ABCB5 (ATP binding cassette subfamily B member 5)

Gene

• Entrez ID: 340273
• Gene name: ATP binding cassette subfamily B member 5
• Gene symbol: ABCB5
• Synonyms (NCBI Gene): ABCB5alpha, ABCB5beta, EST422562
• Chromosome: 7
• Chromosome location: 7p21.1
• Summary: ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to m

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023509	hsa-miR-1-3p	Microarray	18668037
MIRT631256	hsa-miR-580-5p	HITS-CLIP	23824327
MIRT631255	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT631254	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT631253	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT631252	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT631251	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT631250	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT631249	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT631248	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT631247	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631246	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT631245	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT631244	hsa-miR-4284	HITS-CLIP	23824327
MIRT631243	hsa-miR-4792	HITS-CLIP	23824327
MIRT631242	hsa-miR-4710	HITS-CLIP	23824327
MIRT631241	hsa-miR-3671	HITS-CLIP	23824327
MIRT631240	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT631239	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT631238	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT631237	hsa-miR-7855-5p	HITS-CLIP	23824327
MIRT631236	hsa-miR-607	HITS-CLIP	23824327
MIRT631235	hsa-miR-4676-5p	HITS-CLIP	23824327
MIRT441601	hsa-miR-4311	PAR-CLIP	22291592
MIRT441600	hsa-miR-100-3p	PAR-CLIP	22291592
MIRT441599	hsa-miR-330-3p	PAR-CLIP	22291592
MIRT441597	hsa-miR-4480	PAR-CLIP	22291592
MIRT441598	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT441601	hsa-miR-4311	PAR-CLIP	22291592
MIRT441600	hsa-miR-100-3p	PAR-CLIP	22291592
MIRT441599	hsa-miR-330-3p	PAR-CLIP	22291592
MIRT441597	hsa-miR-4480	PAR-CLIP	22291592
MIRT441598	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT441601	hsa-miR-4311	PAR-CLIP	23708386
MIRT441600	hsa-miR-100-3p	PAR-CLIP	23708386
MIRT441599	hsa-miR-330-3p	PAR-CLIP	23708386
MIRT441597	hsa-miR-4480	PAR-CLIP	23708386
MIRT441598	hsa-miR-192-3p	PAR-CLIP	23708386
MIRT441601	hsa-miR-4311	PAR-CLIP	22100165
MIRT441600	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT441599	hsa-miR-330-3p	PAR-CLIP	22100165
MIRT441597	hsa-miR-4480	PAR-CLIP	22100165
MIRT441598	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT441601	hsa-miR-4311	PAR-CLIP	22100165
MIRT441600	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT441599	hsa-miR-330-3p	PAR-CLIP	22100165
MIRT441597	hsa-miR-4480	PAR-CLIP	22100165
MIRT441598	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT631256	hsa-miR-580-5p	HITS-CLIP	23824327
