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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57599
Gene name	WD repeat domain 48
Gene symbol	WDR48
Synonyms (NCBI Gene)	Bun62P80SPG60UAF1
Chromosome	3
Chromosome location	3p22.2
Summary	The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated

229

Show/Hide all (229)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051598	hsa-let-7e-5p	CLASH	23622248
MIRT044190	hsa-miR-99b-5p	CLASH	23622248
MIRT1490813	hsa-miR-1305	CLIP-seq
MIRT1490814	hsa-miR-147	CLIP-seq
MIRT1490815	hsa-miR-2053	CLIP-seq
MIRT1490816	hsa-miR-3121-5p	CLIP-seq
MIRT1490817	hsa-miR-3132	CLIP-seq
MIRT1490818	hsa-miR-3202	CLIP-seq
MIRT1490819	hsa-miR-3668	CLIP-seq
MIRT1490820	hsa-miR-3911	CLIP-seq
MIRT1490821	hsa-miR-3915	CLIP-seq
MIRT1490822	hsa-miR-3928	CLIP-seq
MIRT1490823	hsa-miR-3935	CLIP-seq
MIRT1490824	hsa-miR-3974	CLIP-seq
MIRT1490825	hsa-miR-4476	CLIP-seq
MIRT1490826	hsa-miR-4506	CLIP-seq
MIRT1490827	hsa-miR-4797-5p	CLIP-seq
MIRT1490828	hsa-miR-494	CLIP-seq
MIRT1490829	hsa-miR-548v	CLIP-seq
MIRT1490830	hsa-miR-569	CLIP-seq
MIRT1490831	hsa-miR-574-5p	CLIP-seq
MIRT1490832	hsa-miR-577	CLIP-seq
MIRT1490833	hsa-miR-593	CLIP-seq
MIRT1490834	hsa-miR-644	CLIP-seq
MIRT1490835	hsa-miR-759	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2147939	hsa-miR-3173-3p	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2147941	hsa-miR-4738-3p	CLIP-seq
MIRT1490828	hsa-miR-494	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2368383	hsa-miR-4643	CLIP-seq
MIRT2368384	hsa-miR-466	CLIP-seq
MIRT2368385	hsa-miR-4717-3p	CLIP-seq
MIRT2368386	hsa-miR-4789-3p	CLIP-seq
MIRT2368387	hsa-miR-4802-3p	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2368388	hsa-miR-516a-3p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2396951	hsa-miR-3924	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2466333	hsa-miR-132	CLIP-seq
MIRT2466334	hsa-miR-212	CLIP-seq
MIRT2466335	hsa-miR-3136-3p	CLIP-seq
MIRT2466336	hsa-miR-3691-3p	CLIP-seq
MIRT2466337	hsa-miR-455-3p	CLIP-seq
MIRT2466338	hsa-miR-4709-5p	CLIP-seq
MIRT2662022	hsa-miR-103a	CLIP-seq
MIRT2662023	hsa-miR-107	CLIP-seq
MIRT2662024	hsa-miR-128	CLIP-seq
MIRT1490813	hsa-miR-1305	CLIP-seq
MIRT2466333	hsa-miR-132	CLIP-seq
MIRT2662025	hsa-miR-1587	CLIP-seq
MIRT2466334	hsa-miR-212	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2662026	hsa-miR-302a	CLIP-seq
MIRT2662027	hsa-miR-302b	CLIP-seq
MIRT2662028	hsa-miR-302c	CLIP-seq
MIRT2662029	hsa-miR-302d	CLIP-seq
MIRT2662030	hsa-miR-302e	CLIP-seq
MIRT2662031	hsa-miR-3064-3p	CLIP-seq
MIRT2662032	hsa-miR-3065-3p	CLIP-seq
MIRT2662033	hsa-miR-3130-3p	CLIP-seq
MIRT2466335	hsa-miR-3136-3p	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2662034	hsa-miR-3170	CLIP-seq
MIRT1490818	hsa-miR-3202	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2662035	hsa-miR-338-3p	CLIP-seq
MIRT2662036	hsa-miR-3622b-5p	CLIP-seq
MIRT2662037	hsa-miR-3654	CLIP-seq
