ALOX12B (arachidonate 12-lipoxygenase, 12R type)

Gene

• Entrez ID: 242
• Gene name: Arachidonate 12-lipoxygenase, 12R type
• Gene symbol: ALOX12B
• Synonyms (NCBI Gene): 12R-LOX, ARCI2
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853023	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853024	G>T	Pathogenic	Coding sequence variant, missense variant
rs199545653	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs199766569	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906349	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397514526	G>A	Pathogenic	Coding sequence variant, missense variant
rs397514527	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs397514528	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514529	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514531	G>A	Pathogenic	Coding sequence variant, missense variant
rs397514532	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs746723399	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs750066836	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs752509098	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs780420901	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs936466427	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1028050037	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1567980596	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1567985231	A>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1555916	hsa-miR-3150a-3p	CLIP-seq
MIRT1555917	hsa-miR-3175	CLIP-seq
MIRT1555918	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004052	Function	Arachidonate 12(S)-lipoxygenase activity	IBA
GO:0004052	Function	Arachidonate 12(S)-lipoxygenase activity	IEA
GO:0004052	Function	Arachidonate 12(S)-lipoxygenase activity	IMP	15629692
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006497	Process	Protein lipidation	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IDA	21558561
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	22441738
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA	21558561
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0019369	Process	Arachidonate metabolic process	IBA
GO:0019369	Process	Arachidonate metabolic process	IEA
GO:0019369	Process	Arachidonate metabolic process	IMP	15629692
GO:0019369	Process	Arachidonate metabolic process	ISS
GO:0019372	Process	Lipoxygenase pathway	IBA
GO:0019372	Process	Lipoxygenase pathway	IDA	21558561
GO:0019372	Process	Lipoxygenase pathway	IMP	15629692
GO:0034440	Process	Lipid oxidation	IBA
GO:0034440	Process	Lipid oxidation	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	22441738
GO:0043651	Process	Linoleic acid metabolic process	IBA
GO:0043651	Process	Linoleic acid metabolic process	IEA
GO:0043651	Process	Linoleic acid metabolic process	ISS
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0046513	Process	Ceramide biosynthetic process	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0047677	Function	Arachidonate 8(R)-lipoxygenase activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	9837935
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051122	Process	Hepoxilin biosynthetic process	IBA
GO:0051122	Process	Hepoxilin biosynthetic process	ISS
GO:0051213	Function	Dioxygenase activity	IEA
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0061436	Process	Establishment of skin barrier	ISS
GO:0070257	Process	Positive regulation of mucus secretion	IMP	22441738
GO:0106237	Function	Arachidonate 12(R)-lipoxygenase activity	IEA
GO:1990136	Function	Linoleate 9S-lipoxygenase activity	IEA
GO:1990136	Function	Linoleate 9S-lipoxygenase activity	ISS

Other IDs

• MIM: 603741
• HGNC: 430
• e!Ensembl: ENSG00000179477

Protein

• UniProt ID: O75342
• Protein name: Arachidonate 12-lipoxygenase, 12R-type (12R-LOX) (12R-lipoxygenase) (EC 1.13.11.-) (Epidermis-type lipoxygenase 12)
• Protein function: Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01477	PLAT	4 → 114	PLAT/LH2 domain	Domain
  PF00305	Lipoxygenase	234 → 684	Lipoxygenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. {ECO:0000269|PubMed:9618483}.
• Sequence:

  MATYKVRVATGTDLLSGTRDSISLTIVGTQGESHKQLLNHFGRDFATGAVGQYTVQCPQD
  LGELIIIRLHKERYAFFPKDPWYCNYVQICAPNGRIYHFPAYQWMDGYETLALREATGKT
  TADDSLPVLLEHRKEEIRAKQDFYHWRVFLPGLPSYVHIPSYRPPVRRHRNPNRPEWNGY
  IPGFPILINFKATKFLNLNLRYSFLKTASFFVRLGPMALAFKVRGLLDCKHSWKRLKDIR
  KIFPGKKSVVSEYVAEHWAEDTFFGYQYLNGVNPGLIRRCTRIPDKFPVTDDMVAPFLGE
  GTCLQAELEKGNIYLADYRIMEGIPTVELSGRKQHHCAPLCLLHFGPEGKMMPIAIQLSQ
  TPGPDCPIFLPSDSEWDWLLAKTWVRYAEFYSHEAIAHLLETHLIAEAFCLALLRNLPMC
  HPLYKLLIPHTRYTVQINSIGRAVLLNEGGLSAKGMSLGVEGFAGVMVRALSELTYDSLY
  LPNDFVERGVQDLPGYYYRDDSLAVWNALEKYVTEIITYYYPSDAAVEGDPELQSWVQEI
  FKECLLGRESSGFPRCLRTVPELIRYVTIVIYTCSAKHAAVNTGQMEFTAWMPNFPASMR
  NPPIQTKGLTTLETFMDTLPDVKTTCITLLVLWTLSREPDDRRPLGHFPDIHFVEEAPRR
  SIEAFRQRLNQISHDIRQRNKCLPIPYYYLDPVLIENSISI

• Sequence length: 701

Pathways

KEGG:

Arachidonic acid metabolism
Metabolic pathways
Serotonergic synapse

Reactome:

Synthesis of 12-eicosatetraenoic acid derivatives

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ALOX12B-related disorder	Likely pathogenic; Pathogenic	rs2507707263, rs763468558	RCV003397856 RCV003405498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive congenital ichthyosis 2	Likely pathogenic; Pathogenic	rs532842455, rs759653224, rs2151820983, rs745366046, rs199545653, rs387906349, rs137853023, rs137853024, rs752509098, rs1478989829, rs959284348, rs202128350, rs1555643304, rs775524204, rs397514526, rs397514527, rs397514528, rs397514529, rs1598181810, rs397514532, rs199766569, rs397514533, rs1567980596, rs746723399, rs1028050037, rs1567985231, rs1567985261, rs1598181642, rs760428119, rs1333287390, rs763328506, rs1977007859, rs1482844053, rs1977008620, rs1977008747, rs1977008879, rs1977009175, rs1977009324, rs1977009717, rs1230917852, rs1977010880, rs1977011690, rs1398340320, rs1977016035, rs1977016836, rs1977016973, rs773052129, rs1977018125, rs1977018643, rs1360781582, rs1977027551, rs1977027733, rs1567980597, rs1977028665, rs1977028854, rs201543289, rs371537819, rs1977061578, rs1364754878, rs1977062849, rs1977066082, rs763468558, rs1977079083, rs774958790, rs1977090006, rs1977091512, rs774333332, rs1977099347, rs1977100621, rs752176414, rs759484732, rs1977104461, rs1977105578, rs1598180319, rs1977156997, rs1977157245, rs1202860455, rs1285636957, rs1977160664, rs1977161156, rs1977168456, rs1977169495, rs1977170208, rs1308351316, rs1977171852, rs1302782570, rs1977172596, rs1977184377, rs1977185603, rs1977196635, rs1356373737, rs780867565, rs1977208852, rs138503921, rs536446862, rs1978296625, rs1256507861, rs1978296717, rs1978297341, rs1978297429, rs1978297441, rs1978304609, rs201575829, rs1978304974, rs1978305028, rs147784568	RCV001730123 RCV005023403 RCV005016729 RCV002052067 RCV000193750 RCV000006455 RCV000006456 RCV000006457 RCV001289939 RCV005030353 RCV005027475 RCV001289950 RCV000504018 RCV000504373 RCV000032736 RCV000032737 RCV000032738 RCV000032739 RCV000032742 RCV000032743 RCV000032744 RCV000032745 RCV000782410 RCV000782413 RCV000782407 RCV000782406 RCV000782411 RCV000989745 RCV001289945 RCV001262494 RCV001262748 RCV001289932 RCV001289964 RCV001289963 RCV001289517 RCV001289927 RCV001289926 RCV001289508 RCV001289935 RCV001289532 RCV001289962 RCV001289923 RCV001289512 RCV001289961 RCV001289940 RCV001289966 RCV001289936 RCV001289960 RCV001289937 RCV001289965 RCV001289526 RCV001289928 RCV001289930 RCV001289933 RCV001289924 RCV001289527 RCV001289507 RCV001289533 RCV001289931 RCV001289518 RCV001289925 RCV001289516 RCV001289523 RCV001289952 RCV001289956 RCV001289530 RCV001289510 RCV001289531 RCV001289947 RCV001289944 RCV001289535 RCV001289949 RCV001289946 RCV001289943 RCV001289942 RCV001289918 RCV001289528 RCV001289941 RCV001289917 RCV001289916 RCV001289981 RCV001289519 RCV001289972 RCV001289506 RCV001289968 RCV001289973 RCV001289971 RCV001289969 RCV001289979 RCV001289536 RCV001289520 RCV001289976 RCV001289975 RCV001289524 RCV001289974 RCV001289938 RCV001289934 RCV001289515 RCV001289959 RCV001289534 RCV001289529 RCV001289967 RCV001289922 RCV001289951 RCV001289514 RCV001289980 RCV001289970 RCV001289978 RCV001289982	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital ichthyosiform erythroderma	Likely pathogenic; Pathogenic	rs397514532	RCV000626762	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital nonbullous ichthyosiform erythroderma	Likely pathogenic; Pathogenic	rs397514532	RCV000626762	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis	Pathogenic	rs199766569	RCV000414880	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis and erythrokeratoderma	Likely pathogenic; Pathogenic	rs199545653	RCV006249371	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lamellar ichthyosis	Likely pathogenic; Pathogenic	rs2151820983, rs1336771064, rs752509098, rs397514532, rs199766569, rs1567982673, rs763328506, rs763468558, rs1977099347, rs752176414, rs1977208852, rs201575829	RCV002282629 RCV002510317 RCV003155138 RCV002509181 RCV002222361 RCV003226390 RCV003226454 RCV002222692 RCV003492244 RCV004699274 RCV002265978 RCV002509651	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive congenital ichthyosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICHTHYOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Palmoplantar keratodermas	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	39501396	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	37478211	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19170196		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24070899	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Collodion Fetus	Congenital Ichthyosis	CTD_human_DG	21739938		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	30258081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	15629692, 16116617, 17139268, 18086569, 19131948, 26298204, 31168818		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	CTD_human_DG	21739938		★☆☆☆☆ 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	ORPHANET_DG	12780701, 16792775, 18347291, 22739337		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	16116617, 17139268, 18086569, 18347291, 19131948		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	CTD_human_DG	21739938		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	30575130		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	17164140		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	30575130		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	LHGDN	18347291		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	CTD_human_DG	21739938		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	BEFREE	17139268		★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	15629692, 16116617, 18086569, 26298204, 31168818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosiform Erythroderma Congenital	Congenital ichthyosiform erythroderma	Pubtator	17139268	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	LHGDN	11773004, 15629692		★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	16116617, 17139268, 19131948, 20222929		★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	27025581, 37040911	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis Congenita I	Ichthyosis Congenita	CTD_human_DG	21739938		★☆☆☆☆ Found in Text Mining only
Ichthyosis Congenita II	Ichthyosis Congenita	CTD_human_DG	21739938		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2	Ichthyosis with hypotrichosis	UNIPROT_DG	11773004, 15629692, 16116617, 19131948, 19890349		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2	Ichthyosis with hypotrichosis	CLINVAR_DG	16116617, 17139268, 19131948, 19890349, 20222929, 26762237		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2	Ichthyosis with hypotrichosis	GENOMICS_ENGLAND_DG	16116617		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	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
Lamellar ichthyosis	Lamellar ichthyosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lamellar ichthyosis type 3	Lamellar ichthyosis	Pubtator	17139268, 19131948, 22622417, 36854483	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19170196	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19170196		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	33338886	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	30258081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	30258081		★☆☆☆☆ Found in Text Mining only
Self-Healing Collodion Baby	Self-Healing Collodion Baby	ORPHANET_DG	19890349		★☆☆☆☆ Found in Text Mining only
Self-improving collodion baby	Self-Healing Collodion Baby	Orphanet			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	22936986	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24070899		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35768785	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	CTD_human_DG	30258081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40217479	Associate	★☆☆☆☆ Found in Text Mining only