ABCA7 (ATP binding cassette subfamily A member 7)

Gene

• Entrez ID: 10347
• Gene name: ATP binding cassette subfamily A member 7
• Gene symbol: ABCA7
• Synonyms (NCBI Gene): ABCA-SSN, ABCX, AD9
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115536223	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, synonymous variant, non coding transcript variant, 3 prime UTR variant, downstream transcript variant, genic downstream transcript variant
rs189260652	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201060968	G>A	Risk-factor, likely-benign, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant
rs538591288	T>-	Conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant, non coding transcript variant
rs547447016	AGCAGGG>-	Conflicting-interpretations-of-pathogenicity, risk-factor	Coding sequence variant, upstream transcript variant, non coding transcript variant, frameshift variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017401	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001891	Component	Phagocytic cup	IEA
GO:0001891	Component	Phagocytic cup	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005548	Function	Phospholipid transporter activity	IEA
GO:0005548	Function	Phospholipid transporter activity	IGI	28373057
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	14570867, 28373057
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0007613	Process	Memory	ISS
GO:0008542	Process	Visual learning	ISS
GO:0009986	Component	Cell surface	ISS
GO:0010875	Process	Positive regulation of cholesterol efflux	ISS
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019216	Process	Regulation of lipid metabolic process	ISS
GO:0030054	Component	Cell junction	IDA
GO:0031901	Component	Early endosome membrane	IEA
GO:0032587	Component	Ruffle membrane	IEA
GO:0032587	Component	Ruffle membrane	ISS
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IDA	14570867
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033700	Process	Phospholipid efflux	IBA
GO:0033700	Process	Phospholipid efflux	IDA	14570867
GO:0033700	Process	Phospholipid efflux	IEA
GO:0033700	Process	Phospholipid efflux	IGI	28373057
GO:0034188	Function	Apolipoprotein A-I receptor activity	IBA
GO:0034188	Function	Apolipoprotein A-I receptor activity	IDA	14570867
GO:0034188	Function	Apolipoprotein A-I receptor activity	IEA
GO:0034205	Process	Amyloid-beta formation	IEA
GO:0034205	Process	Amyloid-beta formation	IMP	26260791
GO:0034380	Process	High-density lipoprotein particle assembly	IDA	14570867
GO:0034504	Process	Protein localization to nucleus	ISS
GO:0038027	Process	Apolipoprotein A-I-mediated signaling pathway	IDA	14570867
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042985	Process	Negative regulation of amyloid precursor protein biosynthetic process	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043409	Process	Negative regulation of MAPK cascade	ISS
GO:0044857	Process	Plasma membrane raft organization	ISS
GO:0045332	Process	Phospholipid translocation	IDA	24097981
GO:0045806	Process	Negative regulation of endocytosis	ISS
GO:0050766	Process	Positive regulation of phagocytosis	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0090554	Function	Phosphatidylcholine floppase activity	IBA
GO:0090554	Function	Phosphatidylcholine floppase activity	IDA	24097981
GO:0090554	Function	Phosphatidylcholine floppase activity	IEA
GO:0090556	Function	Phosphatidylserine floppase activity	IBA
GO:0090556	Function	Phosphatidylserine floppase activity	IDA	24097981
GO:0090556	Function	Phosphatidylserine floppase activity	IEA
GO:0097386	Component	Glial cell projection	ISS
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IEA
GO:0140328	Function	Floppase activity	IDA	24097981
GO:0140328	Function	Floppase activity	IEA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	ISS
GO:1900223	Process	Positive regulation of amyloid-beta clearance	ISS
GO:1901076	Process	Positive regulation of engulfment of apoptotic cell	ISS
GO:1902430	Process	Negative regulation of amyloid-beta formation	ISS
GO:1902991	Process	Regulation of amyloid precursor protein catabolic process	IEA
GO:1902991	Process	Regulation of amyloid precursor protein catabolic process	IMP	26260791
GO:1902995	Process	Positive regulation of phospholipid efflux	ISS
GO:1903898	Process	Negative regulation of PERK-mediated unfolded protein response	ISS
GO:2000010	Process	Positive regulation of protein localization to cell surface	ISS

