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	23556
Gene name	Phosphatidylinositol glycan anchor biosynthesis class N
Gene symbol	PIGN
Synonyms (NCBI Gene)	GPI-ETIMCAHSMCAHS1MCD4MDC4PIG-N
Chromosome	18
Chromosome location	18q21.33
Summary	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmi

Show/Hide all (43)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199573774	G>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs200199765	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs201835155	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs369486176	C>T	Pathogenic	Intron variant
rs376226764	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs376355678	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs397514475	C>T	Pathogenic	Missense variant, coding sequence variant
rs548412299	A>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs558341655	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587777186	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs587777187	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs746882521	A>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs749334082	A>T	Pathogenic	Stop gained, coding sequence variant
rs750418747	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs759453664	C>A,T	Likely-pathogenic	Splice acceptor variant
rs760977825	C>G	Pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant
rs768557691	->A	Pathogenic	Frameshift variant, coding sequence variant
rs773629540	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs776697598	->C	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs779636222	ACAAACCT>-	Likely-pathogenic, pathogenic	Splice donor variant, intron variant, coding sequence variant
rs886039216	T>A	Pathogenic	Coding sequence variant, missense variant
rs886039217	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039218	T>A	Pathogenic	Coding sequence variant, stop gained
rs886041514	CC>TT	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1057518061	C>G	Likely-pathogenic	Intron variant
rs1060499763	A>C	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs1064793808	TTA>CT	Likely-pathogenic	Stop gained, intron variant, inframe indel, coding sequence variant
rs1251827296	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1287655964	C>A,T	Pathogenic	Splice donor variant
rs1382897257	G>A	Pathogenic	Coding sequence variant, stop gained
rs1462805697	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1555682938	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555683948	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555685797	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1555694770	C>T	Likely-pathogenic	Splice donor variant
rs1555696769	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555696900	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1568224018	C>A	Likely-pathogenic	Splice donor variant
rs1599520660	A>T	Likely-pathogenic	Splice donor variant
rs1599525360	C>T	Likely-pathogenic	Splice acceptor variant
rs1599531710	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1599554145	ACTTCA>G	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1599663316	G>A	Likely-pathogenic	Coding sequence variant, missense variant

