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	26154
Gene name	ATP binding cassette subfamily A member 12
Gene symbol	ABCA12
Synonyms (NCBI Gene)	ARCI4AARCI4BICR2BLI2
Chromosome	2
Chromosome location	2q35
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 s

Show/Hide all (37)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11891778	G>A,C,T	Likely-pathogenic, likely-benign, pathogenic, benign	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs28940268	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28940269	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28940270	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28940271	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28940568	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs114863111	G>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs142196906	T>A,C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs149243979	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs149399707	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs201542666	G>A,C,T	Likely-pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant, genic upstream transcript variant
rs267606622	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs387906285	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs755391236	T>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs756771290	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs757520757	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs758568142	C>A,T	Likely-pathogenic	Splice donor variant
rs761557390	A>C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs762065937	C>G,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs763182554	A>C,G	Pathogenic	Splice donor variant
rs763481375	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs767707248	G>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs772046102	G>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs886039296	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1064794286	A>-,AA	Likely-pathogenic	Frameshift variant, coding sequence variant, stop gained, non coding transcript variant
rs1131691611	C>T	Pathogenic	Splice acceptor variant
rs1187032187	C>A,T	Pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1553522866	G>C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553523037	C>G	Pathogenic	Splice donor variant
rs1553523093	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553523630	A>G	Likely-pathogenic	Splice donor variant
rs1553526002	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1559120651	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559134341	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1574955196	TC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1574984736	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575019786	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant

Show/Hide all (75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017104	hsa-miR-335-5p	Microarray	18185580
MIRT661030	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT661029	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT661028	hsa-miR-1295b-5p	HITS-CLIP	23824327
MIRT661027	hsa-miR-1912	HITS-CLIP	23824327
MIRT661026	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT661025	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT661024	hsa-miR-660-5p	HITS-CLIP	23824327
MIRT661023	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT661022	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT661021	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT661019	hsa-miR-4287	HITS-CLIP	23824327
MIRT661020	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT661018	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT661017	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT661016	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT661015	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT661014	hsa-miR-1249-3p	HITS-CLIP	23824327
MIRT661030	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT661029	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT661028	hsa-miR-1295b-5p	HITS-CLIP	23824327
MIRT661027	hsa-miR-1912	HITS-CLIP	23824327
MIRT661026	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT661025	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT661024	hsa-miR-660-5p	HITS-CLIP	23824327
MIRT661023	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT661022	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT661021	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT661019	hsa-miR-4287	HITS-CLIP	23824327
MIRT661020	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT661018	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT661017	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT661016	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT661015	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT661014	hsa-miR-1249-3p	HITS-CLIP	23824327
MIRT757824	hsa-miR-320a	CLIP-seq
MIRT757825	hsa-miR-320b	CLIP-seq
MIRT757826	hsa-miR-320c	CLIP-seq
MIRT757827	hsa-miR-320d	CLIP-seq
MIRT757828	hsa-miR-329	CLIP-seq
MIRT757829	hsa-miR-3941	CLIP-seq
MIRT757830	hsa-miR-4429	CLIP-seq
MIRT757831	hsa-miR-4789-3p	CLIP-seq
MIRT757832	hsa-miR-568	CLIP-seq
MIRT757833	hsa-miR-603	CLIP-seq
MIRT757834	hsa-miR-643	CLIP-seq
MIRT1923524	hsa-miR-27a	CLIP-seq
MIRT1923525	hsa-miR-27b	CLIP-seq
MIRT2164979	hsa-miR-1184	CLIP-seq
MIRT2164980	hsa-miR-1301	CLIP-seq
MIRT1923524	hsa-miR-27a	CLIP-seq
MIRT1923525	hsa-miR-27b	CLIP-seq
MIRT2164981	hsa-miR-3065-3p	CLIP-seq
MIRT2164982	hsa-miR-3609	CLIP-seq
MIRT2164983	hsa-miR-361-3p	CLIP-seq
MIRT2164984	hsa-miR-3620	CLIP-seq
MIRT2164985	hsa-miR-377	CLIP-seq
MIRT2164986	hsa-miR-4291	CLIP-seq
MIRT2164987	hsa-miR-4643	CLIP-seq
MIRT2164988	hsa-miR-466	CLIP-seq
MIRT2164989	hsa-miR-4660	CLIP-seq
MIRT2164990	hsa-miR-4733-3p	CLIP-seq
MIRT2164991	hsa-miR-4760-3p	CLIP-seq
MIRT757831	hsa-miR-4789-3p	CLIP-seq
MIRT2164992	hsa-miR-499-3p	CLIP-seq
MIRT2164993	hsa-miR-499a-3p	CLIP-seq
MIRT2164994	hsa-miR-5047	CLIP-seq
MIRT2164995	hsa-miR-513a-5p	CLIP-seq
MIRT2164996	hsa-miR-548ah	CLIP-seq
MIRT2164997	hsa-miR-578	CLIP-seq
MIRT2164998	hsa-miR-579	CLIP-seq
MIRT2164999	hsa-miR-586	CLIP-seq
MIRT2441914	hsa-miR-1276	CLIP-seq
MIRT2441915	hsa-miR-4762-3p	CLIP-seq
MIRT2441916	hsa-miR-4766-5p	CLIP-seq

