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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2178
Gene name	FA complementation group E
Gene symbol	FANCE
Synonyms (NCBI Gene)	FACEFAE
Chromosome	6
Chromosome location	6p21.31
Summary	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FAN

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434505	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121434506	C>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs587778337	C>-,CC	Not-provided, pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs754850404	G>-	Likely-pathogenic	Initiator codon variant, coding sequence variant, non coding transcript variant, frameshift variant
rs763151358	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs878854342	G>A	Pathogenic	Intron variant
rs1581696699	T>C	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant

124

Show/Hide all (124)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016378	hsa-miR-193b-3p	Microarray	20304954
MIRT756240	hsa-miR-26a-5p	Luciferase reporter assayWestern blottingqRT-PCR	34804856
MIRT989060	hsa-miR-1254	CLIP-seq
MIRT989061	hsa-miR-1255a	CLIP-seq
MIRT989062	hsa-miR-1255b	CLIP-seq
MIRT989063	hsa-miR-1827	CLIP-seq
MIRT989064	hsa-miR-2467-3p	CLIP-seq
MIRT989065	hsa-miR-3116	CLIP-seq
MIRT989066	hsa-miR-3192	CLIP-seq
MIRT989067	hsa-miR-3612	CLIP-seq
MIRT989068	hsa-miR-3664-3p	CLIP-seq
MIRT989069	hsa-miR-3689a-3p	CLIP-seq
MIRT989070	hsa-miR-3689c	CLIP-seq
MIRT989071	hsa-miR-3929	CLIP-seq
MIRT989072	hsa-miR-3942-5p	CLIP-seq
MIRT989073	hsa-miR-4257	CLIP-seq
MIRT989074	hsa-miR-4419b	CLIP-seq
MIRT989075	hsa-miR-4433	CLIP-seq
MIRT989076	hsa-miR-4459	CLIP-seq
MIRT989077	hsa-miR-4478	CLIP-seq
MIRT989078	hsa-miR-4703-5p	CLIP-seq
MIRT989079	hsa-miR-4728-5p	CLIP-seq
MIRT989080	hsa-miR-4732-3p	CLIP-seq
MIRT989081	hsa-miR-4768-3p	CLIP-seq
MIRT989082	hsa-miR-4793-3p	CLIP-seq
MIRT989083	hsa-miR-485-5p	CLIP-seq
MIRT989084	hsa-miR-508-5p	CLIP-seq
MIRT989085	hsa-miR-582-5p	CLIP-seq
MIRT989086	hsa-miR-650	CLIP-seq
MIRT989087	hsa-miR-766	CLIP-seq
MIRT1993084	hsa-miR-1262	CLIP-seq
MIRT989063	hsa-miR-1827	CLIP-seq
MIRT1993085	hsa-miR-2114	CLIP-seq
MIRT1993086	hsa-miR-216a	CLIP-seq
MIRT989064	hsa-miR-2467-3p	CLIP-seq
MIRT989067	hsa-miR-3612	CLIP-seq
MIRT989069	hsa-miR-3689a-3p	CLIP-seq
MIRT989070	hsa-miR-3689c	CLIP-seq
MIRT989071	hsa-miR-3929	CLIP-seq
MIRT1993087	hsa-miR-3974	CLIP-seq
MIRT989073	hsa-miR-4257	CLIP-seq
MIRT989074	hsa-miR-4419b	CLIP-seq
MIRT989077	hsa-miR-4478	CLIP-seq
MIRT1993088	hsa-miR-4480	CLIP-seq
MIRT1993089	hsa-miR-4701-3p	CLIP-seq
MIRT989079	hsa-miR-4728-5p	CLIP-seq
MIRT989083	hsa-miR-485-5p	CLIP-seq
MIRT1993090	hsa-miR-493	CLIP-seq
MIRT989085	hsa-miR-582-5p	CLIP-seq
MIRT989086	hsa-miR-650	CLIP-seq
MIRT1993091	hsa-miR-890	CLIP-seq
MIRT989063	hsa-miR-1827	CLIP-seq
MIRT1993085	hsa-miR-2114	CLIP-seq
MIRT989064	hsa-miR-2467-3p	CLIP-seq
MIRT989066	hsa-miR-3192	CLIP-seq
MIRT989067	hsa-miR-3612	CLIP-seq
MIRT989069	hsa-miR-3689a-3p	CLIP-seq
