAR-CLIP	20371350
MIRT566422	hsa-miR-2355-5p	PAR-CLIP	20371350
MIRT535271	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT535270	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT535269	hsa-miR-4295	PAR-CLIP	22012620
MIRT535268	hsa-miR-3666	PAR-CLIP	22012620
MIRT535267	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT535266	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT535265	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT535264	hsa-miR-302e	PAR-CLIP	22012620
MIRT535263	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT535262	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT535261	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT535260	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT535259	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT535258	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT535257	hsa-miR-520e	PAR-CLIP	22012620
MIRT535256	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT535255	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT535254	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT535253	hsa-miR-520b	PAR-CLIP	22012620
MIRT535252	hsa-miR-5692a	PAR-CLIP	22012620
MIRT535251	hsa-miR-3606-3p	PAR-CLIP	22012620
MIRT535250	hsa-miR-513a-3p	PAR-CLIP	22012620
MIRT535249	hsa-miR-513c-3p	PAR-CLIP	22012620
MIRT535248	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT535247	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT535246	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT535245	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT535244	hsa-miR-5009-3p	PAR-CLIP	22012620
MIRT535243	hsa-miR-6845-3p	PAR-CLIP	22012620
MIRT535242	hsa-miR-4696	PAR-CLIP	22012620
MIRT1233078	hsa-let-7a	CLIP-seq
MIRT1233079	hsa-let-7b	CLIP-seq
MIRT1233080	hsa-let-7c	CLIP-seq
MIRT1233081	hsa-let-7d	CLIP-seq
MIRT1233082	hsa-let-7e	CLIP-seq
MIRT1233083	hsa-let-7f	CLIP-seq
MIRT1233084	hsa-let-7g	CLIP-seq
MIRT1233085	hsa-let-7i	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT1233093	hsa-miR-3613-3p	CLIP-seq
MIRT1233094	hsa-miR-3663-5p	CLIP-seq
MIRT1233095	hsa-miR-376a	CLIP-seq
MIRT1233096	hsa-miR-376b	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT1233098	hsa-miR-3976	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT1233100	hsa-miR-4307	CLIP-seq
MIRT1233101	hsa-miR-4328	CLIP-seq
MIRT1233102	hsa-miR-4427	CLIP-seq
MIRT1233103	hsa-miR-4432	CLIP-seq
MIRT1233104	hsa-miR-4458	CLIP-seq
MIRT1233105	hsa-miR-4499	CLIP-seq
MIRT1233106	hsa-miR-4500	CLIP-seq
MIRT1233107	hsa-miR-4501	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT1233109	hsa-miR-4520a-3p	CLIP-seq
MIRT1233110	hsa-miR-4520b-3p	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT1233112	hsa-miR-4529-3p	CLIP-seq
MIRT1233113	hsa-miR-4668-3p	CLIP-seq
MIRT1233114	hsa-miR-4719	CLIP-seq
MIRT1233115	hsa-miR-4724-3p	CLIP-seq
MIRT1233116	hsa-miR-495	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233118	hsa-miR-499-5p	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT1233120	hsa-miR-513b	CLIP-seq
MIRT1233121	hsa-miR-548c-3p	CLIP-seq
MIRT1233122	hsa-miR-586	CLIP-seq
MIRT1233123	hsa-miR-605	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT1233126	hsa-miR-98	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT1233127	hsa-miR-1228	CLIP-seq
