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	51761
Gene name	ATPase phospholipid transporting 8A2
Gene symbol	ATP8A2
Synonyms (NCBI Gene)	ATPATPIBCAMRQ4IBML-1
Chromosome	13
Chromosome location	13q12.13
Summary	The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of t

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs202017613	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs546968533	C>G,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs755133567	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs864309608	G>T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1064793377	G>A,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1064795308	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064795309	AATGGT>-	Likely-pathogenic	5 prime UTR variant, intron variant, splice donor variant, genic upstream transcript variant, coding sequence variant
rs1064795610	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1156904586	->T	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1304109530	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555263787	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1593326999	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1593410369	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs1593576872	T>A	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all (45)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028669	hsa-miR-30a-5p	Proteomics	18668040
MIRT032045	hsa-miR-16-5p	Proteomics	18668040
MIRT809720	hsa-miR-1236	CLIP-seq
MIRT809721	hsa-miR-3681	CLIP-seq
MIRT809722	hsa-miR-3691-5p	CLIP-seq
MIRT809723	hsa-miR-4432	CLIP-seq
MIRT809724	hsa-miR-4685-5p	CLIP-seq
MIRT809725	hsa-miR-4711-5p	CLIP-seq
MIRT809726	hsa-miR-4761-3p	CLIP-seq
MIRT809727	hsa-miR-576-5p	CLIP-seq
MIRT809728	hsa-miR-7	CLIP-seq
MIRT1939214	hsa-miR-4641	CLIP-seq
MIRT1939215	hsa-miR-4665-3p	CLIP-seq
MIRT1939216	hsa-miR-4760-3p	CLIP-seq
MIRT1939217	hsa-miR-604	CLIP-seq
MIRT1939218	hsa-miR-647	CLIP-seq
MIRT2178330	hsa-miR-1286	CLIP-seq
MIRT2178331	hsa-miR-2392	CLIP-seq
MIRT2178332	hsa-miR-3151	CLIP-seq
MIRT2178333	hsa-miR-3169	CLIP-seq
MIRT2178334	hsa-miR-3194-3p	CLIP-seq
MIRT2178335	hsa-miR-329	CLIP-seq
MIRT2178336	hsa-miR-345	CLIP-seq
MIRT2178337	hsa-miR-362-3p	CLIP-seq
MIRT2178338	hsa-miR-3941	CLIP-seq
MIRT2178339	hsa-miR-4275	CLIP-seq
MIRT809723	hsa-miR-4432	CLIP-seq
MIRT2178340	hsa-miR-4447	CLIP-seq
MIRT2178341	hsa-miR-4462	CLIP-seq
MIRT2178342	hsa-miR-4472	CLIP-seq
MIRT2178343	hsa-miR-4515	CLIP-seq
MIRT2178344	hsa-miR-4522	CLIP-seq
MIRT2178345	hsa-miR-466	CLIP-seq
MIRT2178346	hsa-miR-4672	CLIP-seq
MIRT2178347	hsa-miR-4698	CLIP-seq
MIRT2178348	hsa-miR-4766-5p	CLIP-seq
MIRT2178349	hsa-miR-491-5p	CLIP-seq
MIRT2178350	hsa-miR-495	CLIP-seq
MIRT2178351	hsa-miR-518d-5p	CLIP-seq
MIRT2178352	hsa-miR-519b-5p	CLIP-seq
MIRT2178353	hsa-miR-519c-5p	CLIP-seq
MIRT2178354	hsa-miR-520c-5p	CLIP-seq
MIRT2178355	hsa-miR-526a	CLIP-seq
MIRT2178356	hsa-miR-603	CLIP-seq
MIRT2178357	hsa-miR-610	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0003011	Process	Involuntary skeletal muscle contraction	IEA
GO:0005515	Function	Protein binding	IPI	31397519
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA	20947505
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20947505, 26567335
GO:0005886	Component	Plasma membrane	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	10551800
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0010842	Process	Retina layer formation	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0015247	Function	Aminophospholipid flippase activity	IEA
GO:0015914	Process	Phospholipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042755	Process	Eating behavior	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043588	Process	Skin development	IEA
GO:0045332	Process	Phospholipid translocation	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048666	Process	Neuron development	IBA
GO:0048666	Process	Neuron development	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0060052	Process	Neurofilament cytoskeleton organization	IEA
GO:0061092	Process	Positive regulation of phospholipid translocation	IEA
GO:0090555	Function	Phosphatidylethanolamine flippase activity	ISS
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:0140331	Process	Aminophospholipid translocation	ISS
GO:0140346	Function	Phosphatidylserine flippase activity	ISS
GO:1990531	Component	Phospholipid-translocating ATPase complex	IEA
GO:1990531	Component	Phospholipid-translocating ATPase complex	IPI	20947505

MIM	HGNC	e!Ensembl
605870	13533	ENSG00000132932

Q9NTI2

Protein name

Phospholipid-transporting ATPase IB (EC 7.6.2.1) (ATPase class I type 8A member 2) (ML-1) (P4-ATPase flippase complex alpha subunit ATP8A2)

Protein function

Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribut

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16209	PhoLip_ATPase_N	58 → 121	Phospholipid-translocating ATPase N-terminal	Family
PF00122	E1-E2_ATPase	148 → 387		Family
PF13246	Cation_ATPase	504 → 604		Family
PF16212	PhoLip_ATPase_C	847 → 1099	Phospholipid-translocating P-type ATPase C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in the brain, cerebellum, retina and testis. {ECO:0000269|PubMed:20683487, ECO:0000269|PubMed:22892528}.