MIRT631255	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT631254	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT631253	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT631252	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT631251	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT631250	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT631249	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT631248	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT631247	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631246	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT631245	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT631244	hsa-miR-4284	HITS-CLIP	23824327
MIRT631243	hsa-miR-4792	HITS-CLIP	23824327
MIRT631242	hsa-miR-4710	HITS-CLIP	23824327
MIRT631241	hsa-miR-3671	HITS-CLIP	23824327
MIRT631240	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT631239	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT631238	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT631237	hsa-miR-7855-5p	HITS-CLIP	23824327
MIRT631236	hsa-miR-607	HITS-CLIP	23824327
MIRT631235	hsa-miR-4676-5p	HITS-CLIP	23824327
MIRT441601	hsa-miR-4311	PAR-CLIP	22291592
MIRT441600	hsa-miR-100-3p	PAR-CLIP	22291592
MIRT441599	hsa-miR-330-3p	PAR-CLIP	22291592
MIRT441597	hsa-miR-4480	PAR-CLIP	22291592
MIRT441598	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT441601	hsa-miR-4311	PAR-CLIP	22291592
MIRT441600	hsa-miR-100-3p	PAR-CLIP	22291592
MIRT441599	hsa-miR-330-3p	PAR-CLIP	22291592
MIRT441597	hsa-miR-4480	PAR-CLIP	22291592
MIRT441598	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT441601	hsa-miR-4311	PAR-CLIP	23708386
MIRT441600	hsa-miR-100-3p	PAR-CLIP	23708386
MIRT441599	hsa-miR-330-3p	PAR-CLIP	23708386
MIRT441597	hsa-miR-4480	PAR-CLIP	23708386
MIRT441598	hsa-miR-192-3p	PAR-CLIP	23708386
MIRT441601	hsa-miR-4311	PAR-CLIP	22100165
MIRT441600	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT441599	hsa-miR-330-3p	PAR-CLIP	22100165
MIRT441597	hsa-miR-4480	PAR-CLIP	22100165
MIRT441598	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT441601	hsa-miR-4311	PAR-CLIP	22100165
MIRT441600	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT441599	hsa-miR-330-3p	PAR-CLIP	22100165
MIRT441597	hsa-miR-4480	PAR-CLIP	22100165
MIRT441598	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT758135	hsa-miR-105	CLIP-seq
MIRT758136	hsa-miR-1228	CLIP-seq
MIRT758137	hsa-miR-1305	CLIP-seq
MIRT758138	hsa-miR-3122	CLIP-seq
MIRT758139	hsa-miR-3138	CLIP-seq
MIRT758140	hsa-miR-3622a-3p	CLIP-seq
MIRT758141	hsa-miR-3622b-3p	CLIP-seq
MIRT758142	hsa-miR-3662	CLIP-seq
MIRT758143	hsa-miR-3672	CLIP-seq
MIRT758144	hsa-miR-3689a-3p	CLIP-seq
MIRT758145	hsa-miR-3689c	CLIP-seq
MIRT758146	hsa-miR-3913-5p	CLIP-seq
MIRT758147	hsa-miR-3973	CLIP-seq
MIRT758148	hsa-miR-4433	CLIP-seq
MIRT758149	hsa-miR-4459	CLIP-seq
MIRT758150	hsa-miR-4470	CLIP-seq
MIRT758151	hsa-miR-4519	CLIP-seq
MIRT758152	hsa-miR-4684-5p	CLIP-seq
MIRT758153	hsa-miR-4728-5p	CLIP-seq
MIRT758154	hsa-miR-4768-3p	CLIP-seq
MIRT758155	hsa-miR-4786-5p	CLIP-seq
MIRT758156	hsa-miR-498	CLIP-seq
