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

418

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ABCA12-related disorder	Likely pathogenic; Pathogenic	rs28940270, rs755391236	RCV003407261 RCV005869191
Abnormality of the skin	Likely pathogenic	rs2105992974	RCV001814550
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 RCV000002988 RCV000002989 RCV000002990 RCV000002991 RCV005025000 RCV001352680 RCV004796770 RCV004776457 RCV005025402 RCV004796133 RCV000678039 RCV003234864 RCV003328086 RCV003328090 RCV003328093 RCV005014769 RCV005014770 RCV005030179 RCV005030248 RCV005015007 RCV002502566 RCV000678036 RCV003448343 RCV005021166
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 RCV003988819 RCV000002993 RCV000002994 RCV000002996 RCV000002997 RCV004796770 RCV004776457 RCV003989509 RCV005025402 RCV004796133 RCV000056334 RCV003236704 RCV003337824 RCV005014769 RCV005014770 RCV005030179 RCV005030248 RCV005015007 RCV002502566 RCV000677681 RCV000494735 RCV000578204 RCV000754779 RCV005021166 RCV000782386 RCV000782417 RCV000782415 RCV000991372
Gastric cancer	Pathogenic	rs375437551	RCV005930673
Lamellar ichthyosis	Pathogenic; Likely pathogenic	rs1458824013, rs375702318, rs1266760446, rs28940270, rs137853289, rs2469221207, rs2469146553, rs757520757, rs762065937, rs780940154, rs199503269, rs761068277	RCV002266049 RCV004801109 RCV004801139 RCV004782003 RCV003317028 RCV003155765 RCV003226610 RCV004800366 RCV005895421 RCV005240822 RCV002231097 RCV005240565
See cases	Likely pathogenic	rs2106054066	RCV002252830

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs142625793, rs190613499	RCV005926420 RCV005906328
Cervical cancer	Likely benign	rs142625793, rs779139548	RCV005926421 RCV005934983
Congenital ichthyosiform erythroderma	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	rs568420119, rs139753893, rs535404027, rs71399158, rs574161259	RCV000385381 RCV000277151 RCV000297075 RCV000285776 RCV000385274
Congenital ichthyosis of skin	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs726070, rs114258385, rs11890468, rs16853149, rs149399707, rs11891778, rs145031776, rs10498027, rs16853022, rs34351934, rs71428357, rs10498030, rs7560008, rs10198064, rs76979001 View all (145 more)	RCV000293292 RCV001143645 RCV000401605 RCV000392011 RCV000300752 RCV000293566 RCV000400842 RCV000300175 RCV000271010 RCV000305663 RCV000331070 RCV000315754 RCV000319091 RCV000288434 RCV000310782 RCV001140217 RCV000347345 RCV000408318 RCV000354101 RCV000324777 RCV000315052 RCV000325161 RCV000293479 RCV000350990 RCV000335769 RCV000398633 RCV000362735 RCV000398359 RCV000378124 RCV000325100 RCV000335850 RCV000400739 RCV000308958 RCV000261604 RCV000319150 RCV000347015 RCV000350535 RCV000334955 RCV000303640 RCV000382053 RCV000389192 RCV000278342 RCV000300838 RCV000366001 RCV000369430 RCV000372818 RCV000345632 RCV000370841 RCV000317836 RCV000263711 RCV000290024 RCV000357987 RCV000376183 RCV000328460 RCV000406745 RCV000309010 RCV000277057 RCV000280665 RCV000341416 RCV000314403 RCV000356196 RCV000321224 RCV000382008 RCV000397743 RCV000350767 RCV000297205 RCV000345445 RCV000399077 RCV000365901 RCV000312320 RCV000369373 RCV000267300 RCV000381607 RCV000289530 RCV000393954 RCV000264825 RCV000360028 RCV000267641 RCV000339494 RCV000390344 RCV000273762 RCV000376104 RCV000284106 RCV000400405 RCV000367792 RCV000260319 RCV000286072 RCV001139546 RCV001137198 RCV001137305 RCV001143548 RCV001136975 RCV001143750 RCV001141721 RCV001139233 RCV001139548 RCV001140312 RCV001139547 RCV001136971 RCV001141722 RCV001141846 RCV001143436 RCV001136871 RCV001136872 RCV001136873 RCV001136874 RCV001139111 RCV001139112 RCV001139113 RCV001139114 RCV001141720 RCV001143544 RCV001143545 RCV001143546 RCV001136970 RCV001136972 RCV001136973 RCV001136974 RCV001136976 RCV001139230 RCV001139231 RCV001139232 RCV001141844 RCV001141845 RCV001143647 RCV001143648 RCV001137076 RCV001137078 RCV001137079 RCV001137080 RCV001139324 RCV001139325 RCV001139326 RCV001141946 RCV001141947 RCV001141948 RCV001143749 RCV001143752 RCV001137200 RCV001139441 RCV001139442 RCV001140216 RCV001142064 RCV001142065 RCV001137303 RCV001142152 RCV001142153 RCV001142154 RCV001142155 RCV001142156 RCV001143547 RCV001141847 RCV001141848 RCV001143646 RCV001137077 RCV001143751 RCV001137199 RCV001139440 RCV001140215 RCV001137304 RCV001140311
Familial cancer of breast	Benign; Uncertain significance	rs4610055, rs201877187	RCV005914953 RCV005913866
Familial pancreatic carcinoma	Benign	rs145031776	RCV005894334
Ovarian cancer	Benign; Likely benign	rs190613499	RCV005906329
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	rs145031776, rs200553166	RCV005894335 RCV005903105

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cataract and congenital ichthyosis	Associate	25338618, 30916489, 35964051, 38576105
Chanarin Dorfman Syndrome	Associate	37752865
Cognition Disorders	Associate	34039366
Colonic Neoplasms	Associate	33428592
Ear Diseases	Associate	29880184
Ectropion	Associate	29880184
Epithelial Squamous Dysplasia Keratinizing Desquamative of Urinary Tract	Associate	37752865
Erythema	Associate	31046801
Erythrokeratodermia Variabilis	Associate	37762265
Glut1 Deficiency Syndrome	Associate	19429679
Harlequin syndrome	Associate	31046801
Hypotrichosis	Associate	35964051
Ichthyosiform Erythroderma Congenital	Associate	24612573, 30916489, 36980989, 37752865, 38576105
Ichthyosis	Associate	16007253, 23689228, 27025581, 30916489, 31046801, 34039366, 34983512, 37752865, 37762265, 38576105
Ichthyosis Lamellar	Associate	15756637, 16007253, 16675967, 16902423, 17611579, 19179616, 19429679, 24612573, 29298786, 29630152, 29880184, 30600594, 30916489, 32544098, 34039366 View all (4 more)
Jagell Holmgren Hofer syndrome	Associate	31046801
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Associate	34983512
Lamellar ichthyosis type 2	Associate	16007253
Lamellar ichthyosis type 3	Associate	25338618, 29630152, 30600594, 34983512, 36980989
Li Fraumeni Syndrome	Associate	36980989
Lymphedema	Associate	35964051
Neoplasms Basal Cell	Associate	25921176
Netherton Syndrome	Associate	31046801
Nose Diseases	Associate	29880184
Pinheiro Freire Maia Miranda syndrome	Associate	34039366
Pityriasis Rubra Pilaris	Associate	37752865
Skin Diseases	Associate	15756637, 16902423, 17611579, 19429679, 34039366
Thyroid Neoplasms	Associate	37932340
Urinary Bladder Neoplasms	Associate	25921176

ABCA12 (ATP binding cassette subfamily A member 12)