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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	27032
Gene name	ATPase secretory pathway Ca2+ transporting 1
Gene symbol	ATP2C1
Synonyms (NCBI Gene)	ATP2C1ABCPMHHDPMR1SPCA1hSPCA1
Chromosome	3
Chromosome location	3q22.1
Summary	The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an aut

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853012	G>A	Pathogenic	Missense variant, coding sequence variant
rs137853013	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs137853014	G>T	Pathogenic	Missense variant, coding sequence variant
rs137853015	T>C	Pathogenic	Missense variant, coding sequence variant
rs776982434	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, genic upstream transcript variant
rs963144528	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1048609704	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517706	TTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518594	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1057520634	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131691355	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs1553767857	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1553775581	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559971447	->CCTC	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1559982055	G>A	Pathogenic	Splice acceptor variant
rs1560033613	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576976863	GT>-	Pathogenic	Frameshift variant, coding sequence variant

153

Show/Hide all (153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040808	hsa-miR-18a-3p	CLASH	23622248
MIRT807876	hsa-miR-3120-3p	CLIP-seq
MIRT807877	hsa-miR-3910	CLIP-seq
MIRT807878	hsa-miR-4708-3p	CLIP-seq
MIRT807879	hsa-miR-4729	CLIP-seq
MIRT807880	hsa-miR-4786-3p	CLIP-seq
MIRT807881	hsa-miR-4789-5p	CLIP-seq
MIRT807882	hsa-miR-1914	CLIP-seq
MIRT807883	hsa-miR-3545-5p	CLIP-seq
MIRT807884	hsa-miR-3660	CLIP-seq
MIRT807885	hsa-miR-4526	CLIP-seq
MIRT807886	hsa-miR-4645-3p	CLIP-seq
MIRT807887	hsa-miR-4793-5p	CLIP-seq
MIRT807888	hsa-miR-186	CLIP-seq
MIRT807889	hsa-miR-3664-5p	CLIP-seq
MIRT807890	hsa-miR-3692	CLIP-seq
MIRT807891	hsa-miR-451b	CLIP-seq
MIRT807892	hsa-miR-4696	CLIP-seq
MIRT807893	hsa-miR-4714-5p	CLIP-seq
MIRT807894	hsa-miR-545	CLIP-seq
