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	56623
Gene name	Inositol polyphosphate-5-phosphatase E
Gene symbol	INPP5E
Synonyms (NCBI Gene)	CORS1CPD4JBTS1MORMSPPI5PIVpharbin
Chromosome	9
Chromosome location	9q34.3
Summary	The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. S

Show/Hide all (31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs13297509	G>A,T	Pathogenic, likely-benign	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs121918127	G>A,C	Pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121918128	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121918129	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121918130	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs142759730	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs147967974	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs199956627	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs746212325	C>A,G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs746867724	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs752300607	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs754637179	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs756789619	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs757222534	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs774331779	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs775518991	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs779450345	C>-,CC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs780882740	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225197	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225198	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225199	GT>-	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, downstream transcript variant, frameshift variant
rs863225200	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225201	C>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225202	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886041204	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1024279229	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057517749	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1332623576	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1431917892	C>-	Likely-pathogenic	Downstream transcript variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1564430716	A>C	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs1588830568	C>T	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant, non coding transcript variant

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039344	hsa-miR-425-5p	CLASH	23622248
MIRT1067380	hsa-miR-1	CLIP-seq
MIRT1067381	hsa-miR-1273f	CLIP-seq
MIRT1067382	hsa-miR-1284	CLIP-seq
MIRT1067383	hsa-miR-1293	CLIP-seq
MIRT1067384	hsa-miR-1302	CLIP-seq
MIRT1067385	hsa-miR-1304	CLIP-seq
MIRT1067386	hsa-miR-1305	CLIP-seq
MIRT1067387	hsa-miR-206	CLIP-seq
MIRT1067388	hsa-miR-3184	CLIP-seq
MIRT1067389	hsa-miR-330-3p	CLIP-seq
MIRT1067390	hsa-miR-335	CLIP-seq
MIRT1067391	hsa-miR-342-5p	CLIP-seq
MIRT1067392	hsa-miR-3650	CLIP-seq
MIRT1067393	hsa-miR-3673	CLIP-seq
MIRT1067394	hsa-miR-423-5p	CLIP-seq
MIRT1067395	hsa-miR-4298	CLIP-seq
MIRT1067396	hsa-miR-4459	CLIP-seq
MIRT1067397	hsa-miR-4483	CLIP-seq
MIRT1067398	hsa-miR-4651	CLIP-seq
MIRT1067399	hsa-miR-4664-5p	CLIP-seq
MIRT1067400	hsa-miR-4755-3p	CLIP-seq
MIRT1067401	hsa-miR-498	CLIP-seq
MIRT1067402	hsa-miR-608	CLIP-seq
MIRT1067403	hsa-miR-613	CLIP-seq
MIRT1067404	hsa-miR-665	CLIP-seq
MIRT1067385	hsa-miR-1304	CLIP-seq
MIRT1067388	hsa-miR-3184	CLIP-seq
MIRT2016317	hsa-miR-326	CLIP-seq
MIRT2016318	hsa-miR-330-5p	CLIP-seq
MIRT2016319	hsa-miR-378g	CLIP-seq
MIRT1067394	hsa-miR-423-5p	CLIP-seq
MIRT2016320	hsa-miR-4437	CLIP-seq
MIRT2016321	hsa-miR-4667-5p	CLIP-seq
MIRT2016322	hsa-miR-4674	CLIP-seq
MIRT2016323	hsa-miR-4700-5p	CLIP-seq
MIRT1067400	hsa-miR-4755-3p	CLIP-seq
MIRT2016324	hsa-miR-4787-5p	CLIP-seq
MIRT2016325	hsa-miR-637	CLIP-seq
MIRT2016326	hsa-miR-760	CLIP-seq
MIRT1067385	hsa-miR-1304	CLIP-seq
MIRT2248620	hsa-miR-139-3p	CLIP-seq
MIRT1067388	hsa-miR-3184	CLIP-seq
MIRT2248621	hsa-miR-3940-3p	CLIP-seq
MIRT1067394	hsa-miR-423-5p	CLIP-seq
MIRT2248622	hsa-miR-4436b-5p	CLIP-seq
MIRT1067396	hsa-miR-4459	CLIP-seq
MIRT2248623	hsa-miR-4530	CLIP-seq
MIRT1067400	hsa-miR-4755-3p	CLIP-seq
MIRT2248624	hsa-miR-616	CLIP-seq
MIRT1067404	hsa-miR-665	CLIP-seq
MIRT2248625	hsa-miR-671-3p	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001726	Component	Ruffle	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	TAS
GO:0004445	Function	Inositol-polyphosphate 5-phosphatase activity	IEA
GO:0004445	Function	Inositol-polyphosphate 5-phosphatase activity	TAS	10764818
GO:0005515	Function	Protein binding	IPI	28514442, 33961781, 35271311, 36931259
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IDA	19668215
GO:0005930	Component	Axoneme	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0006796	Process	Phosphate-containing compound metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016314	Function	Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0017148	Process	Negative regulation of translation	IEA
GO:0019637	Process	Organophosphate metabolic process	IEA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	IEA
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0106019	Function	Phosphatidylinositol-4,5-bisphosphate phosphatase activity	IEA
GO:0120025	Component	Plasma membrane bounded cell projection	IEA
GO:1902140	Process	Response to inositol	IEA
GO:1903565	Process	Negative regulation of protein localization to cilium	IEA