Other IDs

• MIM: 605414
• HGNC: 37
• e!Ensembl: ENSG00000064687

Protein

• UniProt ID: Q8IZY2
• Protein name: Phospholipid-transporting ATPase ABCA7 (EC 7.6.2.1) (ABCA-SSN) (ATP-binding cassette sub-family A member 7) (Autoantigen SS-N) (Macrophage ABC transporter)
• Protein function: Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylserine over phosphatidylcholine
• PDB: 8EDW, 8EE6, 8EEB, 8EOP, 8Y1O, 8Y1P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12698	ABC2_membrane_3	530 → 750		Family
  PF00005	ABC_tran	824 → 968	ABC transporter	Domain
  PF12698	ABC2_membrane_3	1433 → 1750		Family
  PF00005	ABC_tran	1810 → 1954	ABC transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in leukocytes (at protein level) (PubMed:10873640). Widely expressed (PubMed:10873640). Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow (PubMed:10873640, PubMed:1143
• Sequence:

  MAFWTQLMLLLWKNFMYRRRQPVQLLVELLWPLFLFFILVAVRHSHPPLEHHECHFPNKP
  LPSAGTVPWLQGLICNVNNTCFPQLTPGEEPGRLSNFNDSLVSRLLADARTVLGGASAHR
  TLAGLGKLIATLRAARSTAQPQPTKQSPLEPPMLDVAELLTSLLRTESLGLALGQAQEPL
  HSLLEAAEDLAQELLALRSLVELRALLQRPRGTSGPLELLSEALCSVRGPSSTVGPSLNW
  YEASDLMELVGQEPESALPDSSLSPACSELIGALDSHPLSRLLWRRLKPLILGKLLFAPD
  TPFTRKLMAQVNRTFEELTLLRDVREVWEMLGPRIFTFMNDSSNVAMLQRLLQMQDEGRR
  QPRPGGRDHMEALRSFLDPGSGGYSWQDAHADVGHLVGTLGRVTECLSLDKLEAAPSEAA
  LVSRALQLLAEHRFWAGVVFLGPEDSSDPTEHPTPDLGPGHVRIKIRMDIDVVTRTNKIR
  DRFWDPGPAADPLTDLRYVWGGFVYLQDLVERAAVRVLSGANPRAGLYLQQMPYPCYVDD
  VFLRVLSRSLPLFLTLAWIYSVTLTVKAVVREKETRLRDTMRAMGLSRAVLWLGWFLSCL
  GPFLLSAALLVLVLKLGDILPYSHPGVVFLFLAAFAVATVTQSFLLSAFFSRANLAAACG
  GLAYFSLYLPYVLCVAWRDRLPAGGRVAASLLSPVAFGFGCESLALLEEQGEGAQWHNVG
  TRPTADVFSLAQVSGLLLLDAALYGLATWYLEAVCPGQYGIPEPWNFPFRRSYWCGPRPP
  KSPAPCPTPLDPKVLVEEAPPGLSPGVSVRSLEKRFPGSPQPALRGLSLDFYQGHITAFL
  GHNGAGKTTTLSILSGLFPPSGGSAFILGHDVRSSMAAIRPHLGVCPQYNVLFDMLTVDE
  HVWFYGRLKGLSAAVVGPEQDRLLQDVGLVSKQSVQTRHLSGGMQRKLSVAIAFVGGSQV
  VILDEPTAGVDPASRRGIWELLLKYREGRTLILSTHHLDEAELLGDRVAVVAGGRLCCCG
  SPLFLRRHLGSGYYLTLVKARLPLTTNEKADTDMEGSVDTRQEKKNGSQGSRVGTPQLLA
  LVQHWVPGARLVEELPHELVLVLPYTGAHDGSFATLFRELDTRLAELRLTGYGISDTSLE
  EIFLKVVEECAADTDMEDGSCGQHLCTGIAGLDVTLRLKMPPQETALENGEPAGSAPETD
  QGSGPDAVGRVQGWALTRQQLQALLLKRFLLARRSRRGLFAQIVLPALFVGLALVFSLIV
  PPFGHYPALRLSPTMYGAQVSFFSEDAPGDPGRARLLEALLQEAGLEEPPVQHSSHRFSA
  PEVPAEVAKVLASGNWTPESPSPACQCSRPGARRLLPDCPAAAGGPPPPQAVTGSGEVVQ
  NLTGRNLSDFLVKTYPRLVRQGLKTKKWVNEVRYGGFSLGGRDPGLPSGQELGRSVEELW
  ALLSPLPGGALDRVLKNLTAWAHSLDAQDSLKIWFNNKGWHSMVAFVNRASNAILRAHLP
  PGPARHAHSITTLNHPLNLTKEQLSEGALMASSVDVLVSICVVFAMSFVPASFTLVLIEE
  RVTRAKHLQLMGGLSPTLYWLGNFLWDMCNYLVPACIVVLIFLAFQQRAYVAPANLPALL
  LLLLLYGWSITPLMYPASFFFSVPSTAYVVLTCINLFIGINGSMATFVLELFSDQKLQEV
  SRILKQVFLIFPHFCLGRGLIDMVRNQAMADAFERLGDRQFQSPLRWEVVGKNLLAMVIQ
  GPLFLLFTLLLQHRSQLLPQPRVRSLPLLGEEDEDVARERERVVQGATQGDVLVLRNLTK
  VYRGQRMPAVDRLCLGIPPGECFGLLGVNGAGKTSTFRMVTGDTLASRGEAVLAGHSVAR
  EPSAAHLSMGYCPQSDAIFELLTGREHLELLARLRGVPEAQVAQTAGSGLARLGLSWYAD
  RPAGTYSGGNKRKLATALALVGDPAVVFLDEPTTGMDPSARRFLWNSLLAVVREGRSVML
  TSHSMEECEALCSRLAIMVNGRFRCLGSPQHLKGRFAAGHTLTLRVPAARSQPAAAFVAA
  EFPGAELREAHGGRLRFQLPPGGRCALARVFGELAVHGAEHGVEDFSVSQTMLEEVFLYF
  SKDQGKDEDTEEQKEAGVGVDPAPGLQHPKRVSQFLDDPSTAETVL