MIRT807895	hsa-miR-634	CLIP-seq
MIRT807896	hsa-miR-101	CLIP-seq
MIRT807897	hsa-miR-144	CLIP-seq
MIRT807898	hsa-miR-183	CLIP-seq
MIRT807899	hsa-miR-330-3p	CLIP-seq
MIRT807900	hsa-miR-4323	CLIP-seq
MIRT807901	hsa-miR-4758-3p	CLIP-seq
MIRT807902	hsa-miR-4797-3p	CLIP-seq
MIRT807903	hsa-miR-517b	CLIP-seq
MIRT807904	hsa-miR-548p	CLIP-seq
MIRT807905	hsa-miR-802	CLIP-seq
MIRT1938625	hsa-miR-4799-5p	CLIP-seq
MIRT1938626	hsa-miR-1343	CLIP-seq
MIRT1938627	hsa-miR-203	CLIP-seq
MIRT1938628	hsa-miR-3662	CLIP-seq
MIRT1938629	hsa-miR-4646-5p	CLIP-seq
MIRT1938630	hsa-miR-4705	CLIP-seq
MIRT1938631	hsa-miR-4719	CLIP-seq
MIRT1938632	hsa-miR-483-3p	CLIP-seq
MIRT1938633	hsa-miR-513a-3p	CLIP-seq
MIRT1938634	hsa-miR-532-5p	CLIP-seq
MIRT1938635	hsa-miR-561	CLIP-seq
MIRT1938625	hsa-miR-4799-5p	CLIP-seq
MIRT2177870	hsa-miR-3122	CLIP-seq
MIRT2177871	hsa-miR-3913-5p	CLIP-seq
MIRT1938626	hsa-miR-1343	CLIP-seq
MIRT1938629	hsa-miR-4646-5p	CLIP-seq
MIRT1938625	hsa-miR-4799-5p	CLIP-seq
MIRT1938632	hsa-miR-483-3p	CLIP-seq
MIRT2481231	hsa-miR-1202	CLIP-seq
MIRT2481232	hsa-miR-1206	CLIP-seq
MIRT2481233	hsa-miR-1264	CLIP-seq
MIRT1938626	hsa-miR-1343	CLIP-seq
MIRT807888	hsa-miR-186	CLIP-seq
MIRT807882	hsa-miR-1914	CLIP-seq
MIRT2481234	hsa-miR-19a	CLIP-seq
MIRT2481235	hsa-miR-19b	CLIP-seq
MIRT1938627	hsa-miR-203	CLIP-seq
MIRT2481236	hsa-miR-214	CLIP-seq
MIRT2481237	hsa-miR-3121-3p	CLIP-seq
MIRT2481238	hsa-miR-3143	CLIP-seq
MIRT2481239	hsa-miR-3157-3p	CLIP-seq
MIRT2481240	hsa-miR-3157-5p	CLIP-seq
MIRT2481241	hsa-miR-3160-3p	CLIP-seq
MIRT2481242	hsa-miR-3194-5p	CLIP-seq
MIRT2481243	hsa-miR-3200-5p	CLIP-seq
MIRT2481244	hsa-miR-323-3p	CLIP-seq
MIRT2481245	hsa-miR-3545-3p	CLIP-seq
MIRT807883	hsa-miR-3545-5p	CLIP-seq
MIRT2481246	hsa-miR-3613-3p	CLIP-seq
MIRT2481247	hsa-miR-3619-5p	CLIP-seq
MIRT1938628	hsa-miR-3662	CLIP-seq
MIRT2481248	hsa-miR-371-5p	CLIP-seq
MIRT2481249	hsa-miR-371b-5p	CLIP-seq
MIRT2481250	hsa-miR-3926	CLIP-seq
MIRT2481251	hsa-miR-3972	CLIP-seq
MIRT2481252	hsa-miR-409-3p	CLIP-seq
MIRT2481253	hsa-miR-4303	CLIP-seq
MIRT807900	hsa-miR-4323	CLIP-seq
MIRT2481254	hsa-miR-4487	CLIP-seq
MIRT2481255	hsa-miR-4530	CLIP-seq
MIRT2481256	hsa-miR-4635	CLIP-seq
MIRT807886	hsa-miR-4645-3p	CLIP-seq
MIRT1938629	hsa-miR-4646-5p	CLIP-seq
MIRT2481257	hsa-miR-4668-3p	CLIP-seq
MIRT2481258	hsa-miR-4717-3p	CLIP-seq
MIRT2481259	hsa-miR-4717-5p	CLIP-seq
