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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51227
Gene name	Phosphatidylinositol glycan anchor biosynthesis class P
Gene symbol	PIGP
Synonyms (NCBI Gene)	DCRCDCRC-SDEE55DSCR5DSRCEIEE55PIG-P
Chromosome	21
Chromosome location	21q22.13
Summary	This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a compone

199

Show/Hide all (199)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051515	hsa-let-7e-5p	CLASH	23622248
MIRT044441	hsa-miR-320a	CLASH	23622248
MIRT693376	hsa-miR-890	HITS-CLIP	23313552
MIRT693375	hsa-miR-103b	HITS-CLIP	23313552
MIRT693374	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT693373	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT693372	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT646366	hsa-miR-22-3p	HITS-CLIP	23824327
MIRT646365	hsa-miR-5586-5p	HITS-CLIP	23824327
MIRT646364	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT646363	hsa-miR-4267	HITS-CLIP	23824327
MIRT646362	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646361	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT646359	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT646360	hsa-miR-6882-3p	HITS-CLIP	23824327
MIRT646358	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT637353	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT637352	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT637351	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT637350	hsa-miR-1208	HITS-CLIP	23824327
MIRT637349	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT637347	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT637348	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT637346	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637345	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637353	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT637352	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT637351	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT637350	hsa-miR-1208	HITS-CLIP	23824327
MIRT637349	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT637347	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT637348	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT637346	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637345	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT569467	hsa-miR-4724-5p	PAR-CLIP	20371350
MIRT569466	hsa-miR-4433b-3p	PAR-CLIP	20371350
MIRT569465	hsa-miR-3174	PAR-CLIP	20371350
MIRT569464	hsa-miR-4539	PAR-CLIP	20371350
MIRT569463	hsa-miR-4790-3p	PAR-CLIP	20371350
MIRT569461	hsa-miR-4513	PAR-CLIP	20371350
MIRT569462	hsa-miR-6855-3p	PAR-CLIP	20371350
MIRT569460	hsa-miR-6857-3p	PAR-CLIP	20371350
MIRT569459	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT569458	hsa-miR-4784	PAR-CLIP	20371350
MIRT569457	hsa-miR-1236-5p	PAR-CLIP	20371350
MIRT569456	hsa-miR-4765	PAR-CLIP	20371350
MIRT569455	hsa-miR-4792	PAR-CLIP	20371350
MIRT569454	hsa-miR-4710	PAR-CLIP	20371350
MIRT569453	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT569452	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT569451	hsa-miR-134-5p	PAR-CLIP	20371350
MIRT569450	hsa-miR-3118	PAR-CLIP	20371350
MIRT569449	hsa-miR-3136-5p	PAR-CLIP	20371350
MIRT569447	hsa-miR-4439	PAR-CLIP	20371350
MIRT569448	hsa-miR-4689	PAR-CLIP	20371350
MIRT569446	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT569445	hsa-miR-7855-5p	PAR-CLIP	20371350
MIRT569467	hsa-miR-4724-5p	PAR-CLIP	20371350
MIRT569466	hsa-miR-4433b-3p	PAR-CLIP	20371350
MIRT569465	hsa-miR-3174	PAR-CLIP	20371350
MIRT569464	hsa-miR-4539	PAR-CLIP	20371350
MIRT569463	hsa-miR-4790-3p	PAR-CLIP	20371350
MIRT569461	hsa-miR-4513	PAR-CLIP	20371350
MIRT569462	hsa-miR-6855-3p	PAR-CLIP	20371350
MIRT569460	hsa-miR-6857-3p	PAR-CLIP	20371350
MIRT569459	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT569458	hsa-miR-4784	PAR-CLIP	20371350
MIRT569457	hsa-miR-1236-5p	PAR-CLIP	20371350
MIRT569456	hsa-miR-4765	PAR-CLIP	20371350
MIRT569455	hsa-miR-4792	PAR-CLIP	20371350
MIRT569454	hsa-miR-4710	PAR-CLIP	20371350
MIRT569453	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT569452	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT569451	hsa-miR-134-5p	PAR-CLIP	20371350
MIRT569450	hsa-miR-3118	PAR-CLIP	20371350
MIRT569449	hsa-miR-3136-5p	PAR-CLIP	20371350
MIRT569447	hsa-miR-4439	PAR-CLIP	20371350
MIRT569448	hsa-miR-4689	PAR-CLIP	20371350
MIRT569446	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT569445	hsa-miR-7855-5p	PAR-CLIP	20371350
MIRT516658	hsa-miR-590-3p	PAR-CLIP	23446348
MIRT516657	hsa-miR-4524b-3p	PAR-CLIP	23446348
MIRT516652	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT516655	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT516656	hsa-miR-4524a-3p	PAR-CLIP	23446348
MIRT516653	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT516654	hsa-miR-4775	PAR-CLIP	23446348
MIRT516652	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT516651	hsa-miR-2113	PAR-CLIP	23446348
MIRT516650	hsa-miR-5010-3p	PAR-CLIP	23446348
MIRT456820	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT456821	hsa-miR-7515	PAR-CLIP	23592263
MIRT456819	hsa-miR-3179	PAR-CLIP	23592263
MIRT456818	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT456817	hsa-miR-298	PAR-CLIP	23592263
MIRT456816	hsa-miR-6828-5p	PAR-CLIP	23592263
MIRT456815	hsa-miR-4271	PAR-CLIP	23592263
MIRT456814	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT456813	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT456812	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT693376	hsa-miR-890	HITS-CLIP	23313552
MIRT693375	hsa-miR-103b	HITS-CLIP	23313552