MIRT989070	hsa-miR-3689c	CLIP-seq
MIRT989071	hsa-miR-3929	CLIP-seq
MIRT989073	hsa-miR-4257	CLIP-seq
MIRT989074	hsa-miR-4419b	CLIP-seq
MIRT989077	hsa-miR-4478	CLIP-seq
MIRT989079	hsa-miR-4728-5p	CLIP-seq
MIRT989083	hsa-miR-485-5p	CLIP-seq
MIRT989085	hsa-miR-582-5p	CLIP-seq
MIRT989086	hsa-miR-650	CLIP-seq
MIRT2227005	hsa-miR-661	CLIP-seq
MIRT1993091	hsa-miR-890	CLIP-seq
MIRT2530801	hsa-miR-1228	CLIP-seq
MIRT989060	hsa-miR-1254	CLIP-seq
MIRT1993084	hsa-miR-1262	CLIP-seq
MIRT2530802	hsa-miR-1283	CLIP-seq
MIRT1993086	hsa-miR-216a	CLIP-seq
MIRT989065	hsa-miR-3116	CLIP-seq
MIRT2530803	hsa-miR-338-3p	CLIP-seq
MIRT2530804	hsa-miR-3607-3p	CLIP-seq
MIRT2530805	hsa-miR-3613-3p	CLIP-seq
MIRT2530806	hsa-miR-3614-5p	CLIP-seq
MIRT2530807	hsa-miR-3646	CLIP-seq
MIRT989068	hsa-miR-3664-3p	CLIP-seq
MIRT2530808	hsa-miR-3670	CLIP-seq
MIRT2530809	hsa-miR-3714	CLIP-seq
MIRT2530810	hsa-miR-371-5p	CLIP-seq
MIRT2530811	hsa-miR-371b-5p	CLIP-seq
MIRT989072	hsa-miR-3942-5p	CLIP-seq
MIRT989075	hsa-miR-4433	CLIP-seq
MIRT989076	hsa-miR-4459	CLIP-seq
MIRT1993088	hsa-miR-4480	CLIP-seq
MIRT1993089	hsa-miR-4701-3p	CLIP-seq
MIRT989078	hsa-miR-4703-5p	CLIP-seq
MIRT2530812	hsa-miR-4724-3p	CLIP-seq
MIRT989080	hsa-miR-4732-3p	CLIP-seq
MIRT989081	hsa-miR-4768-3p	CLIP-seq
MIRT2530813	hsa-miR-4768-5p	CLIP-seq
MIRT2530814	hsa-miR-634	CLIP-seq
MIRT2530815	hsa-miR-656	CLIP-seq
MIRT2530816	hsa-miR-940	CLIP-seq
MIRT2530817	hsa-miR-942	CLIP-seq
MIRT2530801	hsa-miR-1228	CLIP-seq
MIRT1993084	hsa-miR-1262	CLIP-seq
MIRT1993086	hsa-miR-216a	CLIP-seq
MIRT2530803	hsa-miR-338-3p	CLIP-seq
MIRT2530804	hsa-miR-3607-3p	CLIP-seq
MIRT2530805	hsa-miR-3613-3p	CLIP-seq
MIRT2530806	hsa-miR-3614-5p	CLIP-seq
MIRT989068	hsa-miR-3664-3p	CLIP-seq
MIRT2530808	hsa-miR-3670	CLIP-seq
MIRT2530809	hsa-miR-3714	CLIP-seq
MIRT2530810	hsa-miR-371-5p	CLIP-seq
MIRT2530811	hsa-miR-371b-5p	CLIP-seq
MIRT989072	hsa-miR-3942-5p	CLIP-seq
MIRT989075	hsa-miR-4433	CLIP-seq
MIRT989076	hsa-miR-4459	CLIP-seq
MIRT1993088	hsa-miR-4480	CLIP-seq
MIRT1993089	hsa-miR-4701-3p	CLIP-seq
MIRT989078	hsa-miR-4703-5p	CLIP-seq
MIRT2530812	hsa-miR-4724-3p	CLIP-seq
MIRT989080	hsa-miR-4732-3p	CLIP-seq
MIRT989081	hsa-miR-4768-3p	CLIP-seq
MIRT2530813	hsa-miR-4768-5p	CLIP-seq
MIRT2530814	hsa-miR-634	CLIP-seq
MIRT2530815	hsa-miR-656	CLIP-seq
MIRT2530816	hsa-miR-940	CLIP-seq
MIRT2530817	hsa-miR-942	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	22343915
GO:0001541	Process	Ovarian follicle development	IEA
GO:0005515	Function	Protein binding	IPI	12649160, 33961781, 35512704
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11001585
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0010467	Process	Gene expression	IEA
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0043240	Component	Fanconi anaemia nuclear complex	IBA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 22266823
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915
GO:0048872	Process	Homeostasis of number of cells	IEA