MIRT807901	hsa-miR-4758-3p	CLIP-seq
MIRT2481260	hsa-miR-4762-5p	CLIP-seq
MIRT807887	hsa-miR-4793-5p	CLIP-seq
MIRT807902	hsa-miR-4797-3p	CLIP-seq
MIRT1938625	hsa-miR-4799-5p	CLIP-seq
MIRT1938632	hsa-miR-483-3p	CLIP-seq
MIRT1938633	hsa-miR-513a-3p	CLIP-seq
MIRT2481261	hsa-miR-513c	CLIP-seq
MIRT2481262	hsa-miR-514b-5p	CLIP-seq
MIRT1938634	hsa-miR-532-5p	CLIP-seq
MIRT2481263	hsa-miR-543	CLIP-seq
MIRT2481264	hsa-miR-548ae	CLIP-seq
MIRT2481265	hsa-miR-548aj	CLIP-seq
MIRT2481266	hsa-miR-548am	CLIP-seq
MIRT2481267	hsa-miR-548x	CLIP-seq
MIRT2481268	hsa-miR-558	CLIP-seq
MIRT2481269	hsa-miR-562	CLIP-seq
MIRT2481270	hsa-miR-579	CLIP-seq
MIRT2481271	hsa-miR-599	CLIP-seq
MIRT2481272	hsa-miR-645	CLIP-seq
MIRT2481273	hsa-miR-657	CLIP-seq
MIRT2481274	hsa-miR-761	CLIP-seq
MIRT807905	hsa-miR-802	CLIP-seq
MIRT2481275	hsa-miR-874	CLIP-seq
MIRT2481276	hsa-miR-888	CLIP-seq
MIRT2481277	hsa-miR-938	CLIP-seq
MIRT1938625	hsa-miR-4799-5p	CLIP-seq
MIRT1938626	hsa-miR-1343	CLIP-seq
MIRT807888	hsa-miR-186	CLIP-seq
MIRT807882	hsa-miR-1914	CLIP-seq
MIRT2481234	hsa-miR-19a	CLIP-seq
MIRT2481235	hsa-miR-19b	CLIP-seq
MIRT1938627	hsa-miR-203	CLIP-seq
MIRT2481237	hsa-miR-3121-3p	CLIP-seq
MIRT2675694	hsa-miR-3145-3p	CLIP-seq
MIRT2481241	hsa-miR-3160-3p	CLIP-seq
MIRT2481243	hsa-miR-3200-5p	CLIP-seq
MIRT2481244	hsa-miR-323-3p	CLIP-seq
MIRT807883	hsa-miR-3545-5p	CLIP-seq
MIRT2481246	hsa-miR-3613-3p	CLIP-seq
MIRT1938628	hsa-miR-3662	CLIP-seq
MIRT2481250	hsa-miR-3926	CLIP-seq
MIRT2481253	hsa-miR-4303	CLIP-seq
MIRT2675695	hsa-miR-4446-5p	CLIP-seq
MIRT2481254	hsa-miR-4487	CLIP-seq
MIRT807886	hsa-miR-4645-3p	CLIP-seq
MIRT1938629	hsa-miR-4646-5p	CLIP-seq
MIRT2481257	hsa-miR-4668-3p	CLIP-seq
MIRT2481258	hsa-miR-4717-3p	CLIP-seq
MIRT2481259	hsa-miR-4717-5p	CLIP-seq
MIRT2675696	hsa-miR-4755-5p	CLIP-seq
MIRT807887	hsa-miR-4793-5p	CLIP-seq
MIRT807902	hsa-miR-4797-3p	CLIP-seq
MIRT1938625	hsa-miR-4799-5p	CLIP-seq
MIRT1938632	hsa-miR-483-3p	CLIP-seq
MIRT1938633	hsa-miR-513a-3p	CLIP-seq
MIRT1938634	hsa-miR-532-5p	CLIP-seq
MIRT2481264	hsa-miR-548ae	CLIP-seq
MIRT2481265	hsa-miR-548aj	CLIP-seq
MIRT2481266	hsa-miR-548am	CLIP-seq
MIRT2481267	hsa-miR-548x	CLIP-seq
MIRT2481268	hsa-miR-558	CLIP-seq
MIRT2481271	hsa-miR-599	CLIP-seq
MIRT2481272	hsa-miR-645	CLIP-seq
MIRT807905	hsa-miR-802	CLIP-seq
MIRT2481276	hsa-miR-888	CLIP-seq