MIRT758157	hsa-miR-505	CLIP-seq
MIRT758158	hsa-miR-518a-5p	CLIP-seq
MIRT758159	hsa-miR-527	CLIP-seq
MIRT758160	hsa-miR-541	CLIP-seq
MIRT758161	hsa-miR-544b	CLIP-seq
MIRT758162	hsa-miR-548a-5p	CLIP-seq
MIRT758163	hsa-miR-548ab	CLIP-seq
MIRT758164	hsa-miR-548ak	CLIP-seq
MIRT758165	hsa-miR-548b-5p	CLIP-seq
MIRT758166	hsa-miR-548c-3p	CLIP-seq
MIRT758167	hsa-miR-548c-5p	CLIP-seq
MIRT758168	hsa-miR-548d-5p	CLIP-seq
MIRT758169	hsa-miR-548h	CLIP-seq
MIRT758170	hsa-miR-548i	CLIP-seq
MIRT758171	hsa-miR-548j	CLIP-seq
MIRT758172	hsa-miR-548w	CLIP-seq
MIRT758173	hsa-miR-548y	CLIP-seq
MIRT758174	hsa-miR-559	CLIP-seq
MIRT758175	hsa-miR-593	CLIP-seq
MIRT758176	hsa-miR-654-5p	CLIP-seq
MIRT758177	hsa-miR-769-5p	CLIP-seq
MIRT758178	hsa-miR-1277	CLIP-seq
MIRT758179	hsa-miR-3529	CLIP-seq
MIRT758180	hsa-miR-379	CLIP-seq
MIRT758181	hsa-miR-3935	CLIP-seq
MIRT758182	hsa-miR-4451	CLIP-seq
MIRT758183	hsa-miR-4536	CLIP-seq
MIRT758184	hsa-miR-4650-3p	CLIP-seq
MIRT758185	hsa-miR-648	CLIP-seq
MIRT758186	hsa-miR-1245	CLIP-seq
MIRT758187	hsa-miR-197	CLIP-seq
MIRT758188	hsa-miR-3187-3p	CLIP-seq
MIRT758189	hsa-miR-3663-5p	CLIP-seq
MIRT758190	hsa-miR-4435	CLIP-seq
MIRT758191	hsa-miR-4701-5p	CLIP-seq
MIRT758192	hsa-miR-4716-5p	CLIP-seq
MIRT758193	hsa-miR-4755-3p	CLIP-seq
MIRT758194	hsa-miR-4781-3p	CLIP-seq
MIRT758195	hsa-miR-483-5p	CLIP-seq
MIRT758196	hsa-miR-5096	CLIP-seq
MIRT758197	hsa-miR-548s	CLIP-seq
MIRT758198	hsa-miR-588	CLIP-seq
MIRT758138	hsa-miR-3122	CLIP-seq
MIRT758140	hsa-miR-3622a-3p	CLIP-seq
MIRT758141	hsa-miR-3622b-3p	CLIP-seq
MIRT758143	hsa-miR-3672	CLIP-seq
MIRT758144	hsa-miR-3689a-3p	CLIP-seq
MIRT758145	hsa-miR-3689c	CLIP-seq
MIRT758146	hsa-miR-3913-5p	CLIP-seq
MIRT758148	hsa-miR-4433	CLIP-seq
MIRT758149	hsa-miR-4459	CLIP-seq
MIRT758153	hsa-miR-4728-5p	CLIP-seq
MIRT758154	hsa-miR-4768-3p	CLIP-seq
MIRT758160	hsa-miR-541	CLIP-seq
MIRT758161	hsa-miR-544b	CLIP-seq
MIRT758176	hsa-miR-654-5p	CLIP-seq
MIRT2425878	hsa-miR-1237	CLIP-seq
MIRT2425879	hsa-miR-1248	CLIP-seq
MIRT2425880	hsa-miR-362-5p	CLIP-seq
MIRT2425881	hsa-miR-3713	CLIP-seq
MIRT2425882	hsa-miR-4251	CLIP-seq
MIRT2425883	hsa-miR-4329	CLIP-seq
MIRT758192	hsa-miR-4716-5p	CLIP-seq
MIRT2425884	hsa-miR-500b	CLIP-seq
MIRT2425885	hsa-miR-501-5p	CLIP-seq
MIRT2425886	hsa-miR-580	CLIP-seq
MIRT2425880	hsa-miR-362-5p	CLIP-seq
MIRT2425881	hsa-miR-3713	CLIP-seq
MIRT2425882	hsa-miR-4251	CLIP-seq
MIRT2425883	hsa-miR-4329	CLIP-seq
MIRT758192	hsa-miR-4716-5p	CLIP-seq
MIRT2425884	hsa-miR-500b	CLIP-seq
MIRT2425885	hsa-miR-501-5p	CLIP-seq
MIRT2425886	hsa-miR-580	CLIP-seq
MIRT2425880	hsa-miR-362-5p	CLIP-seq
MIRT2425881	hsa-miR-3713	CLIP-seq
MIRT2425882	hsa-miR-4251	CLIP-seq
MIRT2425883	hsa-miR-4329	CLIP-seq
MIRT758192	hsa-miR-4716-5p	CLIP-seq
MIRT2425884	hsa-miR-500b	CLIP-seq
MIRT2425885	hsa-miR-501-5p	CLIP-seq
MIRT2425886	hsa-miR-580	CLIP-seq
MIRT758136	hsa-miR-1228	CLIP-seq
MIRT758138	hsa-miR-3122	CLIP-seq
MIRT758140	hsa-miR-3622a-3p	CLIP-seq
MIRT758141	hsa-miR-3622b-3p	CLIP-seq