Show/Hide all (76)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	17927575
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003336	Process	Corneocyte desquamation	IEA
GO:0003336	Process	Corneocyte desquamation	IMP	19179616
GO:0003336	Process	Corneocyte desquamation	ISS
GO:0005102	Function	Signaling receptor binding	IPI	23931754
GO:0005319	Function	Lipid transporter activity	IBA
GO:0005319	Function	Lipid transporter activity	IDA	16007253
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005319	Function	Lipid transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	23931754
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	NAS	12697999
GO:0005737	Component	Cytoplasm	IDA	23931754
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	23931754
GO:0005886	Component	Plasma membrane	TAS
GO:0006672	Process	Ceramide metabolic process	IDA	17927575
GO:0006672	Process	Ceramide metabolic process	IEA
GO:0006672	Process	Ceramide metabolic process	ISS
GO:0006869	Process	Lipid transport	IBA
GO:0006869	Process	Lipid transport	IDA	16007253
GO:0006869	Process	Lipid transport	IEA
GO:0006869	Process	Lipid transport	NAS	12915478
GO:0006869	Process	Lipid transport	TAS
GO:0006886	Process	Intracellular protein transport	IMP	19179616
GO:0010875	Process	Positive regulation of cholesterol efflux	IDA	23931754
GO:0010875	Process	Positive regulation of cholesterol efflux	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	12697999
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019725	Process	Cellular homeostasis	NAS	12697999
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031424	Process	Keratinization	IEA
GO:0032376	Process	Positive regulation of cholesterol transport	IEA
GO:0032379	Process	Positive regulation of intracellular lipid transport	IEA
GO:0032379	Process	Positive regulation of intracellular lipid transport	ISS
GO:0032940	Process	Secretion by cell	IMP	16007253
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033700	Process	Phospholipid efflux	IMP	23931754
GO:0034040	Function	ATPase-coupled lipid transmembrane transporter activity	IC	16007253
GO:0034191	Function	Apolipoprotein A-I receptor binding	IBA
GO:0034191	Function	Apolipoprotein A-I receptor binding	IPI	23931754
GO:0034204	Process	Lipid translocation	IEA
GO:0035627	Process	Ceramide transport	IDA	17927575
GO:0035627	Process	Ceramide transport	IEA
GO:0035627	Process	Ceramide transport	IMP	20869849
GO:0035627	Process	Ceramide transport	ISS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0043129	Process	Surfactant homeostasis	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043589	Process	Skin morphogenesis	ISS
GO:0045055	Process	Regulated exocytosis	IMP	16007253
GO:0045616	Process	Regulation of keratinocyte differentiation	IEA
GO:0045616	Process	Regulation of keratinocyte differentiation	IMP	19179616, 20869849
GO:0045616	Process	Regulation of keratinocyte differentiation	ISS
GO:0048286	Process	Lung alveolus development	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055088	Process	Lipid homeostasis	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	ISS
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0061436	Process	Establishment of skin barrier	ISS
GO:0072659	Process	Protein localization to plasma membrane	IDA	23931754
GO:0072659	Process	Protein localization to plasma membrane	IMP	23931754
GO:0097209	Component	Epidermal lamellar body	IDA	16007253
GO:0097234	Component	Epidermal lamellar body membrane	IDA	17927575
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IEA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:2000010	Process	Positive regulation of protein localization to cell surface	IEA