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Transcription factor	Regulation	Reference
SP1	Activation	15955096
YY1	Activation	15955096

Show/Hide all (57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	12804581, 21187401
GO:0000139	Component	Golgi membrane	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0005388	Function	P-type calcium transporter activity	IBA
GO:0005388	Function	P-type calcium transporter activity	IDA	16192278
GO:0005388	Function	P-type calcium transporter activity	IDA	12707275, 12810057, 16192278
GO:0005388	Function	P-type calcium transporter activity	IEA
GO:0005388	Function	P-type calcium transporter activity	IMP	10615129
GO:0005509	Function	Calcium ion binding	IDA	12707275, 16192278
GO:0005524	Function	ATP binding	IDA	12707275, 16192278
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005794	Component	Golgi apparatus	IDA	11741891, 12707275
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	14632183
GO:0005886	Component	Plasma membrane	IBA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IDA	12707275, 12810057, 16192278
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IMP	10615129
GO:0006828	Process	Manganese ion transport	IBA
GO:0006828	Process	Manganese ion transport	IDA	12707275
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	12707275, 12810057
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IMP	10615129
GO:0008544	Process	Epidermis development	IMP	10615129
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10615129
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IMP	14632182
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030026	Process	Intracellular manganese ion homeostasis	IDA	12707275
GO:0030036	Process	Actin cytoskeleton organization	IMP	14632182
GO:0030145	Function	Manganese ion binding	IDA	12707275
GO:0032468	Process	Golgi calcium ion homeostasis	IEA
GO:0032468	Process	Golgi calcium ion homeostasis	IMP	14632183, 20439740
GO:0032468	Process	Golgi calcium ion homeostasis	ISS
GO:0032472	Process	Golgi calcium ion transport	IMP	14632183
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0032580	Component	Golgi cisterna membrane	ISS
GO:0033106	Component	Cis-Golgi network membrane	IEA
GO:0033106	Component	Cis-Golgi network membrane	ISS
GO:0042998	Process	Positive regulation of Golgi to plasma membrane protein transport	IEA
GO:0042998	Process	Positive regulation of Golgi to plasma membrane protein transport	IMP	20439740
GO:0042998	Process	Positive regulation of Golgi to plasma membrane protein transport	ISS
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0046872	Function	Metal ion binding	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IBA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071421	Process	Manganese ion transmembrane transport	IEA
GO:0098629	Process	Trans-Golgi network membrane organization	IMP	20439740
GO:0140613	Function	P-type manganese transporter activity	IDA	21187401
GO:0140613	Function	P-type manganese transporter activity	IEA

MIM	HGNC	e!Ensembl
604384	13211	ENSG00000017260

P98194

Protein name

Calcium-transporting ATPase type 2C member 1 (ATPase 2C1) (EC 7.2.2.10) (ATP-dependent Ca(2+) pump PMR1) (Ca(2+)/Mn(2+)-ATPase 2C1) (Secretory pathway Ca(2+)-transporting ATPase type 1) (SPCA1)

Protein function

ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway (PubMed:12707275, PubMed:16192278, PubMed:20439740, Pub

PDB

7YAG , 7YAH , 7YAI , 7YAJ , 7YAM , 8IWP , 8IWR , 8IWS , 8IWT , 8IWU , 8IWW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00690	Cation_ATPase_N	26 → 94	Cation transporter/ATPase, N-terminus	Domain
PF00122	E1-E2_ATPase	133 → 328		Family
PF00702	Hydrolase	344 → 656		Domain
PF00689	Cation_ATPase_C	726 → 898	Cation transporting ATPase, C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Found in most tissues except colon, thymus, spleen and leukocytes (PubMed:15831496). Expressed in keratinocytes (at protein level) (PubMed:14632183, PubMed:15831496). {ECO:0000269|PubMed:14632183, ECO:0000269|PubMed:15831496}.

