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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	21
Gene name	ATP binding cassette subfamily A member 3
Gene symbol	ABCA3
Synonyms (NCBI Gene)	ABC-CABC3EST111653LBM180SMDP3
Chromosome	16
Chromosome location	16p13.3
Summary	The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936691	T>G	Pathogenic	Missense variant, coding sequence variant
rs45592239	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45620539	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs121909181	C>T	Pathogenic	Coding sequence variant, stop gained
rs121909182	A>G	Pathogenic	Coding sequence variant, missense variant
rs121909183	A>G	Pathogenic	Coding sequence variant, missense variant
rs121909184	T>C	Pathogenic	Coding sequence variant, missense variant
rs121909185	A>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs141621969	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs143929832	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs149989682	T>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs201299260	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs754714105	C>T	Pathogenic	Missense variant, coding sequence variant
rs756855585	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs773223403	T>C	Likely-pathogenic	Splice acceptor variant
rs775903641	TGTAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs876657633	GCACCTT>TGG	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs973835010	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567335355	C>T	Pathogenic	Splice donor variant
rs1596842934	C>G	Likely-pathogenic	Splice acceptor variant

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016946	hsa-miR-335-5p	Microarray	18185580
MIRT050565	hsa-miR-20a-5p	CLASH	23622248
MIRT049276	hsa-miR-92a-3p	CLASH	23622248
MIRT049276	hsa-miR-92a-3p	CLASH	23622248
MIRT040559	hsa-miR-92b-3p	CLASH	23622248
MIRT441309	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT441309	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT757911	hsa-miR-1200	CLIP-seq
MIRT757912	hsa-miR-1343	CLIP-seq
MIRT757913	hsa-miR-3180	CLIP-seq
MIRT757914	hsa-miR-3180-3p	CLIP-seq
MIRT757915	hsa-miR-3193	CLIP-seq
MIRT757916	hsa-miR-3196	CLIP-seq
MIRT757917	hsa-miR-4324	CLIP-seq
MIRT757918	hsa-miR-4520a-5p	CLIP-seq
MIRT757919	hsa-miR-4520b-5p	CLIP-seq
MIRT757920	hsa-miR-4767	CLIP-seq
MIRT757921	hsa-miR-544b	CLIP-seq
MIRT757922	hsa-miR-617	CLIP-seq
MIRT757912	hsa-miR-1343	CLIP-seq
MIRT757913	hsa-miR-3180	CLIP-seq
MIRT757914	hsa-miR-3180-3p	CLIP-seq
MIRT757915	hsa-miR-3193	CLIP-seq
MIRT757916	hsa-miR-3196	CLIP-seq
MIRT757918	hsa-miR-4520a-5p	CLIP-seq
MIRT757919	hsa-miR-4520b-5p	CLIP-seq
MIRT1923558	hsa-miR-4708-5p	CLIP-seq
MIRT757920	hsa-miR-4767	CLIP-seq
MIRT1923559	hsa-miR-4771	CLIP-seq
MIRT757912	hsa-miR-1343	CLIP-seq
MIRT2165030	hsa-miR-3166	CLIP-seq
MIRT1923559	hsa-miR-4771	CLIP-seq
MIRT2165031	hsa-miR-4802-3p	CLIP-seq
MIRT2165032	hsa-miR-508-5p	CLIP-seq
MIRT2165033	hsa-miR-520a-5p	CLIP-seq
MIRT2165034	hsa-miR-525-5p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
SALL4	Activation	21526180;23432194
SALL4A	Activation	21526180