MIM	HGNC	e!Ensembl
607800	14637	ENSG00000144452

Q86UK0

Protein name

Glucosylceramide transporter ABCA12 (EC 7.6.2.1) (ATP-binding cassette sub-family A member 12) (ATP-binding cassette transporter 12) (ATP-binding cassette 12)

Protein function

Transports lipids such as glucosylceramides from the outer to the inner leaflet of lamellar granules (LGs) membrane, whereby the lipids are finally transported to the keratinocyte periphery via the trans-Golgi network and LGs and released to the

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12698	ABC2_membrane_3	896 → 1270		Family
PF00005	ABC_tran	1361 → 1507	ABC transporter	Domain
PF12698	ABC2_membrane_3	1744 → 2203		Family
PF00005	ABC_tran	2273 → 2418	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in the stomach, placenta, testis and fetal brain (PubMed:12697999). Expressed in the upper epidermal layers, mainly the granular layers, of skin (PubMed:16007253, PubMed:17591952, PubMed:17927575). Expressed throughout

Sequence

MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITRTKFPPTAKPTCYLAPR
NLPSTGFFPFLQTLLCDTDSKCKDTPYGPQDLLRRKGIDDALFKDSEILRKSSNLDKDSS
LSFQSTQVPERRHASLATVFPSPSSDLEIPGTYTFNGSQVLARILGLEKLLKQNSTSEDI
RRELCDSYSGYIVDDAFSWTFLGRNVFNKFCLSNMTLLESSLQELNKQFSQLSSDPNNQK
IVFQEIVRMLSFFSQVQEQKAVWQLLSSFPNVFQNDTSLSNLFDVLRKANSVLLVVQKVY
PRFATNEGFRTLQKSVKHLLYTLDSPAQGDSDNITHVWNEDDGQTLSPSSLAAQLLILEN
FEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFP
PVPEVLKSKLSQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELG
TEIAASLLYHDNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNYLENITQLIPIIEAML
HVNNSADASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVF
WLHSCDTNITTPKLEDAMKEFCNLSLSERSRQSYLIGLTLLHYLNIYNFTYKVFFPRKDQ
KPVEKMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQG
SFSTISQALCSQGITTEYLTAMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPF
CFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQ
EWMDKSPLFMNSFHLLNQAIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILRLK
LENNIDIIDQLNTLSSLTVNISSCVLYDRIQAAKTIDEMEREAKRLYKSNELFGSVIFKL
PSNRSWHRGYDSGNVFLPPVIKYTIRMSLKTAQTTRSLRTKIWAPGPHNSPSHNQIYGRA
FIYLQDSIERAIIELQTGRNSQEIAVQVQAIPYPCFMKDNFLTSVSYSLPIVLMVAWVVF
IAAFVKKLVYEKDLRLHEYMKMMGVNSCSHFFAWLIESVGFLLVTIVILIIILKFGNILP
KTNGFILFLYFSDYSFSVIAMSYLISVFFNNTNIAALIGSLIYIIAFFPFIVLVTVENEL
SYVLKVFMSLLSPTAFSYASQYIARYEEQGIGLQWENMYTSPVQDDTTSFGWLCCLILAD
SFIYFLIAWYVRNVFPGTYGMAAPWYFPILPSYWKERFGCAEVKPEKSNGLMFTNIMMQN
TNPSASPEYMFSSNIEPEPKDLTVGVALHGVTKIYGSKVAVDNLNLNFYEGHITSLLGPN
GAGKTTTISMLTGLFGASAGTIFVYGKDIKTDLHTVRKNMGVCMQHDVLFSYLTTKEHLL
LYGSIKVPHWTKKQLHEEVKRTLKDTGLYSHRHKRVGTLSGGMKRKLSISIALIGGSRVV
ILDEPSTGVDPCSRRSIWDVISKNKTARTIILSTHHLDEAEVLSDRIAFLEQGGLRCCGS