MIRT1233128	hsa-miR-130a	CLIP-seq
MIRT1233129	hsa-miR-130b	CLIP-seq
MIRT1233130	hsa-miR-148a	CLIP-seq
MIRT1233131	hsa-miR-148b	CLIP-seq
MIRT1233132	hsa-miR-152	CLIP-seq
MIRT1233133	hsa-miR-153	CLIP-seq
MIRT1233134	hsa-miR-1825	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT1233135	hsa-miR-199a-3p	CLIP-seq
MIRT1233136	hsa-miR-199b-3p	CLIP-seq
MIRT1233137	hsa-miR-19a	CLIP-seq
MIRT1233138	hsa-miR-19b	CLIP-seq
MIRT1233139	hsa-miR-2117	CLIP-seq
MIRT1233140	hsa-miR-2964a-3p	CLIP-seq
MIRT1233141	hsa-miR-301a	CLIP-seq
MIRT1233142	hsa-miR-301b	CLIP-seq
MIRT1233143	hsa-miR-302a	CLIP-seq
MIRT1233144	hsa-miR-302b	CLIP-seq
MIRT1233145	hsa-miR-302c	CLIP-seq
MIRT1233146	hsa-miR-302d	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT1233147	hsa-miR-3129-5p	CLIP-seq
MIRT1233148	hsa-miR-3164	CLIP-seq
MIRT1233149	hsa-miR-3167	CLIP-seq
MIRT1233150	hsa-miR-3179	CLIP-seq
MIRT1233151	hsa-miR-323-3p	CLIP-seq
MIRT1233152	hsa-miR-3660	CLIP-seq
MIRT1233094	hsa-miR-3663-5p	CLIP-seq
MIRT1233153	hsa-miR-3664-3p	CLIP-seq
MIRT1233154	hsa-miR-372	CLIP-seq
MIRT1233155	hsa-miR-373	CLIP-seq
MIRT1233156	hsa-miR-3908	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT1233157	hsa-miR-4273	CLIP-seq
MIRT1233158	hsa-miR-448	CLIP-seq
MIRT1233159	hsa-miR-4481	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT1233160	hsa-miR-4526	CLIP-seq
MIRT1233161	hsa-miR-454	CLIP-seq
MIRT1233162	hsa-miR-4645-3p	CLIP-seq
MIRT1233163	hsa-miR-4698	CLIP-seq
MIRT1233164	hsa-miR-4745-5p	CLIP-seq
MIRT1233165	hsa-miR-4758-5p	CLIP-seq
MIRT1233166	hsa-miR-4766-5p	CLIP-seq
MIRT1233167	hsa-miR-510	CLIP-seq
MIRT1233168	hsa-miR-519a	CLIP-seq
MIRT1233169	hsa-miR-587	CLIP-seq
MIRT1233170	hsa-miR-616	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT1233171	hsa-miR-873	CLIP-seq
MIRT1233172	hsa-miR-876-5p	CLIP-seq
MIRT1233173	hsa-miR-936	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT2068605	hsa-miR-1208	CLIP-seq
MIRT1233127	hsa-miR-1228	CLIP-seq
MIRT1233128	hsa-miR-130a	CLIP-seq
MIRT1233129	hsa-miR-130b	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT1233141	hsa-miR-301a	CLIP-seq
MIRT1233142	hsa-miR-301b	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT1233148	hsa-miR-3164	CLIP-seq
MIRT1233150	hsa-miR-3179	CLIP-seq
MIRT1233151	hsa-miR-323-3p	CLIP-seq
MIRT2068606	hsa-miR-3647-3p	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT2068607	hsa-miR-452	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT1233161	hsa-miR-454	CLIP-seq
MIRT2068608	hsa-miR-4676-3p	CLIP-seq
MIRT1233163	hsa-miR-4698	CLIP-seq
MIRT1233114	hsa-miR-4719	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT1233120	hsa-miR-513b	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT2068605	hsa-miR-1208	CLIP-seq
MIRT1233127	hsa-miR-1228	CLIP-seq
MIRT2295711	hsa-miR-1229	CLIP-seq
MIRT2295712	hsa-miR-128	CLIP-seq
MIRT1233128	hsa-miR-130a	CLIP-seq
MIRT1233129	hsa-miR-130b	CLIP-seq
MIRT2295713	hsa-miR-141	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT2295714	hsa-miR-181a	CLIP-seq
MIRT2295715	hsa-miR-181b	CLIP-seq
MIRT2295716	hsa-miR-181c	CLIP-seq