Sequence

MKVARFQKIPNGENETMIPVLTSKKASELPVSEVASILQADLQNGLNKCEVSHRRAFHGW
NEFDISEDEPLWKKYISQFKNPLIMLLLASAVISVLMHQFDDAVSITVAILIVVTVAFVQ
EYRSEKSLEELSKLVPPECHCVREGKLEHTLARDLVPGDTVCLSVGDRVPADLRLFEAVD
LSIDESSLTGETTPCSKVTAPQPAATNGDLASRSNIAFMGTLVRCGKAKGVVIGTGENSE
FGEVFKMMQAEEAPKTPLQKSMDLLGKQLSFYSFGIIGIIMLVGWLLGKDILEMFTISVS
LAVAAIPEGLPIVVTVTLALGVMRMVKKRAIVKKLPIVETLGCCNVICSDKTGTLTKNEM
TVTHIFTSDGLHAEVTGVGYNQFGEVIVDGDVVHGFYNPAVSRIVEAGCVCNDAVIRNNT
LMGKPTEGALIALAMKMGLDGLQQDYIRKAEYPFSSEQKWMAVKCVHRTQQDRPEICFMK
GAYEQVIKYCTTYQSKGQTLTLTQQQRDVYQQEKARMGSAGLRVLALASGPELGQLTFLG
LVGIIDPPRTGVKEAVTTLIASGVSIKMITGDSQETAVAIASRLGLYSKTSQSVSGEEID
AMDVQQLSQIVPKVAVFYRASPRHKMKIIKSLQKNGSVVAMTGDGVNDAVALKAADIGVA
MGQTGTDVCKEAADMILVDDDFQTIMSAIEEGKGIYNNIKNFVRFQLSTSIAALTLISLA
TLMNFPNPLNAMQILWINIIMDGPPAQSLGVEPVDKDVIRKPPRNWKDSILTKNLILKIL
VSSIIIVCGTLFVFWRELRDNVITPRDTTMTFTCFVFFDMFNALSSRSQTKSVFEIGLCS
NRMFCYAVLGSIMGQLLVIYFPPLQKVFQTESLSILDLLFLLGLTSSVCIVAEIIKKVER
SREKIQKHVSSTSSSFLEV

Sequence length

919

Interactions

View interactions

	Reactome
			Ion transport by P-type ATPases

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial benign pemphigus	Pathogenic; Likely pathogenic	rs1559982055, rs2531541423, rs2531541261, rs997949050, rs1559971447, rs137853012, rs137853013, rs137853014, rs1560033613, rs137853015, rs748204512, rs2531133399, rs1057517706	RCV001845026 RCV002510485 RCV002510486 RCV002510487 RCV000005923 View all (9 more)	★★★★★ ★★★★★ 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.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATP2C1-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISORDER OF MUSCULOSKELETAL SYSTEM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEMPHIGUS, BENIGN FAMILIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (45)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	24817928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21909646, 22420951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12189239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20837466, 31783287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	28618103	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22088532, 25661383, 25820822, 26151241, 28487954, 30720176, 31081094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18618715	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	33926923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18071348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Darier Disease	Darier disease	Pubtator	11886536, 18060195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	15888147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	12707275, 12763865, 15191544, 15336968, 15888147, 17140658, 17597066, 27528123, 29555205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26608610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21346176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21346176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	38014829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	38014829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17376821, 19966211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign chronic pemphigus	Benign Pemphigus	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	10615129, 10767338, 11741891, 11841554, 11886536, 11966689, 12707275, 12763865, 14510977, 14632183, 15149492, 15191544, 15308463, 15336968, 15468148 View all (48 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial benign pemphigus	Benign Pemphigus	ORPHANET_DG	10615129		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial benign pemphigus	Benign Pemphigus	UNIPROT_DG	10615129, 10767338, 11841554, 11874499, 28035777		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial benign pemphigus	Benign Pemphigus	CTD_human_DG	11450592, 16621454, 20338123		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial benign pemphigus	Benign Pemphigus	LHGDN	11841554, 11966689, 14632183, 15336968, 15545997, 15955096, 16297192, 16540292, 16644186, 17503064, 18205868, 18211433, 18259764, 18372165		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial benign pemphigus	Benign Pemphigus	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30214443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	39241028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis	Hypermanganesemia with Dystonia Polycythemia and Cirrhosis	BEFREE	28692648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	BEFREE	10767338, 15149492, 15840101, 15888147, 16467572, 18060195, 25256005, 28035777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	30535487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28487954, 34761591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22088532, 25661383, 25820822, 26151241, 28487954, 30720176, 31081094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17597066, 30477473		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17634957, 20130242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	LHGDN	16644186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10540322, 12189239, 17597066, 18820911, 20130242, 30272338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24817928, 28392366, 29362431, 30070323, 30272338, 30720174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23154387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	23505434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus Benign Familial	Benign familial pemphigus	Pubtator	11886536, 15677451, 18060195, 25837627, 31605620, 38014829, 39241028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	30692201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	22788811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18618715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ATP2C1 (ATPase secretory pathway Ca2+ transporting 1)