PFYLKEAFGDGYHLTLTKKKSPNLNANAVCDTMAVTAMIQSHLPEAYLKEDIGGELVYVL
PPFSTKVSGAYLSLLRALDNGMGDLNIGCYGISDTTVEEVFLNLTKESQKNSAMSLEHLT
QKKIGNSNANGISTPDDLSVSSSNFTDRDDKILTRGERLDGFGLLLKKIMAILIKRFHHT
RRNWKGLIAQVILPIVFVTTAMGLGTLRNSSNSYPEIQISPSLYGTSEQTAFYANYHPST
EALVSAMWDFPGIDNMCLNTSDLQCLNKDSLEKWNTSGEPITNFGVCSCSENVQECPKFN
YSPPHRRTYSSQVIYNLTGQRVENYLISTANEFVQKRYGGWSFGLPLTKDLRFDITGVPA
NRTLAKVWYDPEGYHSLPAYLNSLNNFLLRVNMSKYDAARHGIIMYSHPYPGVQDQEQAT
ISSLIDILVALSILMGYSVTTASFVTYVVREHQTKAKQLQHISGIGVTCYWVTNFIYDMV
FYLVPVAFSIGIIAIFKLPAFYSENNLGAVSLLLLLFGYATFSWMYLLAGLFHETGMAFI
TYVCVNLFFGINSIVSLSVVYFLSKEKPNDPTLELISETLKRIFLIFPQFCFGYGLIELS
QQQSVLDFLKAYGVEYPNETFEMNKLGAMFVALVSQGTMFFSLRLLINESLIKKLRLFFR
KFNSSHVRETIDEDEDVRAERLRVESGAAEFDLVQLYCLTKTYQLIHKKIIAVNNISIGI
PAGECFGLLGVNGAGKTTIFKMLTGDIIPSSGNILIRNKTGSLGHVDSHSSLVGYCPQED
ALDDLVTVEEHLYFYARVHGIPEKDIKETVHKLLRRLHLMPFKDRATSMCSYGTKRKLST
ALALIGKPSILLLDEPSSGMDPKSKRHLWKIISEEVQNKCSVILTSHSMEECEALCTRLA
IMVNGKFQCIGSLQHIKSRFGRGFTVKVHLKNNKVTMETLTKFMQLHFPKTYLKDQHLSM
LEYHVPVTAGGVANIFDLLETNKTALNITNFLVSQTTLEEVFINFAKDQKSYETADTSSQ
GSTISVDSQDDQMES

Sequence length

2595

Interactions

View interactions

	KEGG		Reactome
	ABC transporters		ABC transporters in lipid homeostasis Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ABCA12-related disorder	Likely pathogenic; Pathogenic	rs28940270, rs755391236	RCV003407261 RCV005869191	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the skin	Likely pathogenic	rs2105992974	RCV001814550	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive congenital ichthyosis 4A	Likely pathogenic; Pathogenic	rs769753487, rs2105992974, rs1452228678, rs1457513156, rs1266760446, rs28940268, rs28940269, rs28940568, rs28940270, rs387906284, rs137853289, rs375437551, rs1699869352, rs763481375, rs757520757 View all (14 more)	RCV005021873 RCV003327520 RCV003448419 RCV002052243 RCV002052258 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive congenital ichthyosis 4B	Likely pathogenic; Pathogenic	rs769753487, rs1452228678, rs80181772, rs2105917562, rs28940269, rs28940568, rs387906284, rs387906285, rs137853289, rs267606622, rs375437551, rs1699869352, rs114863111, rs763481375, rs757520757 View all (18 more)	RCV003238176 RCV003229060 RCV002248367 RCV002260529 RCV000763068 View all (28 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Pathogenic	rs375437551	RCV005930673	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lamellar ichthyosis	Pathogenic; Likely pathogenic	rs1458824013, rs375702318, rs1266760446, rs28940270, rs137853289, rs2469221207, rs2469146553, rs757520757, rs762065937, rs780940154, rs199503269, rs761068277	RCV002266049 RCV004801109 RCV004801139 RCV004782003 RCV003317028 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (24)