MIRT2295717	hsa-miR-181d	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT2295718	hsa-miR-1908	CLIP-seq
MIRT2295719	hsa-miR-1909	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT2295720	hsa-miR-200a	CLIP-seq
MIRT2295721	hsa-miR-2278	CLIP-seq
MIRT1233141	hsa-miR-301a	CLIP-seq
MIRT1233142	hsa-miR-301b	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT2295722	hsa-miR-3132	CLIP-seq
MIRT1233151	hsa-miR-323-3p	CLIP-seq
MIRT1233156	hsa-miR-3908	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT2295723	hsa-miR-4262	CLIP-seq
MIRT2295724	hsa-miR-4451	CLIP-seq
MIRT1233107	hsa-miR-4501	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT2068607	hsa-miR-452	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT1233161	hsa-miR-454	CLIP-seq
MIRT1233113	hsa-miR-4668-3p	CLIP-seq
MIRT2295725	hsa-miR-4672	CLIP-seq
MIRT2068608	hsa-miR-4676-3p	CLIP-seq
MIRT2295726	hsa-miR-4690-5p	CLIP-seq
MIRT1233163	hsa-miR-4698	CLIP-seq
MIRT2295727	hsa-miR-4717-5p	CLIP-seq
MIRT2295728	hsa-miR-4732-5p	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT2295729	hsa-miR-543	CLIP-seq
MIRT2295730	hsa-miR-562	CLIP-seq
MIRT1233122	hsa-miR-586	CLIP-seq
MIRT1233170	hsa-miR-616	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT2295731	hsa-miR-663	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT1233133	hsa-miR-153	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT1233140	hsa-miR-2964a-3p	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT1233153	hsa-miR-3664-3p	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT1233158	hsa-miR-448	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT1233167	hsa-miR-510	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT1233171	hsa-miR-873	CLIP-seq
MIRT2456468	hsa-miR-3065-5p	CLIP-seq
MIRT2456469	hsa-miR-515-5p	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT2068605	hsa-miR-1208	CLIP-seq
MIRT1233127	hsa-miR-1228	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT2295714	hsa-miR-181a	CLIP-seq
MIRT2295715	hsa-miR-181b	CLIP-seq
MIRT2295716	hsa-miR-181c	CLIP-seq
MIRT2295717	hsa-miR-181d	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT2593625	hsa-miR-1910	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT2593626	hsa-miR-3130-3p	CLIP-seq
MIRT1233151	hsa-miR-323-3p	CLIP-seq
MIRT2068606	hsa-miR-3647-3p	CLIP-seq
MIRT2593627	hsa-miR-3682-5p	CLIP-seq
MIRT2593628	hsa-miR-3689b	CLIP-seq
MIRT2593629	hsa-miR-3910	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT2593630	hsa-miR-421	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT2295723	hsa-miR-4262	CLIP-seq
MIRT1233102	hsa-miR-4427	CLIP-seq
MIRT1233103	hsa-miR-4432	CLIP-seq
MIRT2593631	hsa-miR-4491	CLIP-seq
MIRT1233105	hsa-miR-4499	CLIP-seq
MIRT1233107	hsa-miR-4501	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT2068607	hsa-miR-452	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT2593632	hsa-miR-455-3p	CLIP-seq
MIRT1233162	hsa-miR-4645-3p	CLIP-seq
MIRT2593633	hsa-miR-4657	CLIP-seq
MIRT1233113	hsa-miR-4668-3p	CLIP-seq
MIRT2068608	hsa-miR-4676-3p	CLIP-seq
MIRT2593634	hsa-miR-4699-3p	CLIP-seq
MIRT2593635	hsa-miR-4709-5p	CLIP-seq
MIRT2593636	hsa-miR-4729	CLIP-seq
MIRT2593637	hsa-miR-4768-5p	CLIP-seq
MIRT2593638	hsa-miR-4793-3p	CLIP-seq