MIRT2662038	hsa-miR-3685	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT2466336	hsa-miR-3691-3p	CLIP-seq
MIRT2662039	hsa-miR-372	CLIP-seq
MIRT2662040	hsa-miR-373	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1490821	hsa-miR-3915	CLIP-seq
MIRT2662041	hsa-miR-3921	CLIP-seq
MIRT1490822	hsa-miR-3928	CLIP-seq
MIRT2662042	hsa-miR-3944-5p	CLIP-seq
MIRT2662043	hsa-miR-421	CLIP-seq
MIRT2662044	hsa-miR-4292	CLIP-seq
MIRT2662045	hsa-miR-4308	CLIP-seq
MIRT2662046	hsa-miR-4315	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1490825	hsa-miR-4476	CLIP-seq
MIRT2662047	hsa-miR-4492	CLIP-seq
MIRT2662048	hsa-miR-4498	CLIP-seq
MIRT2662049	hsa-miR-451b	CLIP-seq
MIRT2662050	hsa-miR-4530	CLIP-seq
MIRT2662051	hsa-miR-4533	CLIP-seq
MIRT2466337	hsa-miR-455-3p	CLIP-seq
MIRT2662052	hsa-miR-4638-3p	CLIP-seq
MIRT2662053	hsa-miR-4649-3p	CLIP-seq
MIRT2662054	hsa-miR-4653-5p	CLIP-seq
MIRT2662055	hsa-miR-4656	CLIP-seq
MIRT2662056	hsa-miR-4675	CLIP-seq
MIRT2466338	hsa-miR-4709-5p	CLIP-seq
MIRT2662057	hsa-miR-4715-3p	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT2147941	hsa-miR-4738-3p	CLIP-seq
MIRT2662058	hsa-miR-4741	CLIP-seq
MIRT2662059	hsa-miR-4790-5p	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2662060	hsa-miR-520a-3p	CLIP-seq
MIRT2662061	hsa-miR-520a-5p	CLIP-seq
MIRT2662062	hsa-miR-520b	CLIP-seq
MIRT2662063	hsa-miR-520c-3p	CLIP-seq
MIRT2662064	hsa-miR-520d-3p	CLIP-seq
MIRT2662065	hsa-miR-520e	CLIP-seq
MIRT2662066	hsa-miR-525-5p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2662067	hsa-miR-548a-3p	CLIP-seq
MIRT2662068	hsa-miR-548b-3p	CLIP-seq
MIRT2662069	hsa-miR-548e	CLIP-seq
MIRT2662070	hsa-miR-548f	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2662071	hsa-miR-599	CLIP-seq
MIRT2662072	hsa-miR-619	CLIP-seq
MIRT2662073	hsa-miR-640	CLIP-seq
MIRT2662074	hsa-miR-649	CLIP-seq
MIRT2662075	hsa-miR-762	CLIP-seq
MIRT2662076	hsa-miR-765	CLIP-seq
MIRT2662077	hsa-miR-767-3p	CLIP-seq
MIRT2662022	hsa-miR-103a	CLIP-seq
MIRT2662023	hsa-miR-107	CLIP-seq
MIRT2662024	hsa-miR-128	CLIP-seq
MIRT1490813	hsa-miR-1305	CLIP-seq
MIRT2466333	hsa-miR-132	CLIP-seq
MIRT2662025	hsa-miR-1587	CLIP-seq
MIRT2466334	hsa-miR-212	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2662026	hsa-miR-302a	CLIP-seq
MIRT2662027	hsa-miR-302b	CLIP-seq
MIRT2662028	hsa-miR-302c	CLIP-seq
MIRT2662029	hsa-miR-302d	CLIP-seq
MIRT2662030	hsa-miR-302e	CLIP-seq
MIRT2662031	hsa-miR-3064-3p	CLIP-seq
MIRT2662032	hsa-miR-3065-3p	CLIP-seq
MIRT2662033	hsa-miR-3130-3p	CLIP-seq
MIRT2466335	hsa-miR-3136-3p	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2662034	hsa-miR-3170	CLIP-seq
MIRT1490818	hsa-miR-3202	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2662035	hsa-miR-338-3p	CLIP-seq
MIRT2662036	hsa-miR-3622b-5p	CLIP-seq
MIRT2662037	hsa-miR-3654	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT2466336	hsa-miR-3691-3p	CLIP-seq
MIRT2662039	hsa-miR-372	CLIP-seq
MIRT2662040	hsa-miR-373	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1490821	hsa-miR-3915	CLIP-seq
