ATP11C (ATPase phospholipid transporting 11C (ATP11C blood group))

Gene

• Entrez ID: 286410
• Gene name: ATPase phospholipid transporting 11C (ATP11C blood group)
• Gene symbol: ATP11C
• Synonyms (NCBI Gene): ATPIG, ATPIQ, HACXL
• Chromosome: X
• Chromosome location: Xq27.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1556323334	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003182	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT003182	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT003182	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT021452	hsa-miR-9-5p	Microarray	17612493
MIRT039505	hsa-miR-652-3p	CLASH	23622248
MIRT559391	hsa-miR-487a-3p	PAR-CLIP	21572407
MIRT559390	hsa-miR-154-3p	PAR-CLIP	21572407
MIRT559389	hsa-miR-3929	PAR-CLIP	21572407
MIRT559388	hsa-miR-4419b	PAR-CLIP	21572407
MIRT559387	hsa-miR-4478	PAR-CLIP	21572407
MIRT559386	hsa-miR-3074-3p	PAR-CLIP	21572407
MIRT559385	hsa-miR-4705	PAR-CLIP	21572407
MIRT559384	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT559383	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT559391	hsa-miR-487a-3p	PAR-CLIP	21572407
MIRT559390	hsa-miR-154-3p	PAR-CLIP	21572407
MIRT559389	hsa-miR-3929	PAR-CLIP	21572407
MIRT559388	hsa-miR-4419b	PAR-CLIP	21572407
MIRT559387	hsa-miR-4478	PAR-CLIP	21572407
MIRT559386	hsa-miR-3074-3p	PAR-CLIP	21572407
MIRT559385	hsa-miR-4705	PAR-CLIP	21572407
MIRT559384	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT559383	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT806552	hsa-miR-1303	CLIP-seq
MIRT806553	hsa-miR-194	CLIP-seq
MIRT806554	hsa-miR-200b	CLIP-seq
MIRT806555	hsa-miR-200c	CLIP-seq
MIRT806556	hsa-miR-223	CLIP-seq
MIRT806557	hsa-miR-299-5p	CLIP-seq
MIRT806558	hsa-miR-3123	CLIP-seq
MIRT806559	hsa-miR-3145-5p	CLIP-seq
MIRT806560	hsa-miR-323b-3p	CLIP-seq
MIRT806561	hsa-miR-338-5p	CLIP-seq
MIRT806562	hsa-miR-339-5p	CLIP-seq
MIRT806563	hsa-miR-3613-3p	CLIP-seq
MIRT806564	hsa-miR-3684	CLIP-seq
MIRT806565	hsa-miR-3691-3p	CLIP-seq
MIRT806566	hsa-miR-369-3p	CLIP-seq
MIRT806567	hsa-miR-371b-5p	CLIP-seq
MIRT806568	hsa-miR-374a	CLIP-seq
MIRT806569	hsa-miR-374b	CLIP-seq
MIRT806570	hsa-miR-374c	CLIP-seq
MIRT806571	hsa-miR-3974	CLIP-seq
MIRT806572	hsa-miR-4266	CLIP-seq
MIRT806573	hsa-miR-429	CLIP-seq
MIRT806574	hsa-miR-4426	CLIP-seq
MIRT806575	hsa-miR-4446-5p	CLIP-seq
MIRT806576	hsa-miR-4647	CLIP-seq
MIRT806577	hsa-miR-4662b	CLIP-seq
MIRT806578	hsa-miR-4666-5p	CLIP-seq
MIRT806579	hsa-miR-4695-5p	CLIP-seq
MIRT806580	hsa-miR-4698	CLIP-seq
MIRT806581	hsa-miR-4712-3p	CLIP-seq
MIRT806582	hsa-miR-4720-3p	CLIP-seq
MIRT806583	hsa-miR-4729	CLIP-seq
