FAN1 (FANCD2 and FANCI associated nuclease 1)

Gene

• Entrez ID: 22909
• Gene name: FANCD2 and FANCI associated nuclease 1
• Gene symbol: FAN1
• Synonyms (NCBI Gene): KIAA1018, KMIN, MTMR15, hFAN1
• Chromosome: 15
• Chromosome location: 15q13.3
• Summary: This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5` flap endonuclease and 5`-3` exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encodin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs761988851	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs767435461	T>A	Pathogenic	Intron variant, splice donor variant
rs774499986	GT>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs778075842	C>G,T	Pathogenic	Intron variant, coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant, missense variant
rs781134478	T>G	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1305708707	G>A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT036619	hsa-miR-940	CLASH	23622248
MIRT988920	hsa-miR-3616-5p	CLIP-seq
MIRT988921	hsa-miR-3647-5p	CLIP-seq
MIRT988922	hsa-miR-548c-3p	CLIP-seq
MIRT988923	hsa-miR-573	CLIP-seq
MIRT988924	hsa-miR-1183	CLIP-seq
MIRT988925	hsa-miR-1297	CLIP-seq
MIRT988926	hsa-miR-26a	CLIP-seq
MIRT988927	hsa-miR-26b	CLIP-seq
MIRT988928	hsa-miR-300	CLIP-seq
MIRT988929	hsa-miR-381	CLIP-seq
MIRT988930	hsa-miR-4465	CLIP-seq
MIRT988931	hsa-miR-4666-3p	CLIP-seq
MIRT988932	hsa-miR-4705	CLIP-seq
MIRT988924	hsa-miR-1183	CLIP-seq
MIRT988925	hsa-miR-1297	CLIP-seq
MIRT988926	hsa-miR-26a	CLIP-seq
MIRT988927	hsa-miR-26b	CLIP-seq
MIRT988928	hsa-miR-300	CLIP-seq
MIRT988929	hsa-miR-381	CLIP-seq
MIRT988930	hsa-miR-4465	CLIP-seq
MIRT988931	hsa-miR-4666-3p	CLIP-seq
MIRT988932	hsa-miR-4705	CLIP-seq
MIRT1993025	hsa-miR-513c	CLIP-seq
MIRT1993026	hsa-miR-514b-5p	CLIP-seq
MIRT2226965	hsa-miR-186	CLIP-seq
MIRT2226966	hsa-miR-25	CLIP-seq
MIRT2226967	hsa-miR-32	CLIP-seq
MIRT2226968	hsa-miR-363	CLIP-seq
MIRT2226969	hsa-miR-367	CLIP-seq
MIRT2226970	hsa-miR-4645-5p	CLIP-seq
MIRT2226971	hsa-miR-4673	CLIP-seq
MIRT2226972	hsa-miR-92a	CLIP-seq
MIRT2226973	hsa-miR-92b	CLIP-seq
MIRT988924	hsa-miR-1183	CLIP-seq
MIRT988925	hsa-miR-1297	CLIP-seq
MIRT988926	hsa-miR-26a	CLIP-seq
MIRT988927	hsa-miR-26b	CLIP-seq
MIRT988928	hsa-miR-300	CLIP-seq
MIRT988929	hsa-miR-381	CLIP-seq
MIRT988930	hsa-miR-4465	CLIP-seq
MIRT988931	hsa-miR-4666-3p	CLIP-seq
MIRT988932	hsa-miR-4705	CLIP-seq
MIRT2530777	hsa-miR-1343	CLIP-seq
MIRT2530778	hsa-miR-181a	CLIP-seq
MIRT2530779	hsa-miR-181b	CLIP-seq
MIRT2530780	hsa-miR-181c	CLIP-seq
MIRT2530781	hsa-miR-181d	CLIP-seq
MIRT2530782	hsa-miR-194	CLIP-seq
MIRT2530783	hsa-miR-196a	CLIP-seq
MIRT2530784	hsa-miR-196b	CLIP-seq
MIRT2530785	hsa-miR-3135	CLIP-seq
MIRT2530786	hsa-miR-3143	CLIP-seq
MIRT2530787	hsa-miR-3152-5p	CLIP-seq
MIRT2530788	hsa-miR-3927	CLIP-seq
MIRT2530789	hsa-miR-4262	CLIP-seq
MIRT2530790	hsa-miR-4289	CLIP-seq
MIRT2530791	hsa-miR-4451	CLIP-seq
MIRT2530792	hsa-miR-4649-3p	CLIP-seq
MIRT2530793	hsa-miR-4774-3p	CLIP-seq
MIRT2530794	hsa-miR-4789-3p	CLIP-seq
MIRT2530795	hsa-miR-505	CLIP-seq
MIRT2530796	hsa-miR-543	CLIP-seq
MIRT2530797	hsa-miR-548t	CLIP-seq
MIRT2530798	hsa-miR-664	CLIP-seq
MIRT2530799	hsa-miR-802	CLIP-seq
MIRT2530777	hsa-miR-1343	CLIP-seq
MIRT2530778	hsa-miR-181a	CLIP-seq
MIRT2530779	hsa-miR-181b	CLIP-seq
MIRT2530780	hsa-miR-181c	CLIP-seq
MIRT2530781	hsa-miR-181d	CLIP-seq
MIRT2530786	hsa-miR-3143	CLIP-seq
MIRT2530787	hsa-miR-3152-5p	CLIP-seq
MIRT2530789	hsa-miR-4262	CLIP-seq
MIRT2680760	hsa-miR-4264	CLIP-seq
MIRT2530790	hsa-miR-4289	CLIP-seq
MIRT2680761	hsa-miR-4324	CLIP-seq
MIRT2530792	hsa-miR-4649-3p	CLIP-seq
MIRT2680762	hsa-miR-4693-3p	CLIP-seq
MIRT2530793	hsa-miR-4774-3p	CLIP-seq
MIRT2680763	hsa-miR-4797-3p	CLIP-seq
MIRT2530796	hsa-miR-543	CLIP-seq
MIRT2530798	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	TAS	20603016
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	20603015, 20603016
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0004528	Function	Phosphodiesterase I activity	IEA
GO:0005515	Function	Protein binding	IPI	20603015, 20603016, 20603073
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20603015, 20603016, 20603073
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005929	Component	Cilium	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	20603073
GO:0006289	Process	Nucleotide-excision repair	IDA	20603015, 25430771
GO:0006289	Process	Nucleotide-excision repair	IMP	20603016
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008409	Function	5'-3' exonuclease activity	IBA
GO:0008409	Function	5'-3' exonuclease activity	IDA	20603015, 20603016, 20603073, 24981866, 25430771
GO:0008409	Function	5'-3' exonuclease activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IEA
GO:0017108	Function	5'-flap endonuclease activity	IBA
GO:0017108	Function	5'-flap endonuclease activity	IDA	20603015, 20603016, 20603073, 24981866
GO:0036297	Process	Interstrand cross-link repair	IBA
GO:0036297	Process	Interstrand cross-link repair	IDA	25430771
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0070336	Function	Flap-structured DNA binding	IBA
GO:0070336	Function	Flap-structured DNA binding	IDA	25430771
GO:0140036	Function	Ubiquitin-modified protein reader activity	IDA	20603015, 20603016

