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	10577
Gene name	NPC intracellular cholesterol transporter 2
Gene symbol	NPC2
Synonyms (NCBI Gene)	EDDM1HE1
Chromosome	14
Chromosome location	14q24.3
Summary	This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disea

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11694	A>G	Pathogenic	Coding sequence variant, missense variant
rs80358261	C>T	Pathogenic	Missense variant, coding sequence variant
rs80358262	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs80358263	G>T	Pathogenic	Stop gained, coding sequence variant
rs80358264	A>G	Pathogenic	Missense variant, coding sequence variant
rs80358266	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs80358268	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs104894458	G>A	Pathogenic	Missense variant, coding sequence variant
rs151220873	C>T	Benign, benign-likely-benign, likely-pathogenic	Coding sequence variant, missense variant
rs1555345873	TCTA>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, intron variant

157

Show/Hide all (157)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049322	hsa-miR-92a-3p	CLASH	23622248
MIRT1190538	hsa-miR-2053	CLIP-seq
MIRT1190539	hsa-miR-302a	CLIP-seq
MIRT1190540	hsa-miR-302b	CLIP-seq
MIRT1190541	hsa-miR-302c	CLIP-seq
MIRT1190542	hsa-miR-302d	CLIP-seq
MIRT1190543	hsa-miR-302e	CLIP-seq
MIRT1190544	hsa-miR-3180-5p	CLIP-seq
MIRT1190545	hsa-miR-335	CLIP-seq
MIRT1190546	hsa-miR-372	CLIP-seq
MIRT1190547	hsa-miR-373	CLIP-seq
MIRT1190548	hsa-miR-3934	CLIP-seq
MIRT1190549	hsa-miR-409-3p	CLIP-seq
MIRT1190550	hsa-miR-4272	CLIP-seq
MIRT1190551	hsa-miR-4686	CLIP-seq
MIRT1190552	hsa-miR-4717-5p	CLIP-seq
MIRT1190553	hsa-miR-512-3p	CLIP-seq
MIRT1190554	hsa-miR-513a-3p	CLIP-seq
MIRT1190555	hsa-miR-520a-3p	CLIP-seq
MIRT1190556	hsa-miR-520b	CLIP-seq
MIRT1190557	hsa-miR-520c-3p	CLIP-seq
MIRT1190558	hsa-miR-520d-3p	CLIP-seq
MIRT1190559	hsa-miR-520e	CLIP-seq
MIRT1190560	hsa-miR-569	CLIP-seq
MIRT1190561	hsa-miR-583	CLIP-seq
MIRT2055168	hsa-miR-127-5p	CLIP-seq
MIRT2055169	hsa-miR-214	CLIP-seq
MIRT2055170	hsa-miR-3187-3p	CLIP-seq
MIRT1190545	hsa-miR-335	CLIP-seq
MIRT2055171	hsa-miR-3619-5p	CLIP-seq
MIRT2055172	hsa-miR-4291	CLIP-seq
MIRT2055173	hsa-miR-4435	CLIP-seq
MIRT2055174	hsa-miR-4701-5p	CLIP-seq
MIRT2055175	hsa-miR-4771	CLIP-seq
MIRT2055176	hsa-miR-548s	CLIP-seq
MIRT2055177	hsa-miR-588	CLIP-seq
MIRT2055178	hsa-miR-761	CLIP-seq
MIRT2055179	hsa-miR-922	CLIP-seq
MIRT2284116	hsa-miR-1203	CLIP-seq
MIRT2284117	hsa-miR-1208	CLIP-seq
MIRT2055169	hsa-miR-214	CLIP-seq
MIRT1190544	hsa-miR-3180-5p	CLIP-seq
MIRT2055170	hsa-miR-3187-3p	CLIP-seq
MIRT1190545	hsa-miR-335	CLIP-seq
MIRT2284118	hsa-miR-3617	CLIP-seq
MIRT2055171	hsa-miR-3619-5p	CLIP-seq
MIRT2284119	hsa-miR-3670	CLIP-seq
MIRT1190548	hsa-miR-3934	CLIP-seq
MIRT2055172	hsa-miR-4291	CLIP-seq