MIRT806584	hsa-miR-4755-5p	CLIP-seq
MIRT806585	hsa-miR-4761-5p	CLIP-seq
MIRT806586	hsa-miR-4764-3p	CLIP-seq
MIRT806587	hsa-miR-4779	CLIP-seq
MIRT806588	hsa-miR-4802-3p	CLIP-seq
MIRT806589	hsa-miR-4804-3p	CLIP-seq
MIRT806590	hsa-miR-495	CLIP-seq
MIRT806591	hsa-miR-579	CLIP-seq
MIRT806592	hsa-miR-651	CLIP-seq
MIRT806593	hsa-miR-655	CLIP-seq
MIRT806594	hsa-miR-670	CLIP-seq
MIRT806595	hsa-miR-935	CLIP-seq
MIRT806596	hsa-miR-1200	CLIP-seq
MIRT806597	hsa-miR-1273f	CLIP-seq
MIRT806598	hsa-miR-1297	CLIP-seq
MIRT806599	hsa-miR-140-5p	CLIP-seq
MIRT806600	hsa-miR-143	CLIP-seq
MIRT806554	hsa-miR-200b	CLIP-seq
MIRT806555	hsa-miR-200c	CLIP-seq
MIRT806601	hsa-miR-217	CLIP-seq
MIRT806602	hsa-miR-26a	CLIP-seq
MIRT806603	hsa-miR-26b	CLIP-seq
MIRT806604	hsa-miR-28-3p	CLIP-seq
MIRT806557	hsa-miR-299-5p	CLIP-seq
MIRT806605	hsa-miR-3148	CLIP-seq
MIRT806606	hsa-miR-3153	CLIP-seq
MIRT806607	hsa-miR-3183	CLIP-seq
MIRT806608	hsa-miR-3187-3p	CLIP-seq
MIRT806609	hsa-miR-3591-5p	CLIP-seq
MIRT806610	hsa-miR-3611	CLIP-seq
MIRT806611	hsa-miR-3646	CLIP-seq
MIRT806612	hsa-miR-3653	CLIP-seq
MIRT806613	hsa-miR-3658	CLIP-seq
MIRT806566	hsa-miR-369-3p	CLIP-seq
MIRT806614	hsa-miR-3924	CLIP-seq
MIRT806615	hsa-miR-3926	CLIP-seq
MIRT806573	hsa-miR-429	CLIP-seq
MIRT806616	hsa-miR-4305	CLIP-seq
MIRT806617	hsa-miR-4324	CLIP-seq
MIRT806618	hsa-miR-4418	CLIP-seq
MIRT806619	hsa-miR-4435	CLIP-seq
MIRT806620	hsa-miR-4465	CLIP-seq
MIRT806621	hsa-miR-4480	CLIP-seq
MIRT806622	hsa-miR-4668-5p	CLIP-seq
MIRT806623	hsa-miR-4680-5p	CLIP-seq
MIRT806624	hsa-miR-4684-5p	CLIP-seq
MIRT806625	hsa-miR-4693-3p	CLIP-seq
MIRT806626	hsa-miR-4701-5p	CLIP-seq
MIRT806627	hsa-miR-4708-5p	CLIP-seq
MIRT806581	hsa-miR-4712-3p	CLIP-seq
MIRT806628	hsa-miR-4723-3p	CLIP-seq
MIRT806629	hsa-miR-4770	CLIP-seq
MIRT806630	hsa-miR-509-3-5p	CLIP-seq
MIRT806631	hsa-miR-509-5p	CLIP-seq
MIRT806632	hsa-miR-544b	CLIP-seq
MIRT806633	hsa-miR-548s	CLIP-seq
MIRT806634	hsa-miR-588	CLIP-seq
MIRT806635	hsa-miR-618	CLIP-seq
MIRT806636	hsa-miR-648	CLIP-seq
MIRT806637	hsa-miR-890	CLIP-seq
MIRT806583	hsa-miR-4729	CLIP-seq
MIRT1938231	hsa-miR-135a	CLIP-seq
MIRT1938232	hsa-miR-135b	CLIP-seq
MIRT1938233	hsa-miR-186	CLIP-seq
MIRT806601	hsa-miR-217	CLIP-seq
MIRT1938234	hsa-miR-23a	CLIP-seq
MIRT1938235	hsa-miR-23b	CLIP-seq
MIRT1938236	hsa-miR-23c	CLIP-seq
MIRT1938237	hsa-miR-27a	CLIP-seq
MIRT1938238	hsa-miR-27b	CLIP-seq
MIRT1938239	hsa-miR-3120-3p	CLIP-seq
MIRT806608	hsa-miR-3187-3p	CLIP-seq
MIRT806561	hsa-miR-338-5p	CLIP-seq
MIRT806563	hsa-miR-3613-3p	CLIP-seq
MIRT1938240	hsa-miR-3617	CLIP-seq
MIRT1938241	hsa-miR-3667-3p	CLIP-seq
MIRT1938242	hsa-miR-3673	CLIP-seq