MIM	HGNC	e!Ensembl
613037	21474	ENSG00000148384

Q9NRR6

Protein name

Phosphatidylinositol polyphosphate 5-phosphatase type IV (72 kDa inositol polyphosphate 5-phosphatase) (Inositol polyphosphate-5-phosphatase E) (Phosphatidylinositol 4,5-bisphosphate 5-phosphatase) (EC 3.1.3.36) (Phosphatidylinositol-3,4,5-trisphosphate 5

Protein function

Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate

PDB

2XSW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03372	Exo_endo_phos	304 → 584	Endonuclease/Exonuclease/phosphatase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in brain, heart, pancreas, testis and spleen. {ECO:0000269|PubMed:10764818}.

Sequence

MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPALACSTPATPSG
EDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQEDLEARNGTSPSRGSVQSEG
PGAPAHSCSPPCLSTSLQEIPKSRGVLSSERGSPSSGGNPLSGVASSSPNLPHRDAAVAG
SSPRLPSLLPPRPPPALSLDIASDSLRTANKVDSDLADYKLRAQPLLVRAHSSLGPGRPR
SPLACDDCSLRSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVA
LFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWETRLQETLGPHY
VLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQIKTKGALGISFTFFGTSFLF
ITSHFTSGDGKVAERLLDYTRTVQALVLPRNVPDTNPYRSSAADVTTRFDEVFWFGDFNF
RLSGGRTVVDALLCQGLVVDVPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGK
DTYDSTSKQRTPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRD
NIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS

Sequence length

644

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system		Synthesis of PIPs at the Golgi membrane ARL13B-mediated ciliary trafficking of INPP5E

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
INPP5E-related disorder	Pathogenic; Likely pathogenic	rs1191043398, rs753398503, rs121918129, rs121918130, rs763992407, rs775518991, rs754637179, rs756789619, rs779450345, rs771866500, rs1346748926	RCV004757422 RCV004531191 RCV004755693 RCV004532266 RCV004529107 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome	Likely pathogenic; Pathogenic	rs775094328, rs992814593, rs1835733198, rs1191043398, rs753398503, rs2131608672, rs2131620472, rs2131605763, rs2131619961, rs756888841, rs2131604859, rs2131607846, rs2131620438, rs13297509, rs121918129 View all (28 more)	RCV001341624 RCV001871983 RCV001379011 RCV001388913 RCV001381205 View all (40 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Likely pathogenic; Pathogenic	rs992814593, rs121918127, rs13297509, rs121918128, rs121918129, rs121918130, rs1308391041, rs1359373777, rs886063713, rs756789619, rs142759730, rs771866500, rs763184652, rs779450345	RCV005050361 RCV005041961 RCV000022402 RCV000022403 RCV000022404 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs121918128, rs121918130, rs2131608743, rs2131605715, rs763992407, rs2538870759, rs863225200, rs746212325, rs2538869723, rs756789619, rs779450345, rs771866500, rs1588830568	RCV004700175 RCV002265543 RCV002222943 RCV002238655 RCV002238656 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs1588830568	RCV001003058	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MORM syndrome	Likely pathogenic; Pathogenic	rs992814593, rs121918127, rs13297509, rs121918129, rs121918130, rs886063713, rs142759730, rs771866500, rs779450345	RCV005050361 RCV000000427 RCV005049303 RCV005049304 RCV005394101 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121918129, rs779450345	RCV001073387 RCV001073383	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-cone dystrophy	Likely pathogenic; Pathogenic	rs992814593, rs2131610473, rs775518991, rs142759730, rs1588830568, rs779450345	RCV001376234 RCV001376360 RCV001376306 RCV001376304 RCV001376300 RCV001376431 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (35)