MIRT758144	hsa-miR-3689a-3p	CLIP-seq
MIRT758145	hsa-miR-3689c	CLIP-seq
MIRT758146	hsa-miR-3913-5p	CLIP-seq
MIRT758148	hsa-miR-4433	CLIP-seq
MIRT2442909	hsa-miR-4455	CLIP-seq
MIRT758149	hsa-miR-4459	CLIP-seq
MIRT758150	hsa-miR-4470	CLIP-seq
MIRT758152	hsa-miR-4684-5p	CLIP-seq
MIRT758153	hsa-miR-4728-5p	CLIP-seq
MIRT758154	hsa-miR-4768-3p	CLIP-seq
MIRT758155	hsa-miR-4786-5p	CLIP-seq
MIRT758157	hsa-miR-505	CLIP-seq
MIRT758160	hsa-miR-541	CLIP-seq
MIRT758161	hsa-miR-544b	CLIP-seq
MIRT758166	hsa-miR-548c-3p	CLIP-seq
MIRT758175	hsa-miR-593	CLIP-seq
MIRT2442910	hsa-miR-609	CLIP-seq
MIRT758176	hsa-miR-654-5p	CLIP-seq
MIRT758177	hsa-miR-769-5p	CLIP-seq
MIRT758136	hsa-miR-1228	CLIP-seq
MIRT758138	hsa-miR-3122	CLIP-seq
MIRT2467025	hsa-miR-338-5p	CLIP-seq
MIRT758140	hsa-miR-3622a-3p	CLIP-seq
MIRT758141	hsa-miR-3622b-3p	CLIP-seq
MIRT758143	hsa-miR-3672	CLIP-seq
MIRT758144	hsa-miR-3689a-3p	CLIP-seq
MIRT758145	hsa-miR-3689c	CLIP-seq
MIRT758146	hsa-miR-3913-5p	CLIP-seq
MIRT758148	hsa-miR-4433	CLIP-seq
MIRT2442909	hsa-miR-4455	CLIP-seq
MIRT758149	hsa-miR-4459	CLIP-seq
MIRT758150	hsa-miR-4470	CLIP-seq
MIRT2467026	hsa-miR-4668-3p	CLIP-seq
MIRT758152	hsa-miR-4684-5p	CLIP-seq
MIRT758153	hsa-miR-4728-5p	CLIP-seq
MIRT758154	hsa-miR-4768-3p	CLIP-seq
MIRT758155	hsa-miR-4786-5p	CLIP-seq
MIRT758157	hsa-miR-505	CLIP-seq
MIRT758160	hsa-miR-541	CLIP-seq
MIRT758161	hsa-miR-544b	CLIP-seq
MIRT758166	hsa-miR-548c-3p	CLIP-seq
MIRT758175	hsa-miR-593	CLIP-seq
MIRT2442910	hsa-miR-609	CLIP-seq
MIRT758176	hsa-miR-654-5p	CLIP-seq
MIRT758177	hsa-miR-769-5p	CLIP-seq
MIRT758136	hsa-miR-1228	CLIP-seq
MIRT758138	hsa-miR-3122	CLIP-seq
MIRT758140	hsa-miR-3622a-3p	CLIP-seq
MIRT758141	hsa-miR-3622b-3p	CLIP-seq
MIRT758143	hsa-miR-3672	CLIP-seq
MIRT758144	hsa-miR-3689a-3p	CLIP-seq
MIRT758145	hsa-miR-3689c	CLIP-seq
MIRT758146	hsa-miR-3913-5p	CLIP-seq
MIRT758148	hsa-miR-4433	CLIP-seq
MIRT2442909	hsa-miR-4455	CLIP-seq
MIRT758149	hsa-miR-4459	CLIP-seq
MIRT758150	hsa-miR-4470	CLIP-seq
MIRT758152	hsa-miR-4684-5p	CLIP-seq
MIRT758153	hsa-miR-4728-5p	CLIP-seq
MIRT758154	hsa-miR-4768-3p	CLIP-seq
MIRT758155	hsa-miR-4786-5p	CLIP-seq
MIRT758157	hsa-miR-505	CLIP-seq
MIRT758160	hsa-miR-541	CLIP-seq
MIRT758161	hsa-miR-544b	CLIP-seq
MIRT758166	hsa-miR-548c-3p	CLIP-seq
MIRT758175	hsa-miR-593	CLIP-seq
MIRT2442910	hsa-miR-609	CLIP-seq
MIRT758176	hsa-miR-654-5p	CLIP-seq
MIRT758177	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IDA	12960149
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0008559	Function	ABC-type xenobiotic transporter activity	IEA
GO:0015562	Function	Efflux transmembrane transporter activity	IDA	12960149
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042391	Process	Regulation of membrane potential	IDA	12960149
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS
GO:0042908	Process	Xenobiotic transport	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IDA	12960149
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0140359	Function	ABC-type transporter activity	IEA