MIRT2593639	hsa-miR-494	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233118	hsa-miR-499-5p	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT2593640	hsa-miR-548ag	CLIP-seq
MIRT2593641	hsa-miR-548ai	CLIP-seq
MIRT1233121	hsa-miR-548c-3p	CLIP-seq
MIRT2593642	hsa-miR-570	CLIP-seq
MIRT1233122	hsa-miR-586	CLIP-seq
MIRT1233123	hsa-miR-605	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT2593643	hsa-miR-767-3p	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT2593644	hsa-miR-935	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT2068605	hsa-miR-1208	CLIP-seq
MIRT1233127	hsa-miR-1228	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT2295714	hsa-miR-181a	CLIP-seq
MIRT2295715	hsa-miR-181b	CLIP-seq
MIRT2295716	hsa-miR-181c	CLIP-seq
MIRT2295717	hsa-miR-181d	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT2593626	hsa-miR-3130-3p	CLIP-seq
MIRT1233151	hsa-miR-323-3p	CLIP-seq
MIRT2068606	hsa-miR-3647-3p	CLIP-seq
MIRT2593627	hsa-miR-3682-5p	CLIP-seq
MIRT2593628	hsa-miR-3689b	CLIP-seq
MIRT2593629	hsa-miR-3910	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT2593630	hsa-miR-421	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT2295723	hsa-miR-4262	CLIP-seq
MIRT1233102	hsa-miR-4427	CLIP-seq
MIRT1233103	hsa-miR-4432	CLIP-seq
MIRT2593631	hsa-miR-4491	CLIP-seq
MIRT1233105	hsa-miR-4499	CLIP-seq
MIRT1233107	hsa-miR-4501	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT2068607	hsa-miR-452	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT1233162	hsa-miR-4645-3p	CLIP-seq
MIRT2593633	hsa-miR-4657	CLIP-seq
MIRT1233113	hsa-miR-4668-3p	CLIP-seq
MIRT2068608	hsa-miR-4676-3p	CLIP-seq
MIRT2593634	hsa-miR-4699-3p	CLIP-seq
MIRT2593635	hsa-miR-4709-5p	CLIP-seq
MIRT2593636	hsa-miR-4729	CLIP-seq
MIRT2593637	hsa-miR-4768-5p	CLIP-seq
MIRT2593638	hsa-miR-4793-3p	CLIP-seq
MIRT2593639	hsa-miR-494	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233118	hsa-miR-499-5p	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT2593640	hsa-miR-548ag	CLIP-seq
MIRT2593641	hsa-miR-548ai	CLIP-seq
MIRT1233121	hsa-miR-548c-3p	CLIP-seq
MIRT2593642	hsa-miR-570	CLIP-seq
MIRT1233122	hsa-miR-586	CLIP-seq
MIRT1233123	hsa-miR-605	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT2593643	hsa-miR-767-3p	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT2593644	hsa-miR-935	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IBA
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA	16162815
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IEA
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI	16162815
GO:0005515	Function	Protein binding	IPI	8900170, 9463366, 10944123, 16162815, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16162815
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008194	Function	UDP-glycosyltransferase activity	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0017176	Function	Phosphatidylinositol N-acetylglucosaminyltransferase activity	IBA
GO:0017176	Function	Phosphatidylinositol N-acetylglucosaminyltransferase activity	IEA
GO:0017176	Function	Phosphatidylinositol N-acetylglucosaminyltransferase activity	TAS	16162815
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
311770	8957	ENSG00000165195