MIRT693374	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT693373	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT693372	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT646366	hsa-miR-22-3p	HITS-CLIP	23824327
MIRT646365	hsa-miR-5586-5p	HITS-CLIP	23824327
MIRT646364	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT646363	hsa-miR-4267	HITS-CLIP	23824327
MIRT646362	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646361	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT646359	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT646360	hsa-miR-6882-3p	HITS-CLIP	23824327
MIRT646358	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT637353	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT637352	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT637351	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT637350	hsa-miR-1208	HITS-CLIP	23824327
MIRT637349	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT637347	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT637348	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT637346	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637345	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637353	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT637352	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT637351	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT637350	hsa-miR-1208	HITS-CLIP	23824327
MIRT637349	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT637347	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT637348	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT637346	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT637345	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT569467	hsa-miR-4724-5p	PAR-CLIP	20371350
MIRT569466	hsa-miR-4433b-3p	PAR-CLIP	20371350
MIRT569465	hsa-miR-3174	PAR-CLIP	20371350
MIRT569464	hsa-miR-4539	PAR-CLIP	20371350
MIRT569463	hsa-miR-4790-3p	PAR-CLIP	20371350
MIRT569461	hsa-miR-4513	PAR-CLIP	20371350
MIRT569462	hsa-miR-6855-3p	PAR-CLIP	20371350
MIRT569460	hsa-miR-6857-3p	PAR-CLIP	20371350
MIRT569459	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT569458	hsa-miR-4784	PAR-CLIP	20371350
MIRT569457	hsa-miR-1236-5p	PAR-CLIP	20371350
MIRT569456	hsa-miR-4765	PAR-CLIP	20371350
MIRT569455	hsa-miR-4792	PAR-CLIP	20371350
MIRT569454	hsa-miR-4710	PAR-CLIP	20371350
MIRT569453	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT569452	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT569451	hsa-miR-134-5p	PAR-CLIP	20371350
MIRT569450	hsa-miR-3118	PAR-CLIP	20371350
MIRT569449	hsa-miR-3136-5p	PAR-CLIP	20371350
MIRT569447	hsa-miR-4439	PAR-CLIP	20371350
MIRT569448	hsa-miR-4689	PAR-CLIP	20371350
MIRT569446	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT569445	hsa-miR-7855-5p	PAR-CLIP	20371350
MIRT569467	hsa-miR-4724-5p	PAR-CLIP	20371350
MIRT569466	hsa-miR-4433b-3p	PAR-CLIP	20371350
MIRT569465	hsa-miR-3174	PAR-CLIP	20371350
MIRT569464	hsa-miR-4539	PAR-CLIP	20371350
MIRT569463	hsa-miR-4790-3p	PAR-CLIP	20371350
MIRT569461	hsa-miR-4513	PAR-CLIP	20371350
MIRT569462	hsa-miR-6855-3p	PAR-CLIP	20371350
MIRT569460	hsa-miR-6857-3p	PAR-CLIP	20371350
MIRT569459	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT569458	hsa-miR-4784	PAR-CLIP	20371350
MIRT569457	hsa-miR-1236-5p	PAR-CLIP	20371350
MIRT569456	hsa-miR-4765	PAR-CLIP	20371350
MIRT569455	hsa-miR-4792	PAR-CLIP	20371350
MIRT569454	hsa-miR-4710	PAR-CLIP	20371350
MIRT569453	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT569452	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT569451	hsa-miR-134-5p	PAR-CLIP	20371350
MIRT569450	hsa-miR-3118	PAR-CLIP	20371350
MIRT569449	hsa-miR-3136-5p	PAR-CLIP	20371350
MIRT569447	hsa-miR-4439	PAR-CLIP	20371350
MIRT569448	hsa-miR-4689	PAR-CLIP	20371350
MIRT569446	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT569445	hsa-miR-7855-5p	PAR-CLIP	20371350
MIRT516658	hsa-miR-590-3p	PAR-CLIP	23446348
MIRT516657	hsa-miR-4524b-3p	PAR-CLIP	23446348
MIRT516652	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT516655	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT516656	hsa-miR-4524a-3p	PAR-CLIP	23446348
MIRT516653	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT516654	hsa-miR-4775	PAR-CLIP	23446348
MIRT516652	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT516651	hsa-miR-2113	PAR-CLIP	23446348
MIRT516650	hsa-miR-5010-3p	PAR-CLIP	23446348
MIRT456820	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT456821	hsa-miR-7515	PAR-CLIP	23592263
MIRT456819	hsa-miR-3179	PAR-CLIP	23592263
MIRT456818	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT456817	hsa-miR-298	PAR-CLIP	23592263
MIRT456816	hsa-miR-6828-5p	PAR-CLIP	23592263
MIRT456815	hsa-miR-4271	PAR-CLIP	23592263
MIRT456814	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT456813	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT456812	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT2068683	hsa-miR-664	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA	10944123, 16162815
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI	16162815
GO:0005515	Function	Protein binding	IPI	10944123, 16162815, 32296183, 32814053, 33961781
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16162815
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IDA	16162815
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	IMP	28334793
GO:0016020	Component	Membrane	IEA
GO:0017176	Function	Phosphatidylinositol N-acetylglucosaminyltransferase activity	IDA	10944123
GO:0017176	Function	Phosphatidylinositol N-acetylglucosaminyltransferase activity	IEA

