FANCL (FA complementation group L)

Gene

• Entrez ID: 55120
• Gene name: FA complementation group L
• Gene symbol: FANCL
• Synonyms (NCBI Gene): FAAP43, PHF9, POG
• Chromosome: 2
• Chromosome location: 2p16.1
• Summary: This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144729980	C>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs753105795	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant, intron variant
rs761039364	G>-,GG	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs779544327	TT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs869320684	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs869320685	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs878855046	ACCAGAAGCATCT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1205006300	C>A	Likely-pathogenic	Splice donor variant, intron variant
rs1558741321	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT727691	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727690	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT727688	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727689	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727687	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT2530840	hsa-miR-3161	CLIP-seq
MIRT2530841	hsa-miR-4775	CLIP-seq
MIRT2530842	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	22343915
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	16916645, 19111657
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	ISS
GO:0005515	Function	Protein binding	IPI	24389026, 25416956, 32296183, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	16916645
GO:0006513	Process	Protein monoubiquitination	IBA
GO:0006513	Process	Protein monoubiquitination	IDA	16916645, 24389026
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	16916645
GO:0007276	Process	Gamete generation	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16916645, 17938197, 19111657
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 22343915
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	19589784
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

Other IDs

• MIM: 608111
• HGNC: 20748
• e!Ensembl: ENSG00000115392

Protein

• UniProt ID: Q9NW38
• Protein name: E3 ubiquitin-protein ligase FANCL (EC 2.3.2.27) (Fanconi anemia group L protein) (Fanconi anemia-associated polypeptide of 43 kDa) (FAAP43) (RING-type E3 ubiquitin transferase FANCL)
• Protein function: Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitin
• PDB: 3ZQS, 4CCG, 7KZP, 7KZQ, 7KZR, 7KZS, 7KZT, 7KZV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09765	FANCL_d1	5 → 93	FANCL UBC-like domain 1	Domain
  PF18890	FANCL_d2	108 → 197	FANCL UBC-like domain 2	Domain
  PF18891	FANCL_d3	199 → 295	FANCL UBC-like domain 3	Domain
  PF11793	FANCL_C	303 → 371	FANCL C-terminal domain	Domain

• Sequence:

  MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLR
  TILSGYHRIVQQRMQHSPDLMSFMMELKMLLEVALKNRQELYALPPPPQFYSSLIEEIGT
  LGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPAESPDYFVDFPVPFCASWTPQ
  SSLISIYSQFLAAIESLKAFWDVMDEIDEKTWVLEPEKPPRSATARRIALGNNVSINIEV
  DPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPARAILEK
  SDFTMDCGICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECP
  YCSKPITLKMSGRKH

• Sequence length: 375

Pathways

KEGG:

Fanconi anemia pathway
Ubiquitin mediated proteolysis

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
FANCL-related disorder	Likely pathogenic	rs2466610093	RCV003406179	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia	Likely pathogenic; Pathogenic	rs750871999, rs768814501, rs1558735946, rs1490932431, rs1191111879, rs772037896, rs1196510455, rs2104783888, rs2105148069, rs1423411761, rs1693048371, rs779587713, rs1204245665, rs1386476396, rs2467657340, rs2467426584, rs869320684, rs869320685, rs771742741, rs2466659020, rs2466658232, rs2466606027, rs2466548552, rs878855046, rs2104795249, rs763615183, rs1684909842, rs1462659024, rs933913059, rs2466549385, rs1685876126, rs2467111921, rs2467183138, rs529201454, rs2467183164, rs765022740, rs2467548016, rs2467484485, rs1245585990, rs2467484660, rs2467653249, rs2466548605, rs2467183415, rs935920468, rs2466549886, rs2466654822, rs2466653166, rs1174029388, rs2466606700, rs2467426348, rs2466618395, rs775664760, rs542395849, rs1482973840, rs1234421819, rs1173663404, rs1035067325, rs764407713, rs1685166989, rs1553435610, rs753105795, rs1558737575, rs761039364, rs144729980, rs1205006300, rs1558727300, rs761291501, rs756487177, rs1685514075, rs577063114, rs1689679880, rs1694527909	RCV005408836 RCV001377977 RCV001384023 RCV001390762 RCV003635972 RCV003635974 RCV001919910 RCV002009693 RCV001889720 RCV001983048 RCV002256968 RCV002282910 RCV002612477 RCV002647442 RCV003117124 RCV002676578 RCV002790386 RCV002814331 RCV001388973 RCV001857678 RCV002862042 RCV002871725 RCV002970673 RCV003005679 RCV003042113 RCV000232991 RCV003636035 RCV003636036 RCV005100166 RCV003523190 RCV003779033 RCV003636037 RCV003636038 RCV003523967 RCV003524285 RCV003635910 RCV003522183 RCV003525005 RCV003525080 RCV003525171 RCV003525191 RCV003523738 RCV003522703 RCV003522639 RCV003524799 RCV003637280 RCV003637234 RCV003637348 RCV003637794 RCV003637863 RCV003637901 RCV003635544 RCV003635435 RCV003635618 RCV003635738 RCV003635604 RCV003635803 RCV003636561 RCV003636821 RCV003636848 RCV003858041 RCV003842829 RCV005101929 RCV000544104 RCV000630868 RCV000690372 RCV000697873 RCV000686056 RCV000705984 RCV000694144 RCV000686799 RCV001044015 RCV001069191 RCV001862686 RCV001381353 RCV001202568 RCV001205714 RCV001231987	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia complementation group A	Pathogenic	rs2104799592	RCV002227888	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group L	Likely pathogenic; Pathogenic	rs750871999, rs768814501, rs1490932431, rs2104799800, rs772037896, rs1693048371, rs2467657643, rs779587713, rs2467657340, rs869320684, rs869320685, rs771742741, rs2104795249, rs2466546655, rs1364312021, rs2466657254, rs1197542093, rs763615183, rs756590256, rs764186411, rs1684909842, rs1462659024, rs2466579807, rs756420413, rs933913059, rs2466549385, rs2467655463, rs2466620161, rs2466652883, rs1685876126, rs2467183138, rs529201454, rs1423411761, rs2466549886, rs1482973840, rs764407713, rs1685166989, rs774650533, rs2467425985, rs2466547807, rs1553435610, rs144729980, rs761291501, rs1553433429, rs1573518300, rs1685514075, rs577063114, rs761039364	RCV002504517 RCV003462954 RCV004570975 RCV001806294 RCV005032201 RCV003464431 RCV002283914 RCV003459763 RCV003465815 RCV000191022 RCV000191023 RCV005027986 RCV003461551 RCV003461552 RCV003461554 RCV003461555 RCV003468185 RCV003461556 RCV003461557 RCV003461558 RCV003461559 RCV003468186 RCV003468188 RCV003461560 RCV003461561 RCV003461562 RCV003461563 RCV003468189 RCV003461564 RCV003468190 RCV004574067 RCV000387483 RCV004574072 RCV004574283 RCV004573265 RCV004573356 RCV004576594 RCV004576595 RCV004576596 RCV004576597 RCV004576598 RCV003470721 RCV003459665 RCV001729683 RCV001000101 RCV001000102 RCV005029685 RCV001195068 RCV002480759	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell lung carcinoma	Likely pathogenic	rs2467653249	RCV005931541	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VACTERL association, X-linked, with or without hydrocephalus	Likely pathogenic; Pathogenic	rs869320685	RCV001195065	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VATER association	Pathogenic	rs869320684	RCV001195063	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP L	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL/VATER ASSOCIATION	—	Disgenet	★★☆☆☆ 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	18607065		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	18607065, 2400810, 25987655		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	2400810, 25987655		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	30942098, 36894310	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	37327301	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	19737859		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19737859, 26822949		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	32091150	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32420600	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	29335925		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21543111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	21543111		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	2400810, 25987655		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35567913, 36356413	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	21279724	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21279724	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	12973351, 16116422, 16116424, 16474167, 16515849, 16720839, 17106252, 19405097, 21775430, 22828653, 25754594, 27473273, 27986371, 28419882, 28535027, 28678401, 29021208, 31513304, 31525021, 31666700		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	LHGDN	12973351		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CTD_human_DG	12973351, 19405097		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	CLINVAR_DG	12973351, 17938197, 19111657, 19405097, 23613520, 24389026, 27153395		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	15256425, 16720839, 17106252, 19129235, 19405097, 21279724, 23613520, 23783032, 26119737, 27986371, 28535027, 28678401, 31513304, 31525021, 32420600, 33727708	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	16474160, 19405097, 19686080, 25754594, 28297620		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	12973351, 16116422, 16116424, 16474167, 16515849, 16720839, 17106252, 19405097, 21775430, 22828653, 25754594, 27473273, 27986371, 28419882, 28535027, 28678401, 29021208, 31513304, 31525021		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	BEFREE	21775430, 29021208		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP L	Fanconi Anemia	GENOMICS_ENGLAND_DG	12724401, 16474160, 19405097, 19686080, 25754594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP L	Fanconi Anemia	CLINVAR_DG	19405097, 23613520, 25239263, 25659033, 27153395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP L	Fanconi Anemia	BEFREE	29021208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP L	Fanconi Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30306255	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18607065		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33893150	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10572083		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17106252		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26385482	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19737859, 26822949		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28678401, 30306255		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21543111		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10864050		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24885863, 29220676	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	37327301	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	19536649		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28678401	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28678401		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
VACTERL Association	VACTERL Association	BEFREE	25754594		★☆☆☆☆ Found in Text Mining only