MIRT1938243	hsa-miR-3686	CLIP-seq
MIRT806566	hsa-miR-369-3p	CLIP-seq
MIRT806570	hsa-miR-374c	CLIP-seq
MIRT1938244	hsa-miR-380	CLIP-seq
MIRT806614	hsa-miR-3924	CLIP-seq
MIRT1938245	hsa-miR-3927	CLIP-seq
MIRT1938246	hsa-miR-4291	CLIP-seq
MIRT806618	hsa-miR-4418	CLIP-seq
MIRT806619	hsa-miR-4435	CLIP-seq
MIRT1938247	hsa-miR-4495	CLIP-seq
MIRT1938248	hsa-miR-4511	CLIP-seq
MIRT1938249	hsa-miR-4652-3p	CLIP-seq
MIRT806626	hsa-miR-4701-5p	CLIP-seq
MIRT1938250	hsa-miR-4719	CLIP-seq
MIRT806583	hsa-miR-4729	CLIP-seq
MIRT806585	hsa-miR-4761-5p	CLIP-seq
MIRT1938251	hsa-miR-4762-3p	CLIP-seq
MIRT806586	hsa-miR-4764-3p	CLIP-seq
MIRT1938252	hsa-miR-4795-3p	CLIP-seq
MIRT806630	hsa-miR-509-3-5p	CLIP-seq
MIRT806631	hsa-miR-509-5p	CLIP-seq
MIRT1938253	hsa-miR-515-5p	CLIP-seq
MIRT1938254	hsa-miR-548b-3p	CLIP-seq
MIRT806633	hsa-miR-548s	CLIP-seq
MIRT1938255	hsa-miR-570	CLIP-seq
MIRT806634	hsa-miR-588	CLIP-seq
MIRT1938256	hsa-miR-633	CLIP-seq
MIRT1938257	hsa-miR-641	CLIP-seq
MIRT806593	hsa-miR-655	CLIP-seq
MIRT1938258	hsa-miR-9	CLIP-seq
MIRT1938233	hsa-miR-186	CLIP-seq
MIRT2177622	hsa-miR-193a-3p	CLIP-seq
MIRT2177623	hsa-miR-193b	CLIP-seq
MIRT806561	hsa-miR-338-5p	CLIP-seq
MIRT1938242	hsa-miR-3673	CLIP-seq
MIRT2177624	hsa-miR-4686	CLIP-seq
MIRT1938250	hsa-miR-4719	CLIP-seq
MIRT2177625	hsa-miR-4742-3p	CLIP-seq
MIRT2177626	hsa-miR-548n	CLIP-seq
MIRT1938258	hsa-miR-9	CLIP-seq
MIRT2444355	hsa-miR-1231	CLIP-seq
MIRT2444356	hsa-miR-128	CLIP-seq
MIRT1938237	hsa-miR-27a	CLIP-seq
MIRT1938238	hsa-miR-27b	CLIP-seq
MIRT2444357	hsa-miR-3655	CLIP-seq
MIRT2444358	hsa-miR-4288	CLIP-seq
MIRT2177625	hsa-miR-4742-3p	CLIP-seq
MIRT2444359	hsa-miR-513a-5p	CLIP-seq
MIRT2444360	hsa-miR-630	CLIP-seq
MIRT2444361	hsa-miR-632	CLIP-seq
MIRT2444362	hsa-miR-760	CLIP-seq
MIRT806598	hsa-miR-1297	CLIP-seq
MIRT2481057	hsa-miR-149	CLIP-seq
MIRT806553	hsa-miR-194	CLIP-seq
MIRT806554	hsa-miR-200b	CLIP-seq
MIRT806555	hsa-miR-200c	CLIP-seq
MIRT806601	hsa-miR-217	CLIP-seq
MIRT806602	hsa-miR-26a	CLIP-seq
MIRT806603	hsa-miR-26b	CLIP-seq
MIRT2481058	hsa-miR-3064-5p	CLIP-seq
MIRT2481059	hsa-miR-3202	CLIP-seq
MIRT806563	hsa-miR-3613-3p	CLIP-seq
MIRT806611	hsa-miR-3646	CLIP-seq
MIRT2481060	hsa-miR-3652	CLIP-seq
MIRT806566	hsa-miR-369-3p	CLIP-seq
MIRT806567	hsa-miR-371b-5p	CLIP-seq
MIRT806573	hsa-miR-429	CLIP-seq
MIRT806618	hsa-miR-4418	CLIP-seq
MIRT2481061	hsa-miR-4430	CLIP-seq
MIRT806620	hsa-miR-4465	CLIP-seq
MIRT2481062	hsa-miR-4505	CLIP-seq
MIRT2481063	hsa-miR-4533	CLIP-seq
MIRT2481064	hsa-miR-4658	CLIP-seq
MIRT806580	hsa-miR-4698	CLIP-seq
MIRT806581	hsa-miR-4712-3p	CLIP-seq
MIRT1938250	hsa-miR-4719	CLIP-seq