Show/Hide all (66)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005319	Function	Lipid transporter activity	IBA
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005319	Function	Lipid transporter activity	TAS
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	27177387
GO:0005886	Component	Plasma membrane	IDA	11718719, 23137377
GO:0006855	Process	Xenobiotic transmembrane transport	IMP	26903515
GO:0006869	Process	Lipid transport	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0006869	Process	Lipid transport	TAS
GO:0008559	Function	ABC-type xenobiotic transporter activity	IEA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IMP	26903515
GO:0009410	Process	Response to xenobiotic stimulus	TAS	8706931
GO:0010875	Process	Positive regulation of cholesterol efflux	IMP	25817392
GO:0012505	Component	Endomembrane system	IEA
GO:0015914	Process	Phospholipid transport	IMP	28887056
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	16959783
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030324	Process	Lung development	IEA
GO:0030324	Process	Lung development	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IDA	16959783, 17574245, 20863830
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0032368	Process	Regulation of lipid transport	IEA
GO:0032464	Process	Positive regulation of protein homooligomerization	IDA	27352740
GO:0032585	Component	Multivesicular body membrane	IEA
GO:0034204	Process	Lipid translocation	IEA
GO:0042599	Component	Lamellar body	IDA	27177387
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042908	Process	Xenobiotic transport	IMP	26903515
GO:0043129	Process	Surfactant homeostasis	IEA
GO:0043129	Process	Surfactant homeostasis	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0046470	Process	Phosphatidylcholine metabolic process	IEA
GO:0046470	Process	Phosphatidylcholine metabolic process	IMP	17574245, 28887056
GO:0046470	Process	Phosphatidylcholine metabolic process	ISS
GO:0046471	Process	Phosphatidylglycerol metabolic process	IEA
GO:0046471	Process	Phosphatidylglycerol metabolic process	ISS
GO:0046618	Process	Xenobiotic export from cell	IMP	26903515
GO:0046890	Process	Regulation of lipid biosynthetic process	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055091	Process	Phospholipid homeostasis	IEA
GO:0070925	Process	Organelle assembly	IEA
GO:0070925	Process	Organelle assembly	ISS
GO:0097208	Component	Alveolar lamellar body	IDA	11718719
GO:0097232	Component	Lamellar body membrane	IDA	20863830
GO:0097232	Component	Lamellar body membrane	TAS
GO:0097233	Component	Alveolar lamellar body membrane	IDA	11940594, 16959783
GO:0097233	Component	Alveolar lamellar body membrane	IEA
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120019	Function	Phosphatidylcholine transfer activity	IMP	28887056
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IEA
GO:0140345	Function	Phosphatidylcholine flippase activity	IMP	27177387, 31473345
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0150172	Process	Regulation of phosphatidylcholine metabolic process	IMP	25817392, 31473345
GO:1902995	Process	Positive regulation of phospholipid efflux	IMP	31473345
GO:2001140	Process	Positive regulation of phospholipid transport	IMP	27177387

MIM	HGNC	e!Ensembl
601615	33	ENSG00000167972

Q99758

Protein name

Phospholipid-transporting ATPase ABCA3 (EC 7.6.2.1) (ABC-C transporter) (ATP-binding cassette sub-family A member 3) (ATP-binding cassette transporter 3) (ATP-binding cassette 3) (Xenobiotic-transporting ATPase ABCA3) (EC 7.6.2.2) [Cleaved into: 150 Kda m

Protein function

Catalyzes the ATP-dependent transport of phospholipids such as phosphatidylcholine and phosphoglycerol from the cytoplasm into the lumen side of lamellar bodies, in turn participates in the lamellar bodies biogenesis and homeostasis of pulmonary

PDB

7W01 , 7W02

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12698	ABC2_membrane_3	23 → 469		Family
PF00005	ABC_tran	549 → 693	ABC transporter	Domain
PF12698	ABC2_membrane_3	923 → 1323		Family
PF00005	ABC_tran	1399 → 1543	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, pancreas, skeletal muscle and heart (PubMed:8706931). Highly expressed in the lung in an AT2-cell-specific manner (PubMed:11718719, PubMed:8706931). Weakly expressed in placenta, kidney and liver (PubMed:8706931). A