177

Show/Hide all (177)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016952	hsa-miR-335-5p	Microarray	18185580
MIRT030697	hsa-miR-21-5p	Microarray	18591254
MIRT052542	hsa-let-7a-5p	CLASH	23622248
MIRT051603	hsa-let-7e-5p	CLASH	23622248
MIRT048378	hsa-miR-29b-3p	CLASH	23622248
MIRT529120	hsa-miR-3617-5p	PAR-CLIP	22012620
MIRT529119	hsa-miR-641	PAR-CLIP	22012620
MIRT529117	hsa-miR-3924	PAR-CLIP	22012620
MIRT529118	hsa-miR-337-3p	PAR-CLIP	22012620
MIRT529116	hsa-miR-202-5p	PAR-CLIP	22012620
MIRT529115	hsa-miR-568	PAR-CLIP	22012620
MIRT529120	hsa-miR-3617-5p	PAR-CLIP	22012620
MIRT529119	hsa-miR-641	PAR-CLIP	22012620
MIRT529117	hsa-miR-3924	PAR-CLIP	22012620
MIRT529118	hsa-miR-337-3p	PAR-CLIP	22012620
MIRT529116	hsa-miR-202-5p	PAR-CLIP	22012620
MIRT529115	hsa-miR-568	PAR-CLIP	22012620
MIRT1233419	hsa-miR-1179	CLIP-seq
MIRT1233420	hsa-miR-1323	CLIP-seq
MIRT1233421	hsa-miR-137	CLIP-seq
MIRT1233422	hsa-miR-153	CLIP-seq
MIRT1233423	hsa-miR-186	CLIP-seq
MIRT1233424	hsa-miR-25	CLIP-seq
MIRT1233425	hsa-miR-3133	CLIP-seq
MIRT1233426	hsa-miR-32	CLIP-seq
MIRT1233427	hsa-miR-363	CLIP-seq
MIRT1233428	hsa-miR-367	CLIP-seq
MIRT1233429	hsa-miR-425	CLIP-seq
MIRT1233430	hsa-miR-448	CLIP-seq
MIRT1233431	hsa-miR-4517	CLIP-seq
MIRT1233432	hsa-miR-4662a-3p	CLIP-seq
MIRT1233433	hsa-miR-4744	CLIP-seq
MIRT1233434	hsa-miR-539	CLIP-seq
MIRT1233435	hsa-miR-548an	CLIP-seq
MIRT1233436	hsa-miR-548o	CLIP-seq
MIRT1233437	hsa-miR-577	CLIP-seq
MIRT1233438	hsa-miR-92a	CLIP-seq
MIRT1233439	hsa-miR-92b	CLIP-seq
MIRT1233440	hsa-miR-139-5p	CLIP-seq
MIRT1233441	hsa-miR-3120-3p	CLIP-seq
MIRT1233442	hsa-miR-3157-5p	CLIP-seq
MIRT1233443	hsa-miR-3667-3p	CLIP-seq
MIRT1233444	hsa-miR-4267	CLIP-seq
MIRT1233445	hsa-miR-4277	CLIP-seq
MIRT1233446	hsa-miR-4420	CLIP-seq
MIRT1233447	hsa-miR-4691-3p	CLIP-seq
MIRT1233448	hsa-miR-4774-5p	CLIP-seq
MIRT1233449	hsa-miR-582-5p	CLIP-seq
MIRT2068682	hsa-miR-3974	CLIP-seq
MIRT2295792	hsa-miR-1206	CLIP-seq
MIRT2295793	hsa-miR-223	CLIP-seq
MIRT2295794	hsa-miR-4328	CLIP-seq
MIRT2295795	hsa-miR-433	CLIP-seq
MIRT2295796	hsa-miR-4502	CLIP-seq
MIRT2295797	hsa-miR-4711-5p	CLIP-seq
MIRT2295798	hsa-miR-4762-3p	CLIP-seq
MIRT2295799	hsa-miR-4789-5p	CLIP-seq
MIRT2295800	hsa-miR-548ae	CLIP-seq
MIRT2295801	hsa-miR-548aj	CLIP-seq
MIRT2295802	hsa-miR-548am	CLIP-seq
MIRT2295803	hsa-miR-548x	CLIP-seq
MIRT2295804	hsa-miR-605	CLIP-seq
MIRT1233419	hsa-miR-1179	CLIP-seq
MIRT2593783	hsa-miR-1202	CLIP-seq
MIRT2593784	hsa-miR-1205	CLIP-seq
MIRT2593785	hsa-miR-127-5p	CLIP-seq
MIRT1233421	hsa-miR-137	CLIP-seq
MIRT2593786	hsa-miR-147b	CLIP-seq
MIRT1233422	hsa-miR-153	CLIP-seq
MIRT1233423	hsa-miR-186	CLIP-seq
MIRT2593787	hsa-miR-203	CLIP-seq
MIRT2593788	hsa-miR-210	CLIP-seq
MIRT2593789	hsa-miR-22	CLIP-seq
MIRT1233424	hsa-miR-25	CLIP-seq
MIRT2593790	hsa-miR-299-3p	CLIP-seq
MIRT1233425	hsa-miR-3133	CLIP-seq
MIRT2593791	hsa-miR-3144-5p	CLIP-seq
MIRT2593792	hsa-miR-3145-3p	CLIP-seq
MIRT2593793	hsa-miR-3148	CLIP-seq
MIRT2593794	hsa-miR-3191	CLIP-seq
MIRT2593795	hsa-miR-3194-5p	CLIP-seq
MIRT1233426	hsa-miR-32	CLIP-seq
MIRT2593796	hsa-miR-326	CLIP-seq
MIRT2593797	hsa-miR-330-5p	CLIP-seq
MIRT2593798	hsa-miR-3591-3p	CLIP-seq
MIRT1233427	hsa-miR-363	CLIP-seq
MIRT2593799	hsa-miR-3665	CLIP-seq
MIRT1233428	hsa-miR-367	CLIP-seq
MIRT2593800	hsa-miR-382	CLIP-seq
MIRT2593801	hsa-miR-3907	CLIP-seq
MIRT2593802	hsa-miR-3972	CLIP-seq
MIRT1233429	hsa-miR-425	CLIP-seq