MIRT2662041	hsa-miR-3921	CLIP-seq
MIRT1490822	hsa-miR-3928	CLIP-seq
MIRT2662042	hsa-miR-3944-5p	CLIP-seq
MIRT2662043	hsa-miR-421	CLIP-seq
MIRT2662044	hsa-miR-4292	CLIP-seq
MIRT2662045	hsa-miR-4308	CLIP-seq
MIRT2662046	hsa-miR-4315	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1490825	hsa-miR-4476	CLIP-seq
MIRT2662047	hsa-miR-4492	CLIP-seq
MIRT2662048	hsa-miR-4498	CLIP-seq
MIRT2662049	hsa-miR-451b	CLIP-seq
MIRT2662050	hsa-miR-4530	CLIP-seq
MIRT2466337	hsa-miR-455-3p	CLIP-seq
MIRT2662052	hsa-miR-4638-3p	CLIP-seq
MIRT2662053	hsa-miR-4649-3p	CLIP-seq
MIRT2662054	hsa-miR-4653-5p	CLIP-seq
MIRT2662055	hsa-miR-4656	CLIP-seq
MIRT2662056	hsa-miR-4675	CLIP-seq
MIRT2466338	hsa-miR-4709-5p	CLIP-seq
MIRT2662057	hsa-miR-4715-3p	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT2147941	hsa-miR-4738-3p	CLIP-seq
MIRT2662058	hsa-miR-4741	CLIP-seq
MIRT2662059	hsa-miR-4790-5p	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2662060	hsa-miR-520a-3p	CLIP-seq
MIRT2662061	hsa-miR-520a-5p	CLIP-seq
MIRT2662062	hsa-miR-520b	CLIP-seq
MIRT2662063	hsa-miR-520c-3p	CLIP-seq
MIRT2662064	hsa-miR-520d-3p	CLIP-seq
MIRT2662065	hsa-miR-520e	CLIP-seq
MIRT2662066	hsa-miR-525-5p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2662067	hsa-miR-548a-3p	CLIP-seq
MIRT2662068	hsa-miR-548b-3p	CLIP-seq
MIRT2662069	hsa-miR-548e	CLIP-seq
MIRT2662070	hsa-miR-548f	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2662071	hsa-miR-599	CLIP-seq
MIRT2662072	hsa-miR-619	CLIP-seq
MIRT2662073	hsa-miR-640	CLIP-seq
MIRT2662074	hsa-miR-649	CLIP-seq
MIRT2662075	hsa-miR-762	CLIP-seq
MIRT2662077	hsa-miR-767-3p	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0003677	Function	DNA binding	IDA	31253762
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	27239033
GO:0003697	Function	Single-stranded DNA binding	IDA	27239033
GO:0005515	Function	Protein binding	IPI	18082604, 19075014, 19615732, 24145035, 24981860, 26388029, 27239033, 27373336, 27463890, 27650958, 28514442, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	18082604
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	18032488
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IDA	27239033, 27463890
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	11972023
GO:0007283	Process	Spermatogenesis	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035800	Function	Deubiquitinase activator activity	IDA	18082604, 19075014, 24145035, 31253762
GO:0043130	Function	Ubiquitin binding	IBA
GO:0043588	Process	Skin development	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	37289831
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	37289831
GO:0048568	Process	Embryonic organ development	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060255	Process	Regulation of macromolecule metabolic process	IEA
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:1902525	Process	Regulation of protein monoubiquitination	IEA
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	27239033, 27463890