Sequence

MAVLRQLALLLWKNYTLQKRKVLVTVLELFLPLLFSGILIWLRLKIQSENVPNATIYPGQ
SIQELPLFFTFPPPGDTWELAYIPSHSDAAKTVTETVRRALVINMRVRGFPSEKDFEDYI
RYDNCSSSVLAAVVFEHPFNHSKEPLPLAVKYHLRFSYTRRNYMWTQTGSFFLKETEGWH
TTSLFPLFPNPGPREPTSPDGGEPGYIREGFLAVQHAVDRAIMEYHADAATRQLFQRLTV
TIKRFPYPPFIADPFLVAIQYQLPLLLLLSFTYTALTIARAVVQEKERRLKEYMRMMGLS
SWLHWSAWFLLFFLFLLIAASFMTLLFCVKVKPNVAVLSRSDPSLVLAFLLCFAISTISF
SFMVSTFFSKANMAAAFGGFLYFFTYIPYFFVAPRYNWMTLSQKLCSCLLSNVAMAMGAQ
LIGKFEAKGMGIQWRDLLSPVNVDDDFCFGQVLGMLLLDSVLYGLVTWYMEAVFPGQFGV
PQPWYFFIMPSYWCGKPRAVAGKEEEDSDPEKALRNEYFEAEPEDLVAGIKIKHLSKVFR
VGNKDRAAVRDLNLNLYEGQITVLLGHNGAGKTTTLSMLTGLFPPTSGRAYISGYEISQD
MVQIRKSLGLCPQHDILFDNLTVAEHLYFYAQLKGLSRQKCPEEVKQMLHIIGLEDKWNS
RSRFLSGGMRRKLSIGIALIAGSKVLILDEPTSGMDAISRRAIWDLLQRQKSDRTIVLTT
HFMDEADLLGDRIAIMAKGELQCCGSSLFLKQKYGAGYHMTLVKEPHCNPEDISQLVHHH
VPNATLESSAGAELSFILPRESTHRFEGLFAKLEKKQKELGIASFGASITTMEEVFLRVG
KLVDSSMDIQAIQLPALQYQHERRASDWAVDSNLCGAMDPSDGIGALIEEERTAVKLNTG
LALHCQQFWAMFLKKAAYSWREWKMVAAQVLVPLTCVTLALLAINYSSELFDDPMLRLTL
GEYGRTVVPFSVPGTSQLGQQLSEHLKDALQAEGQEPREVLGDLEEFLIFRASVEGGGFN
ERCLVAASFRDVGERTVVNALFNNQAYHSPATALAVVDNLLFKLLCGPHASIVVSNFPQP
RSALQAAKDQFNEGRKGFDIALNLLFAMAFLASTFSILAVSERAVQAKHVQFVSGVHVAS
FWLSALLWDLISFLIPSLLLLVVFKAFDVRAFTRDGHMADTLLLLLLYGWAIIPLMYLMN
FFFLGAATAYTRLTIFNILSGIATFLMVTIMRIPAVKLEELSKTLDHVFLVLPNHCLGMA
VSSFYENYETRRYCTSSEVAAHYCKKYNIQYQENFYAWSAPGVGRFVASMAASGCAYLIL
LFLIETNLLQRLRGILCALRRRRTLTELYTRMPVLPEDQDVADERTRILAPSPDSLLHTP
LIIKELSKVYEQRVPLLAVDRLSLAVQKGECFGLLGFNGAGKTTTFKMLTGEESLTSGDA
FVGGHRISSDVGKVRQRIGYCPQFDALLDHMTGREMLVMYARLRGIPERHIGACVENTLR
GLLLEPHANKLVRTYSGGNKRKLSTGIALIGEPAVIFLDEPSTGMDPVARRLLWDTVARA
RESGKAIIITSHSMEECEALCTRLAIMVQGQFKCLGSPQHLKSKFGSGYSLRAKVQSEGQ
QEALEEFKAFVDLTFPGSVLEDEHQGMVHYHLPGRDLSWAKVFGILEKAKEKYGVDDYSV
SQISLEQVFLSFAHLQPPTAEEGR