MIRT2593803	hsa-miR-4251	CLIP-seq
MIRT2593804	hsa-miR-4279	CLIP-seq
MIRT2593805	hsa-miR-4313	CLIP-seq
MIRT2593806	hsa-miR-4324	CLIP-seq
MIRT2593807	hsa-miR-4452	CLIP-seq
MIRT1233430	hsa-miR-448	CLIP-seq
MIRT2593808	hsa-miR-4491	CLIP-seq
MIRT1233431	hsa-miR-4517	CLIP-seq
MIRT2593809	hsa-miR-4635	CLIP-seq
MIRT2593810	hsa-miR-4646-5p	CLIP-seq
MIRT2593811	hsa-miR-4648	CLIP-seq
MIRT2593812	hsa-miR-4652-5p	CLIP-seq
MIRT2593813	hsa-miR-4654	CLIP-seq
MIRT2593814	hsa-miR-4657	CLIP-seq
MIRT1233432	hsa-miR-4662a-3p	CLIP-seq
MIRT2593815	hsa-miR-4667-5p	CLIP-seq
MIRT2593816	hsa-miR-4700-5p	CLIP-seq
MIRT1233433	hsa-miR-4744	CLIP-seq
MIRT2593817	hsa-miR-4747-5p	CLIP-seq
MIRT2593818	hsa-miR-4769-5p	CLIP-seq
MIRT2593819	hsa-miR-499-3p	CLIP-seq
MIRT2593820	hsa-miR-499a-3p	CLIP-seq
MIRT1233434	hsa-miR-539	CLIP-seq
MIRT2593821	hsa-miR-558	CLIP-seq
MIRT2593822	hsa-miR-561	CLIP-seq
MIRT2593823	hsa-miR-657	CLIP-seq
MIRT2593824	hsa-miR-764	CLIP-seq
MIRT2593825	hsa-miR-889	CLIP-seq
MIRT1233438	hsa-miR-92a	CLIP-seq
MIRT1233439	hsa-miR-92b	CLIP-seq
MIRT1233419	hsa-miR-1179	CLIP-seq
MIRT2593783	hsa-miR-1202	CLIP-seq
MIRT2593784	hsa-miR-1205	CLIP-seq
MIRT1233421	hsa-miR-137	CLIP-seq
MIRT2593786	hsa-miR-147b	CLIP-seq
MIRT1233422	hsa-miR-153	CLIP-seq
MIRT1233423	hsa-miR-186	CLIP-seq
MIRT2593788	hsa-miR-210	CLIP-seq
MIRT2593789	hsa-miR-22	CLIP-seq
MIRT1233424	hsa-miR-25	CLIP-seq
MIRT2593790	hsa-miR-299-3p	CLIP-seq
MIRT1233425	hsa-miR-3133	CLIP-seq
MIRT2593791	hsa-miR-3144-5p	CLIP-seq
MIRT2593792	hsa-miR-3145-3p	CLIP-seq
MIRT2593794	hsa-miR-3191	CLIP-seq
MIRT2593795	hsa-miR-3194-5p	CLIP-seq
MIRT1233426	hsa-miR-32	CLIP-seq
MIRT2593796	hsa-miR-326	CLIP-seq
MIRT2593797	hsa-miR-330-5p	CLIP-seq
MIRT2593798	hsa-miR-3591-3p	CLIP-seq
MIRT1233427	hsa-miR-363	CLIP-seq
MIRT2593799	hsa-miR-3665	CLIP-seq
MIRT1233428	hsa-miR-367	CLIP-seq
MIRT2593800	hsa-miR-382	CLIP-seq
MIRT2593801	hsa-miR-3907	CLIP-seq
MIRT2593802	hsa-miR-3972	CLIP-seq
MIRT1233429	hsa-miR-425	CLIP-seq
MIRT2593803	hsa-miR-4251	CLIP-seq
MIRT2593804	hsa-miR-4279	CLIP-seq
MIRT2593805	hsa-miR-4313	CLIP-seq
MIRT2593806	hsa-miR-4324	CLIP-seq
MIRT2593807	hsa-miR-4452	CLIP-seq
MIRT1233430	hsa-miR-448	CLIP-seq
MIRT2593808	hsa-miR-4491	CLIP-seq
MIRT1233431	hsa-miR-4517	CLIP-seq
MIRT2593810	hsa-miR-4646-5p	CLIP-seq
MIRT2593811	hsa-miR-4648	CLIP-seq
MIRT2593812	hsa-miR-4652-5p	CLIP-seq
MIRT2593813	hsa-miR-4654	CLIP-seq
MIRT2593814	hsa-miR-4657	CLIP-seq
MIRT1233432	hsa-miR-4662a-3p	CLIP-seq
MIRT2593815	hsa-miR-4667-5p	CLIP-seq
MIRT2593816	hsa-miR-4700-5p	CLIP-seq
MIRT1233433	hsa-miR-4744	CLIP-seq
MIRT2593817	hsa-miR-4747-5p	CLIP-seq
MIRT2593818	hsa-miR-4769-5p	CLIP-seq
MIRT2593819	hsa-miR-499-3p	CLIP-seq
MIRT2593820	hsa-miR-499a-3p	CLIP-seq
MIRT1233434	hsa-miR-539	CLIP-seq
MIRT2593821	hsa-miR-558	CLIP-seq
MIRT2593823	hsa-miR-657	CLIP-seq
MIRT2593824	hsa-miR-764	CLIP-seq
MIRT2593825	hsa-miR-889	CLIP-seq
MIRT1233438	hsa-miR-92a	CLIP-seq
MIRT1233439	hsa-miR-92b	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	ISS
GO:0006506	Process	GPI anchor biosynthetic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0051377	Function	Mannose-ethanolamine phosphotransferase activity	IBA
GO:0051377	Function	Mannose-ethanolamine phosphotransferase activity	IEA
GO:0051377	Function	Mannose-ethanolamine phosphotransferase activity	ISS
GO:0051377	Function	Mannose-ethanolamine phosphotransferase activity	TAS