MIRT2284120	hsa-miR-4311	CLIP-seq
MIRT2284121	hsa-miR-4328	CLIP-seq
MIRT2055173	hsa-miR-4435	CLIP-seq
MIRT2284122	hsa-miR-4691-3p	CLIP-seq
MIRT2055174	hsa-miR-4701-5p	CLIP-seq
MIRT2055175	hsa-miR-4771	CLIP-seq
MIRT2284123	hsa-miR-501-3p	CLIP-seq
MIRT2284124	hsa-miR-502-3p	CLIP-seq
MIRT1190554	hsa-miR-513a-3p	CLIP-seq
MIRT2055176	hsa-miR-548s	CLIP-seq
MIRT1190561	hsa-miR-583	CLIP-seq
MIRT2055177	hsa-miR-588	CLIP-seq
MIRT2284125	hsa-miR-589	CLIP-seq
MIRT2284126	hsa-miR-641	CLIP-seq
MIRT2055178	hsa-miR-761	CLIP-seq
MIRT2055179	hsa-miR-922	CLIP-seq
MIRT2284116	hsa-miR-1203	CLIP-seq
MIRT2582200	hsa-miR-146a	CLIP-seq
MIRT2582201	hsa-miR-146b-5p	CLIP-seq
MIRT2582202	hsa-miR-1827	CLIP-seq
MIRT2055169	hsa-miR-214	CLIP-seq
MIRT2582203	hsa-miR-221	CLIP-seq
MIRT2582204	hsa-miR-222	CLIP-seq
MIRT1190544	hsa-miR-3180-5p	CLIP-seq
MIRT2055170	hsa-miR-3187-3p	CLIP-seq
MIRT1190545	hsa-miR-335	CLIP-seq
MIRT2284118	hsa-miR-3617	CLIP-seq
MIRT2055171	hsa-miR-3619-5p	CLIP-seq
MIRT2582205	hsa-miR-3663-3p	CLIP-seq
MIRT2284119	hsa-miR-3670	CLIP-seq
MIRT1190548	hsa-miR-3934	CLIP-seq
MIRT1190549	hsa-miR-409-3p	CLIP-seq
MIRT2582206	hsa-miR-4251	CLIP-seq
MIRT1190550	hsa-miR-4272	CLIP-seq
MIRT2055172	hsa-miR-4291	CLIP-seq
MIRT2284120	hsa-miR-4311	CLIP-seq
MIRT2284121	hsa-miR-4328	CLIP-seq
MIRT2055173	hsa-miR-4435	CLIP-seq
MIRT2284122	hsa-miR-4691-3p	CLIP-seq
MIRT2055174	hsa-miR-4701-5p	CLIP-seq
MIRT1190552	hsa-miR-4717-5p	CLIP-seq
MIRT2055175	hsa-miR-4771	CLIP-seq
MIRT2582207	hsa-miR-4797-5p	CLIP-seq
MIRT2284123	hsa-miR-501-3p	CLIP-seq
MIRT2284124	hsa-miR-502-3p	CLIP-seq
MIRT1190554	hsa-miR-513a-3p	CLIP-seq
MIRT2582208	hsa-miR-544	CLIP-seq
MIRT2055176	hsa-miR-548s	CLIP-seq
MIRT2582209	hsa-miR-548v	CLIP-seq
MIRT1190560	hsa-miR-569	CLIP-seq
MIRT1190561	hsa-miR-583	CLIP-seq
MIRT2055177	hsa-miR-588	CLIP-seq
MIRT2284125	hsa-miR-589	CLIP-seq
MIRT2284126	hsa-miR-641	CLIP-seq
MIRT2055178	hsa-miR-761	CLIP-seq
MIRT2055179	hsa-miR-922	CLIP-seq
MIRT2582210	hsa-miR-95	CLIP-seq
MIRT2284116	hsa-miR-1203	CLIP-seq
MIRT2686452	hsa-miR-1243	CLIP-seq
MIRT2686453	hsa-miR-1270	CLIP-seq
MIRT2582200	hsa-miR-146a	CLIP-seq
MIRT2582201	hsa-miR-146b-5p	CLIP-seq
MIRT2582202	hsa-miR-1827	CLIP-seq
MIRT2686454	hsa-miR-185	CLIP-seq
MIRT1190538	hsa-miR-2053	CLIP-seq
MIRT2055169	hsa-miR-214	CLIP-seq
MIRT2582203	hsa-miR-221	CLIP-seq
MIRT2582204	hsa-miR-222	CLIP-seq
MIRT2686455	hsa-miR-224	CLIP-seq
MIRT1190544	hsa-miR-3180-5p	CLIP-seq
MIRT2055170	hsa-miR-3187-3p	CLIP-seq
MIRT1190545	hsa-miR-335	CLIP-seq
MIRT2686456	hsa-miR-34b	CLIP-seq
MIRT2284118	hsa-miR-3617	CLIP-seq
MIRT2055171	hsa-miR-3619-5p	CLIP-seq
MIRT2582205	hsa-miR-3663-3p	CLIP-seq
MIRT2284119	hsa-miR-3670	CLIP-seq
MIRT1190548	hsa-miR-3934	CLIP-seq
MIRT1190549	hsa-miR-409-3p	CLIP-seq
MIRT2582206	hsa-miR-4251	CLIP-seq
MIRT1190550	hsa-miR-4272	CLIP-seq
MIRT2055172	hsa-miR-4291	CLIP-seq