MIM	HGNC	e!Ensembl
605938	3046	ENSG00000185808

P57054

Protein name

Phosphatidylinositol N-acetylglucosaminyltransferase subunit P (Down syndrome critical region protein 5) (Down syndrome critical region protein C) (Phosphatidylinositol-glycan biosynthesis class P protein) (PIG-P)

Protein function

Part 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 GPI biosynth

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08510	PIG-P	35 → 148	PIG-P	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MVPRSTSLTLIVFLFHRLSKAPGKMVENSPSPLPERAIYGFVLFLSSQFGFILYLVWAFI
PESWLNSLGLTYWPQKYWAVALPVYLLIAIVIGYVLLFGINMMSTSPLDSIHTITDNYAK
NQQQKKYQEEAIPALRDISISEVNQMFFLAAKELYTKN

Sequence length

158

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs778481061, rs768633670	RCV000449561 RCV000449500	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 55	Likely pathogenic; Pathogenic	rs778481061, rs768633670	RCV000496365 RCV000496825	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PIGP-related disorder	Likely pathogenic; Pathogenic	rs768633670	RCV004758690	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (46)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31139695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10814524, 11331941, 15221505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	11331941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	34127780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	ORPHANET_DG	28334793		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31139695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55	Epileptic encephalopathy	UNIPROT_DG	28334793		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	31139695		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized clonic seizures	Clonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31139695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31139695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	24763052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	24763052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31139695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual Cortex Disorder	Visual cortex disease	GENOMICS_ENGLAND_DG	31139695		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	28334793		★★★★★ ★☆☆☆☆ Found in Text Mining only

PIGP (phosphatidylinositol glycan anchor biosynthesis class P)