P37287

Protein name

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (EC 2.4.1.198) (GlcNAc-PI synthesis protein) (Phosphatidylinositol-glycan biosynthesis class A protein) (PIG-A)

Protein function

Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08288	PIGA	72 → 161	PIGA (GPI anchor biosynthesis)	Family
PF00534	Glycos_transf_1	214 → 371	Glycosyl transferases group 1	Family

Sequence

MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCL
IERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRE
RVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNH
IICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLV
QGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLE
KAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHC
GPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR

Sequence length

484

Interactions

View interactions

	KEGG		Reactome
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways		Synthesis of glycosylphosphatidylinositol (GPI)

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)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epileptic encephalopathy	Likely pathogenic	rs2519326142	RCV003484990	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely pathogenic; Pathogenic	rs1922179572, rs1921924356, rs2147714706, rs587777396, rs587777397, rs587777398, rs201119959, rs587777399, rs587777400, rs2147723760, rs2519331818, rs2519331917, rs2519324834, rs1060499625, rs387906726 View all (7 more)	RCV001330748 RCV001775167 RCV001374411 RCV000119283 RCV000119284 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder with epilepsy and hemochromatosis	Pathogenic; Likely pathogenic	rs587777399, rs2147723740, rs587777398	RCV002221150 RCV002221186 RCV002221259	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs2147717286, rs2519326142	RCV005887414 RCV005927747	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal nocturnal hemoglobinuria	Pathogenic; Likely pathogenic	rs587776723, rs199422232, rs587776724, rs587776725, rs199422233, rs587776726, rs587776727, rs587776728, rs2147717286, rs786200912	RCV001799594 RCV001799595 RCV001799596 RCV001799597 RCV001799598 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Paroxysmal nocturnal hemoglobinuria 1	Likely pathogenic; Pathogenic	rs1921924356, rs587777396, rs2147724073, rs2519321757, rs2147717286, rs2519331896, rs2519331925, rs2519331657, rs2519324628, rs1569180100, rs1921817445	RCV001335962 RCV004820831 RCV002249131 RCV003153135 RCV003228230 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PIGA-related disorder	Likely pathogenic; Pathogenic	rs2147714706, rs2519331621	RCV005232298 RCV003983820	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2147717286, rs2519326142	RCV005887415 RCV005927748	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLD PAROXYSMAL HEMOGLOBINURIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBINURIA, PAROXYSMAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCCUPATIONAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ 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
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (125)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	30914682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	10086790, 10233366, 12424196, 22315493, 25800665, 26132940, 8541558, 8619404, 9163589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Acquired	Anemia	BEFREE	11301179, 19074066, 8541557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	10086790, 10233366, 10233427, 11372733, 12424196, 12627846, 16467865, 22315493, 29974931, 8619404, 9163589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	12424196, 16923549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	25862562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12538342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	30914682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	30914682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	12130519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	11750098, 19118373, 19656154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	11750098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29656098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	19302917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CD59 Deficiency	CD59 Deficiency	BEFREE	10086790, 23149847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	25885527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral artery stenosis	Cerebral artery stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	21460244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cold paroxysmal hemoglobinuria	Paroxysmal cold hemoglobinuria	CTD_human_DG	15720958, 16767100		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Abnormalities	Congenital abnormalities	Pubtator	24259288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	26861493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	10086790, 16940417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	24259288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	25885527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26993267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28334793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	25885527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	26545172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early myoclonic encephalopathy	Myoclonic Encephalopathy	BEFREE	24706016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	24706016, 26545172, 29502866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24706016, 29502866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32220244	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	24259288, 26923721, 29656098		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ferro-cerebro-cutaneous syndrome	Ferrocerebrocutaneous Syndrome	BEFREE	24259288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ferro-cerebro-cutaneous syndrome	Ferrocerebrocutaneous Syndrome	ORPHANET_DG	24259288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ferro-cerebro-cutaneous syndrome	Ferrocerebrocutaneous Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	30914682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24259184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	24113066	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	25885527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	9238050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	11750098, 7485098, 9238050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	10086790, 10220445, 10233366, 10233427, 10520035, 10974022, 11301179, 11378665, 11703352, 11750098, 11756148, 11823033, 11929762, 12037021, 12130519 View all (67 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinuria, Paroxysmal	Paroxysmal Hemoglobinuria	LHGDN	12037021, 16923549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobinuria, Paroxysmal	Paroxysmal Hemoglobinuria	CTD_human_DG	15720958, 16767100		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolysis	Hemolysis	Pubtator	16940417, 8695823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	28337824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic anemia	Hypoplastic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31743483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23561847	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	26545172		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intervertebral disc disease	Intervertebral disc disease	Pubtator	25885527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intravascular hemolysis	Intravascular Hemolysis	BEFREE	11372757, 16940417, 19327587, 30504334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	24259288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	26545172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12130519, 16195329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11372733, 7530480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25885527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11212264, 27121470, 27637482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Maple syrup urine disease	Pubtator	25885527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	25220590, 28187452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	25885527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	UNIPROT_DG	22305531, 24259184, 24259288, 24706016, 26993267		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	GENOMICS_ENGLAND_DG	22305531, 22514539, 25885527, 27604308, 29656098		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	BEFREE	29974678		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	ORPHANET_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20060400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12627846, 16467865, 22315493, 25220590, 27121470, 28187452, 9695961		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	19118373, 22315493, 9695961	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	21460244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	24259288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24259288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	9233558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37006185	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	10086790, 10087994, 10220445, 10233427, 10389589, 10440907, 10520035, 10539884, 10556176, 10556178, 10571018, 10595753, 10627475, 10705158, 10914934 View all (112 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	CTD_human_DG	15720958, 16767100		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	ORPHANET_DG	22305531		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1	Paroxysmal nocturnal hemoglobinuria	UNIPROT_DG	10087994, 12037021, 8167330, 8306954, 8500164		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1	Paroxysmal nocturnal hemoglobinuria	GENOMICS_ENGLAND_DG	8500164		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1	Paroxysmal nocturnal hemoglobinuria	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	29656098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23561847, 24113066, 24259288, 25885527, 31618474	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)	Simpson-Golabi-Behmel Syndrome	BEFREE	26545172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	25885527, 32220244	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	21442308	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	9163589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	25862562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11378665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	12037021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	ORPHANET_DG	24357517		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PIGA (phosphatidylinositol glycan anchor biosynthesis class A)