MIRT2686457	hsa-miR-4306	CLIP-seq
MIRT2284120	hsa-miR-4311	CLIP-seq
MIRT2284121	hsa-miR-4328	CLIP-seq
MIRT2055173	hsa-miR-4435	CLIP-seq
MIRT2686458	hsa-miR-4531	CLIP-seq
MIRT2686459	hsa-miR-4644	CLIP-seq
MIRT2284122	hsa-miR-4691-3p	CLIP-seq
MIRT2055174	hsa-miR-4701-5p	CLIP-seq
MIRT1190552	hsa-miR-4717-5p	CLIP-seq
MIRT2055175	hsa-miR-4771	CLIP-seq
MIRT2582207	hsa-miR-4797-5p	CLIP-seq
MIRT2284123	hsa-miR-501-3p	CLIP-seq
MIRT2284124	hsa-miR-502-3p	CLIP-seq
MIRT1190554	hsa-miR-513a-3p	CLIP-seq
MIRT2582208	hsa-miR-544	CLIP-seq
MIRT2055176	hsa-miR-548s	CLIP-seq
MIRT2582209	hsa-miR-548v	CLIP-seq
MIRT1190560	hsa-miR-569	CLIP-seq
MIRT1190561	hsa-miR-583	CLIP-seq
MIRT2055177	hsa-miR-588	CLIP-seq
MIRT2284125	hsa-miR-589	CLIP-seq
MIRT2686460	hsa-miR-620	CLIP-seq
MIRT2284126	hsa-miR-641	CLIP-seq
MIRT2055178	hsa-miR-761	CLIP-seq
MIRT2055179	hsa-miR-922	CLIP-seq
MIRT2582210	hsa-miR-95	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19664597, 20674861, 22095670, 27238017, 27940359
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IMP	15937921
GO:0005764	Component	Lysosome	IDA	25339683
GO:0005764	Component	Lysosome	IDA	11125141, 15937921
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0009615	Process	Response to virus	IEP	16548883
GO:0010467	Process	Gene expression	IEA
GO:0010878	Process	Cholesterol storage	IEA
GO:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	17018531, 18772377, 27238017
GO:0015485	Function	Cholesterol binding	IEA
GO:0015914	Process	Phospholipid transport	TAS	17018531
GO:0015918	Process	Sterol transport	IEA
GO:0015918	Process	Sterol transport	IEA
GO:0016125	Process	Sterol metabolic process	IEA
GO:0019747	Process	Regulation of isoprenoid metabolic process	TAS	15110773
GO:0019899	Function	Enzyme binding	IPI	15110773
GO:0030301	Process	Cholesterol transport	IDA	17018531, 18772377
GO:0030301	Process	Cholesterol transport	IEA
GO:0032366	Process	Intracellular sterol transport	IDA	17018531
GO:0032367	Process	Intracellular cholesterol transport	IBA
GO:0032367	Process	Intracellular cholesterol transport	IDA	17018531, 18823126
GO:0032367	Process	Intracellular cholesterol transport	IEA
GO:0032367	Process	Intracellular cholesterol transport	IGI	19723497
GO:0032367	Process	Intracellular cholesterol transport	IMP	15937921, 27238017
GO:0032934	Function	Sterol binding	IEA
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IDA	16141411, 25339683
GO:0033344	Process	Cholesterol efflux	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042632	Process	Cholesterol homeostasis	IDA	12719428
GO:0042632	Process	Cholesterol homeostasis	IMP	15937921
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046836	Process	Glycolipid transport	TAS	17018531
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0120020	Function	Cholesterol transfer activity	IDA	18772377, 25339683, 27238017