Sequence length

1704

Interactions

View interactions

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 (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ABCA3-related disorder	Pathogenic	rs189077405, rs2505632878, rs2505637318, rs1233027765, rs2501017765	RCV003405727 RCV003397239 RCV003404598 RCV003404472 RCV003414392	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs149989682	RCV005892130	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital hyperammonemia, type I	Likely pathogenic	rs1460001890	RCV004813201	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse interstitial pulmonary fibrosis	Likely pathogenic; Pathogenic	rs149989682, rs876657633	RCV000615487 RCV000215018	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary pulmonary alveolar proteinosis	Pathogenic; Likely pathogenic	rs1052598974, rs189077405, rs2093657764, rs2093654880, rs2505619224, rs2505623440, rs763166660, rs2505613797, rs200171469, rs776731355, rs968080956, rs781422468, rs1297025959, rs373617498, rs771984033 View all (12 more)	RCV002404896 RCV006392048 RCV002370306 RCV002329762 RCV002357473 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Interstitial lung disease 2	Likely pathogenic; Pathogenic	rs149989682, rs2093649055, rs1298655924	RCV002284194 RCV001171319 RCV001171318	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Interstitial lung disease due to ABCA3 deficiency	Pathogenic; Likely pathogenic	rs189077405, rs2141696548, rs2141715669, rs2093654880, rs1460001890, rs768483175, rs763166660, rs200171469, rs781422468, rs1297025959, rs373617498, rs771984033, rs1406324789, rs149989682, rs121909181 View all (29 more)	RCV002246441 RCV001844304 RCV001780570 RCV001804246 RCV005860287 View all (39 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz syndrome	Likely pathogenic; Pathogenic	rs200171469	RCV004545297	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs1298655924	RCV005908878	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs149989682	RCV005892129	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs149989682	RCV005892132	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Likely pathogenic; Pathogenic	rs149989682, rs876657633, rs754714105, rs1596842934	RCV000615487 RCV000215018 RCV000221771 RCV000826093	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs149989682	RCV005892131	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