• Sequence length: 2146

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
ABCA7-related disorder	Likely pathogenic; Pathogenic	rs2041967070, rs1302770627, rs2512353998, rs765531464, rs769207938	RCV003416716 RCV003412008 RCV003402755 RCV003399840 RCV003893740	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alzheimer disease 9	Likely pathogenic	rs780510608, rs770510230	RCV003991794 RCV005410921	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary degenerative dementia of the Alzheimer type, presenile onset	Conflicting classifications of pathogenicity; risk factor	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RESPIRATORY TRACT INFECTIOUS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	21460840, 25807283		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	24439028		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22445811, 23226438, 23360175, 23419238, 23669301, 23836404, 23954108, 24141082, 24743338, 25129075, 25189118, 25365775, 25706306, 26004081, 26092349, 26101835, 26654793, 27037232, 27289440, 27770636, 28005991, 28084078, 28199971, 28447221, 28650998, 28655137, 28789839, 29340569, 29589097, 29750252, 30318785, 30448613, 30478411, 31405128, 31585107, 31727106, 31745181, 31831047, 32039842, 32740652, 32941707, 32991610, 34090711, 34092785, 34151536, 34958020, 35001095, 35307406, 36094096, 36189598, 36421824, 36521383, 36573011, 37101235, 37212111, 37658429, 37681876, 37762058, 37827850, 37946268, 38232788, 38241287, 38422817, 40157320, 40528303	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	36982820	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	40708016	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease 9	Alzheimer disease	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer Disease Familial 3 with Spastic Paraparesis and Apraxia	Alzheimer disease	Pubtator	37212111	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	21460840, 25807283		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	28447221, 31381512		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	21460840, 25807283		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	22722634, 22832961, 23226438, 23571587, 23954108, 24878767, 24951455, 25189118, 26101835, 27770636, 28400126, 28447221, 28477215, 29401741, 29504051, 31659653, 31823285		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	21460840, 25807283		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	21460840, 21460841, 23571587, 24162737, 29777097, 30617256, 31473137		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	21460840, 21460841, 23571587, 24162737		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	21460840, 25807283		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	23467355, 24199960, 27030769, 28556232, 29401741		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25174650, 31405128	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	31230720		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	31230720	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	24670887, 26993346	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31267283		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24360806	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15593299		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21891868		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37296582	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30333865		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23226438	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34214049	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	25189118	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	23226438, 29750252, 31836585, 37330543	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	30596067, 31024289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	Pubtator	36982820	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	24438528	Associate	★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early-onset autosomal dominant Alzheimer disease	Alzheimer disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	21460840, 25807283		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	ORPHANET_DG	27037229		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	24670887		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	31405128, 32941707, 34561610	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35862252	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23226438, 24530172, 27005436, 31024289		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	31405128	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	32941707	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	24439028	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30333865		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	27037232, 31831047	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	25189118, 30478411		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15593299		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	31405128, 35752680, 36362122	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31189668, 31628463		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Alzheimer disease	Alzheimer disease	Orphanet			★☆☆☆☆ 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
ovarian neoplasm	Ovarian neoplasm	BEFREE	30333865		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23820587, 25174650		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31405128, 36593912, 36982820	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	21460840, 25807283		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30596067, 31024289		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30765504	Associate	★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	26517904		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	15593299	Associate	★☆☆☆☆ Found in Text Mining only