Other IDs

• MIM: 613534
• HGNC: 29170
• e!Ensembl: ENSG00000198690

Protein

• UniProt ID: Q9Y2M0
• Protein name: Fanconi-associated nuclease 1 (EC 3.1.21.-) (EC 3.1.4.1) (FANCD2/FANCI-associated nuclease 1) (hFAN1) (Myotubularin-related protein 15)
• Protein function: Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombinatio
• PDB: 4REA, 4REB, 4REC, 4RI8, 4RI9, 4RIA, 4RIB, 4RIC, 4RID, 4RY3, 8S5A, 9CG4, 9CHM, 9CL7, 9CMA, 9EO1, 9EOA, 9GY0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08774	VRR_NUC	893 → 1008	VRR-NUC domain	Domain

• Sequence:

  MMSEGKPPDKKRPRRSLSISKNKKKASNSIISCFNNAPPAKLACPVCSKMVPRYDLNRHL
  DEMCANNDFVQVDPGQVGLINSNVSMVDLTSVTLEDVTPKKSPPPKTNLTPGQSDSAKRE
  VKQKISPYFKSNDVVCKNQDELRNRSVKVICLGSLASKLSRKYVKAKKSIDKDEEFAGSS
  PQSSKSTVVKSLIDNSSEIEDEDQILENSSQKENVFKCDSLKEECIPEHMVRGSKIMEAE
  SQKATRECEKSALTPGFSDNAIMLFSPDFTLRNTLKSTSEDSLVKQECIKEVVEKREACH
  CEEVKMTVASEAKIQLSDSEAKSHSSADDASAWSNIQEAPLQDDSCLNNDIPHSIPLEQG
  SSCNGPGQTTGHPYYLRSFLVVLKTVLENEDDMLLFDEQEKGIVTKFYQLSATGQKLYVR
  LFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSAPELKSL
  AKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRAKALAGQSVRICKG
  PRAVFSRILLLFSLTDSMEDEDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRD
  DLIRYAAATHMLSDISSAMANGNWEEAKELAQCAKRDWNRLKNHPSLRCHEDLPLFLRCF
  TVGWIYTRILSRFVEILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALNLHQHLK
  RLEPTIKCITEGLADPEVRTGHRLSLYQRAVRLRESPSCKKFKHLFQQLPEMAVQDVKHV
  TITGRLCPQRGMCKSVFVMEAGEAADPTTVLCSVEELALAHYRRSGFDQGIHGEGSTFST
  LYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDSFFTSRRPALEARLQLIHDAPEESLRA
  WVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGGPVLSGVCRHLAADFRHCRGGLPD
  LVVWNSQSRHFKLVEVKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS

• Sequence length: 1017

Pathways

KEGG:

Fanconi anemia pathway

Reactome:

Fanconi Anemia Pathway

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
FAN1-related disorder	Likely pathogenic; Pathogenic	rs144469584, rs387907279	RCV003421140 RCV004751230	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Karyomegalic interstitial nephritis	Likely pathogenic; Pathogenic	rs2140895653, rs2140913969, rs767651793, rs199845994, rs748666715, rs144469584, rs746677293, rs774499986, rs778075842, rs750056424, rs953653119, rs767435461, rs1566921085, rs387907279, rs1305708707, rs765970053, rs387907280, rs761988851, rs758406790, rs2062351829	RCV001536087 RCV001536108 RCV001849664 RCV005010902 RCV005356161 RCV005012942 RCV004584571 RCV002496868 RCV000500635 RCV000501496 RCV000030741 RCV000030742 RCV000030743 RCV000030744 RCV000030746 RCV000030747 RCV000030748 RCV002497330 RCV001267760 RCV001251484	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney failure	Likely pathogenic; Pathogenic	rs761988851	RCV005626297	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY NONPOLYPOSIS COLON CANCER	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRIGLYCERIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL NEPHRITIS, KARYOMEGALIC	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agnosia	Agnosia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24344280	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24344280		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	24344280		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24344280	Associate	★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21858661		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24072219	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	33832503	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiac diverticulum	Cardiac Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GENOMICS_ENGLAND_DG	22772369		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27196444		★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINGEN_DG	20603016, 20603073, 26052075, 26797144		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26052075, 27713038		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35181726	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	20603073, 20713514, 21115814, 21605559, 22101340, 22611161, 22772369, 29051491, 29514982, 31360198		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	22611161, 29051491, 33832503	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	20603073, 20713514, 21115814, 21605559, 22101340, 22611161, 22772369, 29051491, 29514982, 31360198		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	33326660	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINGEN_DG	20603016, 20603073, 26052075, 26797144		★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG	20603016, 20603073, 26052075, 26797144		★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	ORPHANET_DG	26052075		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG	20603016, 20603073, 26052075, 26797144		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	ORPHANET_DG	26052075		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG	20603016, 20603073, 26052075, 26797144		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	27044000, 31587151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington disease	Pubtator	27044000, 32589923, 32898862, 35379994, 38607933	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	GWASCAT_DG	29750799		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL NEPHRITIS, KARYOMEGALIC	Interstitial Nephritis	GENOMICS_ENGLAND_DG	16678356, 22772369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL NEPHRITIS, KARYOMEGALIC	Interstitial Nephritis	BEFREE	22772369, 29051491, 31655823		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL NEPHRITIS, KARYOMEGALIC	Interstitial Nephritis	UNIPROT_DG	22772369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL NEPHRITIS, KARYOMEGALIC	Interstitial Nephritis	ORPHANET_DG	22772369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL NEPHRITIS, KARYOMEGALIC	Interstitial Nephritis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL NEPHRITIS, KARYOMEGALIC	Interstitial Nephritis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Karyomegalic interstitial nephritis	Karyomegalic Interstitial Nephritis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lynch syndrome	Lynch Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21858661		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21858661, 26052075, 29051491		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Megalocytic interstitial nephritis	Megalocytic Interstitial Nephritis	CTD_human_DG	22772369		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasm of skeletal system	Neoplasm of skeletal system	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26052075, 29051491		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	29051491	Associate	★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	GENOMICS_ENGLAND_DG	22772369		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	27196444		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	27196444		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26546047	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	22772369		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24344280, 27244233		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	24344280, 27244233	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	27044000	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only