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.
Abnormal pulmonary interstitial morphology	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bullous lung disease	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 22q11.2 deletion syndrome, distal	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of lung	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMPHYSEMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERAMMONEMIA DUE TO CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ALVEOLAR PROTEINOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Surfactant Metabolism Dysfunction, Recessive	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory failure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SURFACTANT DYSFUNCTION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Surfactant metabolism dysfunction, pulmonary, 1	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (86)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acoustic Neuroma	Acoustic Neuroma	BEFREE	31146115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	30639603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	17574245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30639603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	BEFREE	24047351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	26780485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	29249220		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18603241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31146704, 32977823, 38019257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	18603241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	18603241, 34465876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28683465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract	BEFREE	25406294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract	GENOMICS_ENGLAND_DG	25406294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28744141, 30639603, 31214760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	16857811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	16982851, 22866751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	16007253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	38275610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	CLINVAR_DG	15976379, 17597647, 18024538, 18246475, 18317237, 18603241, 18676873, 22145626, 22304854, 22435821, 22800827, 22866751, 23166334, 24136335, 24871971, 25073622, 25553246 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	ORPHANET_DG	25553246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	19647838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Honeycomb lung	Honeycomb lung	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyaline Membrane Disease	Hyaline Membrane Disease	ORPHANET_DG	27516224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	17885266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26780485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	16007253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18628224, 28642621		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24730976, 28642621	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	ORPHANET_DG	25553246		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary fibrosis	Pulmonary Fibrosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infant acute respiratory distress syndrome	Respiratory Distress Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Interstitial lung disease due to ABCA3 deficiency	Interstitial Lung Disease	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lamellar ichthyosis, type 2	Lamellar ichthyosis	BEFREE	16007253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19880777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	14687625, 15531465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	16857811, 18463677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	15044640, 15976379, 17127271, 17142158, 17429902, 17597647, 20304423, 21867529, 22337229, 23846195, 24024739, 24871971, 26222203, 27516224, 28025703, 28887056, 29505158 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	15044640, 15976379, 17660803, 21867529, 22068586, 22337229, 22866751, 24024739, 24871971, 27031696, 28887056, 34638622, 36135709, 36376106, 36808083, 39789505 View all (1 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases Interstitial	Lung disease	Pubtator	15976379, 17660803, 18676873, 20371530, 20863830, 21214890, 22068586, 22337229, 23814005, 24730976, 24871971, 27031696, 28642621, 31210424, 31331098 View all (11 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	15976379, 16721150, 17142158, 17575475, 17660803, 18024538, 18676873, 19220077, 20371530, 21464189, 22068586, 22145626, 22337229, 22434821, 23443156 View all (17 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	38575158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28683465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	16959783, 29566461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	25246735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	25056761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23689165, 31300274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine cell hyperplasia of infancy	Neuroendocrine Cell Hyperplasia	BEFREE	17885266, 19237389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23689165, 28683465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Persistent Fetal Circulation Syndrome	Persistent Fetal Circulation	BEFREE	25105258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	16928819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	18936737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	18936737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Pulmonary alveolar proteinosis	Pubtator	17660803, 24859540	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22866751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	20190032, 26780485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	18603241, 24730976	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24730976, 26780485		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	26780485		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiration Disorders	Respiration Disorders	BEFREE	17142158, 22337229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	BEFREE	16728712, 17429902, 18246475, 22145626, 22707629, 24269975, 25031143, 26522252, 26780485, 27374344, 28642621, 29325094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	ORPHANET_DG	27516224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	16728712, 17429902, 18246475, 22145626, 22707629, 24269975, 25031143, 26522252, 26780485, 27374344, 28642621, 29325094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	16415354, 16728712, 17429902, 18246475, 18317237, 18603241, 22068586, 22145626, 22707629, 22800827, 23166334, 24269975, 24657120, 25031143, 26522252 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	ORPHANET_DG	27516224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	17660803, 18246475, 19647838, 21189475, 22800827, 23443156, 25421131, 25712598, 29263307		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	17142158, 22337229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	22337229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Surfactant Dysfunction	Pulmonary surfactant metabolism dysfunction	Pubtator	15044640, 15976379, 16959783, 18603241, 18676873, 19647838, 20863830, 21214890, 21867529, 24024739, 25031143, 28215425, 29255193, 31210424, 32532878 View all (5 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Surfactant Metabolism Dysfunction Pulmonary 3	Pulmonary surfactant metabolism dysfunction	Pubtator	22337229, 35170262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Surfactant Metabolism Dysfunction Pulmonary 3	Pulmonary surfactant metabolism dysfunction	Pubtator	33504532	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Surfactant Metabolism Dysfunction, Pulmonary, 3	Surfactant Metabolism Dysfunction, Pulmonary	UNIPROT_DG	15044640		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Surfactant Metabolism Dysfunction, Pulmonary, 3	Surfactant Metabolism Dysfunction, Pulmonary	CLINVAR_DG	15976379, 18317237, 18676873, 22304854, 22434821, 22866751, 23166334, 24871971, 27374344, 29505158		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Surfactant Metabolism Dysfunction, Pulmonary, 3	Surfactant Metabolism Dysfunction, Pulmonary	GENOMICS_ENGLAND_DG	17719949, 25553246		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Surfactant Metabolism Dysfunction, Pulmonary, 3	Surfactant Metabolism Dysfunction, Pulmonary	ORPHANET_DG	22018035		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Surfactant Metabolism Dysfunction, Pulmonary, 3	Surfactant Metabolism Dysfunction, Pulmonary	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synovitis	Synovitis	Pubtator	20371530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCA3 (ATP binding cassette subfamily A member 3)