MIRT2481065	hsa-miR-4758-5p	CLIP-seq
MIRT2481066	hsa-miR-4794	CLIP-seq
MIRT2481067	hsa-miR-4799-5p	CLIP-seq
MIRT806590	hsa-miR-495	CLIP-seq
MIRT2481068	hsa-miR-498	CLIP-seq
MIRT806630	hsa-miR-509-3-5p	CLIP-seq
MIRT806631	hsa-miR-509-5p	CLIP-seq
MIRT2481069	hsa-miR-511	CLIP-seq
MIRT2481070	hsa-miR-550b	CLIP-seq
MIRT2481071	hsa-miR-601	CLIP-seq
MIRT2481072	hsa-miR-605	CLIP-seq
MIRT806635	hsa-miR-618	CLIP-seq
MIRT806598	hsa-miR-1297	CLIP-seq
MIRT806554	hsa-miR-200b	CLIP-seq
MIRT806555	hsa-miR-200c	CLIP-seq
MIRT806601	hsa-miR-217	CLIP-seq
MIRT806602	hsa-miR-26a	CLIP-seq
MIRT806603	hsa-miR-26b	CLIP-seq
MIRT806573	hsa-miR-429	CLIP-seq
MIRT806618	hsa-miR-4418	CLIP-seq
MIRT806620	hsa-miR-4465	CLIP-seq
MIRT2481064	hsa-miR-4658	CLIP-seq
MIRT1938250	hsa-miR-4719	CLIP-seq
MIRT2481065	hsa-miR-4758-5p	CLIP-seq
MIRT2675606	hsa-miR-4778-5p	CLIP-seq
MIRT2481067	hsa-miR-4799-5p	CLIP-seq
MIRT2481068	hsa-miR-498	CLIP-seq
MIRT806630	hsa-miR-509-3-5p	CLIP-seq
MIRT806631	hsa-miR-509-5p	CLIP-seq
MIRT2481069	hsa-miR-511	CLIP-seq
MIRT2481070	hsa-miR-550b	CLIP-seq
MIRT2481071	hsa-miR-601	CLIP-seq
MIRT2481072	hsa-miR-605	CLIP-seq
MIRT806635	hsa-miR-618	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21914794, 31571211, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	21914794
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21914794, 25315773, 26567335
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0015914	Process	Phospholipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0045332	Process	Phospholipid translocation	IBA
GO:0045332	Process	Phospholipid translocation	IDA	32493773
GO:0045332	Process	Phospholipid translocation	NAS	21914794
GO:0046872	Function	Metal ion binding	IEA
GO:0055037	Component	Recycling endosome	IBA
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0090555	Function	Phosphatidylethanolamine flippase activity	IDA	24904167, 25315773, 32493773
GO:0090555	Function	Phosphatidylethanolamine flippase activity	IEA
GO:0090556	Function	Phosphatidylserine floppase activity	IEA
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IBA
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IEA
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	TAS
GO:0140331	Process	Aminophospholipid translocation	IEA
GO:0140346	Function	Phosphatidylserine flippase activity	IDA	24904167, 25315773, 32493773
GO:0140346	Function	Phosphatidylserine flippase activity	IEA
GO:1990531	Component	Phospholipid-translocating ATPase complex	IDA	32493773
GO:1990531	Component	Phospholipid-translocating ATPase complex	IEA
GO:1990531	Component	Phospholipid-translocating ATPase complex	IPI	21914794