MIM	HGNC	e!Ensembl
601015	14537	ENSG00000119655

P61916

Protein name

NPC intracellular cholesterol transporter 2 (Epididymal secretory protein E1) (Human epididymis-specific protein 1) (He1) (Niemann-Pick disease type C2 protein)

Protein function

Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:11125141, PubMed:15937921, PubMed:17018531, PubMed:18772377, PubMed:29580834).

PDB

5KWY , 6W5V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02221	E1_DerP2_DerF2	21 → 147	ML domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in gallbladder bile (PubMed:21315718). Detected in fibroblasts, kidney, liver, spleen, small intestine, placenta and testis (at protein level) (PubMed:11125141). Epididymis. {ECO:0000269|PubMed:11125141, ECO:0000269|PubMed:196

Sequence

MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVT
FTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYP
SIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL

Sequence length

151

Interactions

View interactions

	KEGG		Reactome
	Lysosome Cholesterol metabolism		Neutrophil degranulation LDL clearance

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Niemann-Pick disease, type C	Likely pathogenic; Pathogenic	rs1376058648, rs483352893, rs80358260, rs80358266, rs104894457, rs104894458, rs80358262, rs80358264	RCV003120598 RCV003330496 RCV000586093 RCV001193596 RCV002468967 RCV005406732 RCV001193595 RCV003398552 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick disease, type C1	Likely pathogenic; Pathogenic	rs104894458	RCV001528117	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Niemann-Pick disease, type C2	Likely pathogenic; Pathogenic	rs1376058648, rs2086687936, rs483352893, rs2139668010, rs2139670174, rs2086712268, rs2506104570, rs2506104379, rs2506115412, rs2506107075, rs2506107168, rs2506104627, rs2506107182, rs2506107370, rs1555346368 View all (32 more)	RCV001388699 RCV001806310 RCV000119339 RCV001953743 RCV001970052 View all (47 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2086686955	RCV005931257	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
BRAIN ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE C, ADULT NEUROLOGIC ONSET	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE C, JUVENILE NEUROLOGIC ONSET	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE C, LATE INFANTILE NEUROLOGIC ONSET	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE C, SEVERE EARLY INFANTILE NEUROLOGIC ONSET	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE C, SEVERE PERINATAL FORM	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NPC2-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (89)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	17387528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21084287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36226239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20030805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24147030	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24147030	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	20030805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24147030	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	24147030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Citrullinemia	Citrullinemia	Pubtator	40003936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23203071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29096354	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24147030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	39614436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27549128, 27792009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	27549128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20650896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis Hereditary	Hereditary elliptocytosis	Pubtator	32807033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29522534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fetal ascites	Fetal ascites	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	24386122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	39690926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	29847670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gross motor development delay	Developmental delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	27549128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	27549128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	29522534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	12447927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoid Proteinosis of Urbach and Wiethe	Lipoid Proteinosis	BEFREE	18668002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	BEFREE	17003072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25754535, 29483961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24147030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	24147030, 29874879	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	29878847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	11567215, 33938663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	24664998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34685683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24147030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24147030, 25754535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	12399439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24147030		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	14726712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	20650896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27402802, 35159316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11525744, 12125814, 15465426, 17631520, 21084287, 22286891, 24386122, 24664998, 26771826, 26869201, 28082351, 30181526, 30209687, 31843136		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23773996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32880929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17804599, 27940359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick disease type C, adult neurologic onset	Niemann-Pick Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick disease type C, juvenile neurologic onset	Niemann-Pick Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick disease type C, late infantile neurologic onset	Niemann-Pick Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick disease type C, severe early infantile neurologic onset	Niemann-Pick Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick disease type C, severe perinatal form	Niemann-Pick Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick Disease, Type C	Niemann-Pick Disease	CLINVAR_DG	11125141, 11567215, 12955717, 17470133, 23433426, 25236789		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	11525744, 11567215, 12125814, 12398991, 12554680, 15465426, 15465429, 15542393, 15937921, 16126423, 16278452, 17003072, 17470133, 17631520, 18823126 View all (36 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	18668002, 28860124		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NIEMANN-PICK DISEASE, TYPE C2	Niemann-Pick Disease	BEFREE	10924274, 12591954, 14726712, 20002450, 20393800, 22073306, 23791309, 29928259		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NIEMANN-PICK DISEASE, TYPE C2	Niemann-Pick Disease	UNIPROT_DG	11125141, 11567215, 12447927, 12955717, 15937921, 16126423, 18772377		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NIEMANN-PICK DISEASE, TYPE C2	Niemann-Pick Disease	CLINVAR_DG	11125141, 11333381, 11567215, 12955717, 15937921, 16126423, 16757520, 17470133, 21084287, 22073306, 23433426, 25038260, 25772320, 28105569		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NIEMANN-PICK DISEASE, TYPE C2	Niemann-Pick Disease	GENOMICS_ENGLAND_DG	11567215, 12955717, 17470133, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NIEMANN-PICK DISEASE, TYPE C2	Niemann-Pick Disease	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Diseases	Sphingomyelinase deficiency	BEFREE	23622394		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12399439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24386122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27792009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	24386122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	20002450, 26024245, 28095804, 31002528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Pulmonary alveolar proteinosis	Pubtator	39789920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	39690926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24147030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21084287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sandhoff Disease	Sandhoff Disease	BEFREE	17468177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sea-Blue Histiocyte Syndrome	Sea-Blue Histiocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38001127, 38025711	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	32286426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	31707734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	12399439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36933059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vertical supranuclear gaze palsy	Supranuclear gaze palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NPC2 (NPC intracellular cholesterol transporter 2)