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.
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LUNG DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF PART OF BRAIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEMIVERTEBRA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF FEMUR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PART OF BRAIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASES, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH HEPATIC DEFECT	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH OCULAR DEFECT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGNATHISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PATENT DUCTUS ARTERIOSUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENILE DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKELETAL DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (123)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Medulloblastoma	Medulloblastoma	BEFREE	28650469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	33270637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	34211432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	19668215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28650469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CTD_human_DG	19668215, 19668216		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	BEFREE	19668215, 23386033, 25395580, 27056978, 27401686, 30235266, 31173343, 31851930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	21068128, 25395580	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
COACH syndrome	Joubert syndrome with congenital hepatic fibrosis	ORPHANET_DG	19668216		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma	Coloboma	Pubtator	23386033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29257251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic kidney	Cystic Kidney Disease	BEFREE	27401686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28031327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33168985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	34211432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	27056978, 30265301, 30321068, 31625572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases, Hereditary	Eye Diseases	CTD_human_DG	19668215		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	12908130, 23386033, 24166846, 26490104, 27401686, 27927754, 27998989, 29052317		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	19668215, 19668216, 23386033		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	19668216		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	CTD_human_DG	19668216		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	23022135, 23386033, 26748598		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	30235266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	39337513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37830570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	34211432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	34211432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of spine	Hypoplasia Of Spine	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	25766683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	34211432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	19668215		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome	Joubert syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Joubert Syndrome	UNIPROT_DG	19668216, 23034536, 23386033, 29052317		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	19668216		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Joubert Syndrome	GENOMICS_ENGLAND_DG	19668216, 23022135, 23386033, 26748598, 31173343		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Joubert Syndrome	CTD_human_DG	19668216		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Joubert Syndrome	CLINVAR_DG	26092869		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome with hepatic defect	Joubert Syndrome With Hepatic Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome with ocular defect	Joubert Syndrome With Ocular Defect	ORPHANET_DG	19668216, 23386033		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome with ocular defect	Joubert Syndrome With Ocular Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28650469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	23386033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28650469		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23443536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	19668215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MORM syndrome	MORM Syndrome	BEFREE	19668215, 31173343		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MORM syndrome	MORM Syndrome	ORPHANET_DG	19668215		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MORM syndrome	MORM Syndrome	GENOMICS_ENGLAND_DG	19668215, 19668216, 23022135, 31173343		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MORM syndrome	MORM Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MORM syndrome	MORM Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MORM syndrome	MORM Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23443536, 28650469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	33306870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	27998989, 29626185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	19668215		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	34211432	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Occipital Encephalocele	Occipital Encephalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	12428211, 9430698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	7761412, 9593760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	BEFREE	26748598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penile Diseases	Penile Diseases	CTD_human_DG	19668215		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	27056978, 30265301, 30321068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	25869670, 27998989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	15786477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	CTD_human_DG	19668215, 19668216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	19668215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	25999675, 33808286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	33306870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea Syndromes	Sleep apnea	Pubtator	34211432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	39213249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

INPP5E (inositol polyphosphate-5-phosphatase E)