Other IDs

• MIM: 300516
• HGNC: 13554
• e!Ensembl: ENSG00000101974

Protein

• UniProt ID: Q8NB49
• Protein name: Phospholipid-transporting ATPase IG (EC 7.6.2.1) (ATPase IQ) (ATPase class VI type 11C) (P4-ATPase flippase complex alpha subunit ATP11C)
• Protein function: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the pla
• PDB: 6LKN, 7BSP, 7BSQ, 7BSS, 7BSU, 7BSV, 7BSW, 7VSG, 7VSH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16209	PhoLip_ATPase_N	26 → 95	Phospholipid-translocating ATPase N-terminal	Family
  PF00122	E1-E2_ATPase	122 → 374		Family
  PF13246	Cation_ATPase	470 → 579		Family
  PF16212	PhoLip_ATPase_C	845 → 1097	Phospholipid-translocating P-type ATPase C-terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15533723, ECO:0000269|PubMed:26567335}.
• Sequence:

  MQMVPSLPPASECAGEEKRVGTRTVFVGNHPVSETEAYIAQRFCDNRIVSSKYTLWNFLP
  KNLFEQFRRIANFYFLIIFLVQVTVDTPTSPVTSGLPLFFVITVTAIKQGYEDCLRHRAD
  NEVNKSTVYIIENAKRVRKESEKIKVGDVVEVQADETFPCDLILLSSCTTDGTCYVTTAS
  LDGESNCKTHYAVRDTIALCTAESIDTLRAAIECEQPQPDLYKFVGRINIYSNSLEAVAR
  SLGPENLLLKGATLKNTEKIYGVAVYTGMETKMALNYQGKSQKRSAVEKSINAFLIVYLF
  ILLTKAAVCTTLKYVWQSTPYNDEPWYNQKTQKERETLKVLKMFTDFLSFMVLFNFIIPV
  SMYVTVEMQKFLGSFFISWDKDFYDEEINEGALVNTSDLNEELGQVDYVFTDKTGTLTEN
  SMEFIECCIDGHKYKGVTQEVDGLSQTDGTLTYFDKVDKNREELFLRALCLCHTVEIKTN
  DAVDGATESAELTYISSSPDEIALVKGAKRYGFTFLGNRNGYMRVENQRKEIEEYELLHT
  LNFDAVRRRMSVIVKTQEGDILLFCKGADSAVFPRVQNHEIELTKVHVERNAMDGYRTLC
  VAFKEIAPDDYERINRQLIEAKMALQDREEKMEKVFDDIETNMNLIGATAVEDKLQDQAA
  ETIEALHAAGLKVWVLTGDKMETAKSTCYACRLFQTNTELLELTTKTIEESERKEDRLHE
  LLIEYRKKLLHEFPKSTRSFKKAWTEHQEYGLIIDGSTLSLILNSSQDSSSNNYKSIFLQ
  ICMKCTAVLCCRMAPLQKAQIVRMVKNLKGSPITLSIGDGANDVSMILESHVGIGIKGKE
  GRQAARNSDYSVPKFKHLKKLLLAHGHLYYVRIAHLVQYFFYKNLCFILPQFLYQFFCGF
  SQQPLYDAAYLTMYNICFTSLPILAYSLLEQHINIDTLTSDPRLYMKISGNAMLQLGPFL
  YWTFLAAFEGTVFFFGTYFLFQTASLEENGKVYGNWTFGTIVFTVLVFTVTLKLALDTRF
  WTWINHFVIWGSLAFYVFFSFFWGGIIWPFLKQQRMYFVFAQMLSSVSTWLAIILLIFIS
  LFPEILLIVLKNVRRRSARRNLSCRRASDSLSARPSVRPLLLRTFSDESNVL

• Sequence length: 1132

Pathways

KEGG:

Efferocytosis

Reactome:

Ion transport by P-type ATPases

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Nonpapillary renal cell carcinoma	Pathogenic	rs2148723294	RCV005918441	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked congenital hemolytic anemia	Pathogenic; Likely pathogenic	rs2148723294, rs1556323334	RCV001844398 RCV000678207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATP11C-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia	Anemia	BEFREE	30850395		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	37671681	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	26944472, 37671681	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Congenital	Anemia	BEFREE	26944472, 30850395		★☆☆☆☆ Found in Text Mining only
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	28919113		★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	BEFREE	26045263		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of parathyroid gland	Parathyroid agenesis	BEFREE	16167084		★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	BEFREE	26045263		★☆☆☆☆ Found in Text Mining only
HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED	Anemia	CLINVAR_DG	26944472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED	Anemia	UNIPROT_DG	26944472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	31371488		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	BEFREE	28919113		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	30355768		★☆☆☆☆ Found in Text Mining only