MIM	HGNC	e!Ensembl
612167	30914	ENSG00000114742

Q8TAF3

Protein name

WD repeat-containing protein 48 (USP1-associated factor 1) (WD repeat endosomal protein) (p80)

Protein function

Regulator of deubiquitinating complexes, which acts as a strong activator of USP1, USP12 and USP46 (PubMed:18082604, PubMed:19075014, PubMed:26388029, PubMed:31253762). Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost ina

PDB

5CVL , 5CVN , 5CVO , 5K1A , 5K1B , 5K1C , 5L8E , 5L8W , 6JLQ , 7AY0 , 7AY1 , 7AY2 , 8A9J , 8A9K , 9EBS , 9HNW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	66 → 103	WD domain, G-beta repeat	Repeat
PF00400	WD40	107 → 145	WD domain, G-beta repeat	Repeat
PF00400	WD40	158 → 196	WD domain, G-beta repeat	Repeat
PF00400	WD40	200 → 238	WD domain, G-beta repeat	Repeat
PF11816	DUF3337	509 → 674	Domain of unknown function (DUF3337)	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12196293}.

Sequence

MAAHHRQNTAGRRKVQVSYVIRDEVEKYNRNGVNALQLDPALNRLFTAGRDSIIRIWSVN
QHKQDPYIASMEHHTDWVNDIVLCCNGKTLISASSDTTVKVWNAHKGFCMSTLRTHKDYV
KALAYAKDKELVASAGLDRQIFLWDVNTLTALTASNNTVTTSSLSGNKDSIYSLAMNQLG
TIIVSGSTEKVLRVWDPRTCAKLMKLKGHTDNVKALLLNRDGTQCLSGSSDGTIRLWSLG
QQRCIATYRVHDEGVWALQVNDAFTHVYSGGRDRKIYCTDLRNPDIRVLICEEKAPVLKM
ELDRSADPPPAIWVATTKSTVNKWTLKGIHNFRASGDYDNDCTNPITPLCTQPDQVIKGG
ASIIQCHILNDKRHILTKDTNNNVAYWDVLKACKVEDLGKVDFEDEIKKRFKMVYVPNWF
SVDLKTGMLTITLDESDCFAAWVSAKDAGFSSPDGSDPKLNLGGLLLQALLEYWPRTHVN
PMDEEENEVNHVNGEQENRVQKGNGYFQVPPHTPVIFGEAGGRTLFRLLCRDSGGETESM
LLNETVPQWVIDITVDKNMPKFNKIPFYLQPHASSGAKTLKKDRLSASDMLQVRKVMEHV
YEKIINLDNESQTTSSSNNEKPGEQEKEEDIAVLAEEKIELLCQDQVLDPNMDLRTVKHF
IWKSGGDLTLHYRQKST

Sequence length

677

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		Recognition of DNA damage by PCNA-containing replication complex Ub-specific processing proteases Fanconi Anemia Pathway Signaling by cytosolic PDGFRA and PDGFRB fusion proteins

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 Unknown Diseases (10)

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	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 60	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WDR48-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	12218210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 60	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	30223388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36403194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	12218210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	8390539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24145035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24145035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	9561912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	7519075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	18082604, 24001775, 28544907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	18082604, 19075014, 20147737, 22118673, 30890612, 31253762, 32350107, 33795880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18082604, 24001775, 28544907		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	BEFREE	24001775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	11406658, 12218210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	26186006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	26186006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	12218210, 8547653, 8558920, 9021682, 9414185, 9449486		★★★★★ ★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	12218210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	7949120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	9449486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	12218210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30223388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26462181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25744535, 28302046, 30383889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	12218210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31589552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10549257, 24001775, 25744535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15026342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26462181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26462181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	12218210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	12218210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	GENOMICS_ENGLAND_DG	24482476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33461373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

WDR48 (WD repeat domain 48)