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.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ichthyosiform erythroderma	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL ICHTHYOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ichthyosis of skin	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICHTHYOSES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LAMELLAR ICHTHYOSIS, TYPE 2	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (85)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	15980630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18802465, 23931754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18802465, 23931754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26820484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cicatricial ectropion	Cicatricial ectropion	BEFREE	31586585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34039366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Collodion Fetus	Congenital Ichthyosis	CTD_human_DG	16675967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33428592	Associate	★★★★★ ★☆☆☆☆ 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, 20672373, 21816950, 22257947, 22299640, 23689228, 23954554, 25338618, 27061915, 27381714, 27769845, 31206590, 31568573, 31586585		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ichthyosis	Congenital Ichthyosis	CTD_human_DG	16675967		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital non-bullous ichthyosiform erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	LHGDN	12915478, 16007253, 16902423		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	16675967, 20672373, 22257947, 22299640, 25338618, 27061915, 27381714, 30916489, 31206590, 31586585		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	CTD_human_DG	16675967		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	ORPHANET_DG	18284401, 19262603, 22257947, 22739337		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal erosion	Corneal erosion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	15756637, 30066947, 30925591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	29880184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	BEFREE	27061915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26820484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia Variabilis	Erythrokeratodermia variabilis	Pubtator	37762265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	15756637, 15996518, 16007253, 16481150, 16675967, 16847209, 17082782, 17684380, 18262308, 18341575, 18632686, 18802465, 19179616, 19664001, 20489143 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	CTD_human_DG	16675967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	ORPHANET_DG	19179616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin ichthyosis	Harlequin Ichthyosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin type ichthyosis	Ichthyosis	UNIPROT_DG	16675967, 16902423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin type ichthyosis	Ichthyosis	ORPHANET_DG	19179616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin type ichthyosis	Ichthyosis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin type ichthyosis	Ichthyosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin type ichthyosis	Ichthyosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	18632686, 31586585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	35964051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	16007253, 21816950, 22257947, 23689228, 23954554, 27769845, 30600594, 31568573		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosiform Erythroderma Congenital	Congenital ichthyosiform erythroderma	Pubtator	24612573, 30916489, 36980989, 37752865, 38576105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	LHGDN	17508018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	20672373, 22257947, 22299640, 23954554, 25338618, 27061915, 27381714, 30916489, 31206590, 31586585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	16007253, 23689228, 27025581, 30916489, 31046801, 34039366, 34983512, 37752865, 37762265, 38576105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Congenita I	Ichthyosis Congenita	CTD_human_DG	16675967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Congenita II	Ichthyosis Congenita	CTD_human_DG	16675967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	15756637, 16007253, 16675967, 16902423, 17611579, 19179616, 19429679, 24612573, 29298786, 29630152, 29880184, 30600594, 30916489, 32544098, 34039366 View all (4 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Pubtator	34983512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	BEFREE	30066947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis	Lamellar ichthyosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lamellar ichthyosis type 2	Lamellar ichthyosis	Pubtator	16007253	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis type 3	Lamellar ichthyosis	Pubtator	25338618, 29630152, 30600594, 34983512, 36980989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis, type 2	Lamellar ichthyosis	BEFREE	12915478, 16007253		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lamellar ichthyosis, type 2	Lamellar ichthyosis	UNIPROT_DG	12915478, 17508018, 18284401, 19262603, 22257947		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lamellar ichthyosis, type 2	Lamellar ichthyosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lamellar ichthyosis, type 2	Lamellar ichthyosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lamellar ichthyosis, type 2	Lamellar ichthyosis	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema	Lymphedema	Pubtator	35964051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17508018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nevus comedonicus	Nevus comedonicus	BEFREE	30066947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	15996518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	16540294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	15756637, 16902423, 17611579, 19429679, 34039366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31512786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37932340	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25921176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCA12 (ATP binding cassette subfamily A member 12)