Other IDs

• MIM: 611785
• HGNC: 46
• e!Ensembl: ENSG00000004846

Protein

• UniProt ID: Q2M3G0
• Protein name: ATP-binding cassette sub-family B member 5 (ABCB5 P-gp) (P-glycoprotein ABCB5) (EC 7.6.2.2)
• Protein function: Energy-dependent efflux transporter responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:12960149, PubMed:15205344, PubMed:15899824, PubMed:22306008). Specifically present in limbal stem cells, where it plays a key ro
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	48 → 337	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	404 → 553	ABC transporter	Domain
  PF00664	ABC_membrane	692 → 966	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	1033 → 1184	ABC transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed by CD133-expressing progenitor cells among epidermal melanocytes (at protein level). Widely expressed with specific expression in pigment cells. Highly expressed in several malignant tissues: highly expressed in clinical mela
• Sequence:

  MENSERAEEMQENYQRNGTAEEQPKLRKEAVGSIEIFRFADGLDITLMILGILASLVNGA
  CLPLMPLVLGEMSDNLISGCLVQTNTTNYQNCTQSQEKLNEDMTLLTLYYVGIGVAALIF
  GYIQISLWIITAARQTKRIRKQFFHSVLAQDIGWFDSCDIGELNTRMTDDIDKISDGIGD
  KIALLFQNMSTFSIGLAVGLVKGWKLTLVTLSTSPLIMASAAACSRMVISLTSKELSAYS
  KAGAVAEEVLSSIRTVIAFRAQEKELQRYTQNLKDAKDFGIKRTIASKVSLGAVYFFMNG
  TYGLAFWYGTSLILNGEPGYTIGTVLAVFFSVIHSSYCIGAAVPHFETFAIARGAAFHIF
  QVIDKKPSIDNFSTAGYKPESIEGTVEFKNVSFNYPSRPSIKILKGLNLRIKSGETVALV
  GLNGSGKSTVVQLLQRLYDPDDGFIMVDENDIRALNVRHYRDHIGVVSQEPVLFGTTISN
  NIKYGRDDVTDEEMERAAREANAYDFIMEFPNKFNTLVGEKGAQMSGGQKQRIAIARALV
  RNPKILILDEATSALDSESKSAVQAALEKASKGRTTIVVAHRLSTIRSADLIVTLKDGML
  AEKGAHAELMAKRGLYYSLVMSQDIKKADEQMESMTYSTERKTNSLPLHSVKSIKSDFID
  KAEESTQSKEISLPEVSLLKILKLNKPEWPFVVLGTLASVLNGTVHPVFSIIFAKIITMF
  GNNDKTTLKHDAEIYSMIFVILGVICFVSYFMQGLFYGRAGEILTMRLRHLAFKAMLYQD
  IAWFDEKENSTGGLTTILAIDIAQIQGATGSRIGVLTQNATNMGLSVIISFIYGWEMTFL
  ILSIAPVLAVTGMIETAAMTGFANKDKQELKHAGKIATEALENIRTIVSLTREKAFEQMY
  EEMLQTQHRNTSKKAQIIGSCYAFSHAFIYFAYAAGFRFGAYLIQAGRMTPEGMFIVFTA
  IAYGAMAIGETLVLAPEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEGNLEFREV
  SFFYPCRPDVFILRGLSLSIERGKTVAFVGSSGCGKSTSVQLLQRLYDPVQGQVLFDGVD
  AKELNVQWLRSQIAIVPQEPVLFNCSIAENIAYGDNSRVVPLDEIKEAANAANIHSFIEG
  LPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATSALDNDSEKVVQHALDK
  ARTGRTCLVVTHRLSAIQNADLIVVLHNGKIKEQGTHQELLRNRDIYFKLVNAQSVQ

• Sequence length: 1257

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	22044138		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	22044138		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22044138		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	33115496	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28281973, 28677036		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20649952, 28281973, 28677036, 29552773	Associate	★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract	BEFREE	25406294		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	22044138		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22044138		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	20682318		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26043974		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29789423		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33759959	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	21840005		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	29929490		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	25815591		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	25815591		★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	28892093		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	BEFREE	12364545		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22044138, 31053105		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22044138		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20682318, 22110214, 30413348		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	20682318		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22044138		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28281973, 28677036		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	25815591		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	20682318		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22865455, 23770371, 24525737, 27286705, 28281973, 28704989, 28940439, 29789423, 30905807, 30941990, 31053105		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26043974		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15760339, 15899824, 18202660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	15760339, 22555176, 23192276, 23770371, 25105565, 25115303, 25223735, 25703167, 25830652, 27560924, 28293855, 28677036, 28704989, 29929490, 30383985, 30905807, 30941990, 31053105, 32157095, 33338742, 34830300, 36373310, 37958830	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	15899824, 18328422, 21212411, 22286766, 22675422, 22865455, 23355370, 23752306, 23770371, 24525737, 24595456, 26554847, 28704989, 28821433, 28940439, 29929490, 30769764, 30905807, 30941990, 31053105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	15899824		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	31035967	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	26827764		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	31107974		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24916532		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22675422, 30941990		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22044138		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	22044138		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15899824, 18202660, 21212411, 22675422, 22865455, 23770371, 24556122, 26827764, 28940439, 29789423, 30406781, 30905807, 31132750		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23221702		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	20950786	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33090395	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	18936737	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	31053105		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	31053105	Stimulate	★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	26092729	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36790659	Associate	★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	12364545		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	33207860	Associate	★☆☆☆☆ Found in Text Mining only