Sequence

MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYL
NQPHLNKFRDNQISTAKYSVLTFLPRFLYEQIRRAANAFFLFIALLQQIPDVSPTGRYTT
LVPLIIILTIAGIKEIVEDFKRHKADNAVNKKKTIVLRNGMWHTIMWKEVAVGDIVKVVN
GQYLPADVVLLSSSEPQAMCYVETANLDGETNLKIRQGLSHTADMQTREVLMKLSGTIEC
EGPNRHLYDFTGNLNLDGKSLVALGPDQILLRGTQLRNTQWVFGIVVYTGHDTKLMQNST
KAPLKRSNVEKVTNVQILVLFGILLVMALVSSAGALYWNRSHGEKNWYIKKMDTTSDNFG
YNLLTFIILYNNLIPISLLVTLEVVKYTQALFINWDTDMYYIGNDTPAMARTSNLNEELG
QVKYLFSDKTGTLTCNIMNFKKCSIAGVTYGHFPELAREPSSDDFCRMPPPCSDSCDFDD
PRLLKNIEDRHPTAPCIQEFLTLLAVCHTVVPEKDGDNIIYQASSPDEAALVKGAKKLGF
VFTARTPFSVIIEAMGQEQTFGILNVLEFSSDRKRMSVIVRTPSGRLRLYCKGADNVIFE
RLSKDSKYMEETLCHLEYFATEGLRTLCVAYADLSENEYEEWLKVYQEASTILKDRAQRL
EECYEIIEKNLLLLGATAIEDRLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCR
LVSQNMALILLKEDSLDATRAAITQHCTDLGNLLGKENDVALIIDGHTLKYALSFEVRRS
FLDLALSCKAVICCRVSPLQKSEIVDVVKKRVKAITLAIGDGANDVGMIQTAHVGVGISG
NEGMQATNNSDYAIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIELWFAFVN
GFSGQILFERWCIGLYNVIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGFNTKV
FWGHCINALVHSLILFWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLET
TAWTKFSHLAVWGSMLTWLVFFGIYSTIWPTIPIAPDMRGQATMVLSSAHFWLGLFLVPT
ACLIEDVAWRAAKHTCKKTLLEEVQELETKSRVLGKAVLRDSNGKRLNERDRLIKRLGRK
TPPTLFRGSSLQQGVPHGYAFSQEEHGAVSQEEVIRAYDTTKKKSRKK

Sequence length

1188

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis		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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ATP8A2-related disorder	Likely pathogenic; Pathogenic	rs1156904586	RCV003411475	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	Likely pathogenic; Pathogenic	rs1566306570, rs763272441, rs373909734, rs2138177530, rs779337270, rs2137911082, rs2137994737, rs2038343394, rs1566188424, rs2542384306, rs1593531290, rs2542426988, rs2542315282, rs2542384109, rs1064793377 View all (13 more)	RCV001330940 RCV001330941 RCV001336352 RCV001780668 RCV001780669 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dysequilibrium syndrome	Pathogenic	rs1952385477	RCV001034613	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

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.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 4	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, INTELLECTUAL DISABILITY, AND DYSEQUILIBRIUM	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual deficiency	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anorexia Nervosa	Anorexia	BEFREE	23568457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	31612321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	31612321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	22056721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	23568457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28069692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	31612321, 33079427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	GENOMICS_ENGLAND_DG	22892528, 29531481		★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	UNIPROT_DG	22892528		★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	22892528, 31397519, 31612321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	22892528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31029604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31029604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	30012219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	30012219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	30012219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30012219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28502252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	25931474	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	24807585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30012219, 35321980, 38436085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium Syndrome	ORPHANET_DG	22892528		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysequilibrium syndrome	Dysequilibrium Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysequilibrium syndrome	Dysequilibrium Syndrome	BEFREE	24807585		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysequilibrium syndrome	Dysequilibrium syndrome	Pubtator	33079427, 35321980, 38109455, 38436085	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	30012219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	30012219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	GWASDB_DG	23568457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	GWASCAT_DG	23568457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27679995, 31612321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31905754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30012219, 31612321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	35321980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	38109455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	30012219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30012219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	22892528, 33079427, 35321980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	29531481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31397519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10470116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31029604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	20556797, 34757128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	22892528, 22912588, 25590979, 27679995, 28454995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	30012219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	30012219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31397519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27932490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	27679995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	30012219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28502252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	27764769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	GWASDB_DG	22952805		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seckel syndrome 1	Seckel syndrome	Pubtator	31045292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seckel syndrome 2	Seckel syndrome	Pubtator	31045292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Short QT Syndrome 1	Short qt syndrome	Pubtator	34281161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sialidosis, type 2	Sialidosis	BEFREE	7282783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	12907444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ATP8A2 (ATPase phospholipid transporting 8A2)