MIM	HGNC	e!Ensembl
613976	3586	ENSG00000112039

Q9HB96

Protein name

Fanconi anemia group E protein (Protein FACE)

Protein function

As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. {ECO:0000269|PubMed:12093742, ECO:0000269|PubMed:172

PDB

2ILR , 7KZP , 7KZQ , 7KZR , 7KZS , 7KZT , 7KZV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11510	FA_FANCE	274 → 535	Fanconi Anaemia group E protein FANCE	Family

Sequence

MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDW
GRLLEALCREEPVVQGPDGRLELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQI
AQQDLAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERCQRQLQSLCRGLGLGGRRLKS
PQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEE
GLEGLEDAPPVELQLLHECSPSQMDLLCAQLQLPQLSDLGLLRLCTWLLALSPDLSLSNA
TVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTELL
CCLVKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQVEMTPEKFSVLMEKLCKKG
LAATTSMAYAKLMLTVMTKYQANITETQRLGLAMALEPNTTFLRKSLKAALKHLGP

Sequence length

536

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		Fanconi Anemia Pathway

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 Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FANCE-related disorder	Likely pathogenic; Pathogenic	rs916124670, rs775076977	RCV003391451 RCV004751661	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia	Likely pathogenic; Pathogenic	rs755938406, rs2533657776, rs775076977	RCV002266522 RCV003331879 RCV004768556	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group E	Likely pathogenic; Pathogenic	rs1767163932, rs2150895088, rs752690798, rs1272613429, rs2150896309, rs773363446, rs1479445348, rs1767507722, rs2150885915, rs587778337, rs1561792535, rs2150889955, rs866005940, rs121434505, rs121434506 View all (48 more)	RCV001377608 RCV001377491 RCV001387796 RCV001383881 RCV001390298 View all (61 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs775076977	RCV005901613	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2150895088	RCV005912595	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

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.
Carcinoma of colon	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of pancreas	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exstrophy-epispadias complex	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP E	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic short stature	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMPHALOCELE EXSTROPHY IMPERFORATE ANUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (92)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	30417089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	17308347	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
Breast Carcinoma	Breast Carcinoma	BEFREE	26277624		★★★★★ ★☆☆☆☆ 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
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ 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 Carcinoma	Colorectal Cancer	CLINVAR_DG	27165003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27165003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ 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
Congenital Heart Defects	Congenital heart defects	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
Ectopic kidney	Ectopic kidney	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, 23504502	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia with accommodative compensation	Esotropia	BEFREE	29502213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	10205272, 11157805, 12001267, 12093742, 12239156, 16127171, 16513431, 17308347, 24451376, 27165003, 28678401, 31586946, 9169126		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	10205272, 19686080, 7662964		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi anemia	Pubtator	11001585, 12239156, 15256425, 16127171, 17296736, 19405097, 21279724, 24451376, 27165003, 28678401	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi Anemia	Fanconi Anemia	LHGDN	12239156, 16127171		★★★★★ ★★★★☆ 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	10205272, 12239156, 16127171, 16513431, 24451376, 27165003, 28678401, 9169126		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP E	Fanconi Anemia	GENOMICS_ENGLAND_DG	10205272, 11001585, 19686080, 7662964, 9382107		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP E	Fanconi Anemia	UNIPROT_DG	11001585, 17924555		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP E	Fanconi Anemia	BEFREE	26277624		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP E	Fanconi Anemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP E	Fanconi Anemia	CLINVAR_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
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33592580	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	27165003, 30306255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	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	Pubtator	33270637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	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	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ 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
Malignant Head and Neck Neoplasm	Head and neck cancer	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26277624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30306255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	39256447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	29574575		★★★★★ ★☆☆☆☆ 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
Sarcoma	Sarcoma	Pubtator	28878254	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★★★★★ ★☆☆☆☆ 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
Thumb aplasia	Thumb Aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

FANCE (FA complementation group E)