MIM	HGNC	e!Ensembl
606097	8967	ENSG00000197563

O95427

Protein name

GPI ethanolamine phosphate transferase 1 (EC 2.-.-.-) (GPI-ethanolamine transferase I) (GPI-ETI) (MCD4 homolog) (Phosphatidylinositol-glycan biosynthesis class N protein) (PIG-N)

Protein function

Ethanolamine phosphate transferase that catalyzes an ethanolamine phosphate (EtNP) transfer from phosphatidylethanolamine (PE) to the 2-OH position of the first alpha-1,4-linked mannose of the alpha-D-Man-(1->6)-alpha-D-Man-(1->4)-alpha-D-GlcN-(

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01663	Phosphodiest	116 → 287	Type I phosphodiesterase / nucleotide pyrophosphatase	Family
PF04987	PigN	430 → 884	Phosphatidylinositolglycan class N (PIG-N)	Family

Sequence

MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALY
ELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENP
VEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFD
NVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKE
IVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQ
FDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESM
FTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSL
CKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKP
SHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYP
LSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSL
LLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLST
VLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMST
YLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLY
LDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFV
LVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMS
MTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM

Sequence length

931

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Multiple congenital anomalies-hypotonia-seizures syndrome	Likely pathogenic; Pathogenic	rs779636222, rs1555694770	RCV000609184 RCV000605005	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple congenital anomalies-hypotonia-seizures syndrome 1	Likely pathogenic; Pathogenic	rs765995917, rs747283967, rs2147221657, rs1000602230, rs2147517939, rs2145961535, rs587777186, rs587777187, rs778689280, rs1215392490, rs2146439342, rs2147616335, rs371315187, rs1173098029, rs772411133 View all (123 more)	RCV001388324 RCV001328536 RCV001726505 RCV001379611 RCV001377538 View all (138 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (28)

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.
Abnormal brain morphology	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ 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
ENDOCRINE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely 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 tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PIGN-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	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; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (105)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28187452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18839399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26394714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	24253414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	23446422	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23446422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23446422, 35682850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	26364997, 26394714, 35468813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	24852103, 27038415, 29330547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dilatation of ureter	Congenital megaureter	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	24852103, 26394714, 27038415, 29096607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26394714, 35468813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	BEFREE	27891564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10574991, 18635593, 21493957, 24253414, 24852103, 25920937, 26364997, 26394714, 26419326, 26879448, 27038415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	24253414, 29096607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopic anus	Ectopic anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24253414, 26394714, 29096607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26394714, 32220244, 35468813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	32220244	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35468813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	35468813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fryns syndrome	Fryns Syndrome	BEFREE	27038415, 28817240, 29330547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fryns syndrome	Fryns Syndrome	ORPHANET_DG	27038415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fryns syndrome	Fryns Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	26394714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosylphosphatidylinositol deficiency	Glycosylphosphatidylinositol Deficiency	BEFREE	26419326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	33966742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	29310717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23561847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29096607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	28187452, 34561473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28187452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28187452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	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
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	28187452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10574991, 18635593, 21493957, 24253414, 24852103, 25920937, 26364997, 26394714, 26419326, 26879448, 27038415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies-hypotonia-seizures syndrome	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	GENOMICS_ENGLAND_DG	21493957, 26394714, 26419326, 27038415, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	UNIPROT_DG	21493957		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	ORPHANET_DG	21493957		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	CLINVAR_DG	24253414, 26394714, 26419326, 26879448, 27038415, 28327575		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	BEFREE	26364997, 26394714, 27891564, 29330547		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28187452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	28187452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	GWASDB_DG	20436471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	GWASDB_DG	20436471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial absence of cerebellar vermis	Partial absence of cerebellar vermis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29097816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23561847, 35468813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van der woude syndrome	Pubtator	25920937	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vertical Nystagmus	Vertical nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PIGN (phosphatidylinositol glycan anchor biosynthesis class N)