FGF8 (fibroblast growth factor 8)

Gene

• Entrez ID: 2253
• Gene name: Fibroblast growth factor 8
• Gene symbol: FGF8
• Synonyms (NCBI Gene): AIGF, FGF-8, HBGF-8, HH6, KAL6
• Chromosome: 10
• Chromosome location: 10q24.32
• Summary: The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cel

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852659	G>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs137852660	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs137852661	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs137852662	T>C	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs606231408	G>C	Likely-pathogenic	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs876661328	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057524676	A>T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1554834889	C>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1554834892	C>T	Likely-pathogenic	Intron variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017212	hsa-miR-335-5p	Microarray	18185580
MIRT054861	hsa-miR-503-5p	Luciferase reporter assay, qRT-PCR, Western blot	24464787
MIRT995825	hsa-miR-2355-5p	CLIP-seq
MIRT995826	hsa-miR-3065-3p	CLIP-seq
MIRT995827	hsa-miR-361-3p	CLIP-seq
MIRT995828	hsa-miR-596	CLIP-seq
MIRT2449668	hsa-miR-2278	CLIP-seq
MIRT995825	hsa-miR-2355-5p	CLIP-seq
MIRT2449669	hsa-miR-2467-3p	CLIP-seq
MIRT995826	hsa-miR-3065-3p	CLIP-seq
MIRT2449670	hsa-miR-3158-5p	CLIP-seq
MIRT2449671	hsa-miR-3678-3p	CLIP-seq
MIRT995828	hsa-miR-596	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Activation	16683270
RELA	Activation	16683270

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001656	Process	Metanephros development	IEP	18437684
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001759	Process	Organ induction	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001823	Process	Mesonephros development	IEP	18437684
GO:0001839	Process	Neural plate morphogenesis	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:0005105	Function	Type 1 fibroblast growth factor receptor binding	IBA
GO:0005105	Function	Type 1 fibroblast growth factor receptor binding	IDA	16384934
GO:0005105	Function	Type 1 fibroblast growth factor receptor binding	IEA
GO:0005111	Function	Type 2 fibroblast growth factor receptor binding	IBA
GO:0005111	Function	Type 2 fibroblast growth factor receptor binding	IDA	16384934
GO:0005111	Function	Type 2 fibroblast growth factor receptor binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	8891346
GO:0005737	Component	Cytoplasm	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007369	Process	Gastrulation	NAS	8700553
GO:0007507	Process	Heart development	IEA
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008078	Process	Mesodermal cell migration	IEA
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IDA	8891346, 17265164
GO:0008083	Function	Growth factor activity	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	17265164
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008406	Process	Gonad development	IMP	18596921
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IGI	8663044
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	TAS	22235191
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009653	Process	Anatomical structure morphogenesis	NAS	8595889
GO:0009792	Process	Embryo development ending in birth or egg hatching	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	TAS	24431302
GO:0021537	Process	Telencephalon development	IEA
GO:0021543	Process	Pallium development	IEA
GO:0021544	Process	Subpallium development	IEA
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IEA
GO:0021846	Process	Cell proliferation in forebrain	IEA
GO:0021884	Process	Forebrain neuron development	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0022008	Process	Neurogenesis	IBA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030334	Process	Regulation of cell migration	IBA
GO:0030539	Process	Male genitalia development	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0030916	Process	Otic vesicle formation	IEA
GO:0030917	Process	Midbrain-hindbrain boundary development	IEA
GO:0033563	Process	Dorsal/ventral axon guidance	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035265	Process	Organ growth	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0042056	Function	Chemoattractant activity	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042476	Process	Odontogenesis	IEP	17394220
GO:0042487	Process	Regulation of odontogenesis of dentin-containing tooth	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045597	Process	Positive regulation of cell differentiation	TAS	22235191
GO:0045745	Process	Positive regulation of G protein-coupled receptor signaling pathway	IEA
GO:0045840	Process	Positive regulation of mitotic nuclear division	IEA
GO:0046622	Process	Positive regulation of organ growth	IEA
GO:0048699	Process	Generation of neurons	IEA
GO:0048702	Process	Embryonic neurocranium morphogenesis	IEA
GO:0048853	Process	Forebrain morphogenesis	IEA
GO:0050918	Process	Positive chemotaxis	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0055026	Process	Negative regulation of cardiac muscle tissue development	IMP	20702560
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060128	Process	Corticotropin hormone secreting cell differentiation	IEA
GO:0060129	Process	Thyroid-stimulating hormone-secreting cell differentiation	IEA
GO:0060348	Process	Bone development	IMP	18596921
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0060563	Process	Neuroepithelial cell differentiation	IDA	17309880
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	IDA	15193767
GO:0071542	Process	Dopaminergic neuron differentiation	TAS	24431302
GO:0072089	Process	Stem cell proliferation	IEA
GO:0090134	Process	Cell migration involved in mesendoderm migration	IEA
GO:0120223	Process	Larynx morphogenesis	IEA
GO:0140014	Process	Mitotic nuclear division	IEA
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA

Other IDs

• MIM: 600483
• HGNC: 3686
• e!Ensembl: ENSG00000107831

Protein

• UniProt ID: P55075
• Protein name: Fibroblast growth factor 8 (FGF-8) (Androgen-induced growth factor) (AIGF) (Heparin-binding growth factor 8) (HBGF-8)
• Protein function: Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of th
• PDB: 2FDB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00167	FGF	70 → 193	Fibroblast growth factor	Domain

• Sequence:

  MGSPRSALSCLLLHLLVLCLQAQEGPGRGPALGRELASLFRAGREPQGVSQQHVREQSLV
  TDQLSRRLIRTYQLYSRTSGKHVQVLANKRINAMAEDGDPFAKLIVETDTFGSRVRVRGA
  ETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQNAKYEGWYMAFTRKGRPRKG
  SKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLRGSQRTWAPEPR

• Sequence length: 233

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Regulation of actin cytoskeleton
Pathways in cancer
Chemical carcinogenesis - receptor activation
Melanoma
Breast cancer
Gastric cancer

Reactome:

PI3K Cascade
PIP3 activates AKT signaling
Signaling by activated point mutants of FGFR1
Signaling by activated point mutants of FGFR3
FGFR4 ligand binding and activation
FGFR3b ligand binding and activation
FGFR3c ligand binding and activation
FGFR1c ligand binding and activation
FGFR2c ligand binding and activation
FGFR3 mutant receptor activation
Activated point mutants of FGFR2
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade: FGFR1
Phospholipase C-mediated cascade; FGFR2
Phospholipase C-mediated cascade; FGFR3
Phospholipase C-mediated cascade; FGFR4
Downstream signaling of activated FGFR1
SHC-mediated cascade:FGFR1
PI-3K cascade:FGFR1
FRS-mediated FGFR1 signaling
PI-3K cascade:FGFR2
SHC-mediated cascade:FGFR2
FRS-mediated FGFR2 signaling
SHC-mediated cascade:FGFR3
FRS-mediated FGFR3 signaling
PI-3K cascade:FGFR3
FRS-mediated FGFR4 signaling
SHC-mediated cascade:FGFR4
PI-3K cascade:FGFR4
Negative regulation of FGFR1 signaling
Negative regulation of FGFR2 signaling
Negative regulation of FGFR3 signaling
Negative regulation of FGFR4 signaling
Signaling by FGFR2 in disease
Signaling by FGFR1 in disease
FGFRL1 modulation of FGFR1 signaling
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Signaling by FGFR3 point mutants in cancer

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
Holoprosencephaly sequence	Likely pathogenic; Pathogenic	rs876661331, rs876661330, rs876661329, rs1554834892, rs139565972, rs1554834889, rs1490604080	RCV000223812 RCV000223728 RCV000661903 RCV000656364 RCV000656423 RCV000656426 RCV000656499	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypogonadotropic hypogonadism 6 with or without anosmia	Likely pathogenic; Pathogenic	rs876661330, rs876661329, rs137852659, rs137852661, rs137852662, rs137852663, rs1554834303	RCV000735419 RCV002503878 RCV000030886 RCV000030887 RCV000030888 RCV000009695 RCV000501421 RCV000735418	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs537681304	RCV003991608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Semilobar holoprosencephaly	Likely pathogenic	rs876661329, rs876661328	RCV000223893 RCV000223804	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
22Q11 DELETION SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLOCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGEORGE SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FGF8-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly 1	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOBAR HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROFORM HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDDLE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peters plus syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMI-LOBAR HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOPREOPTIC HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
22q11 Deletion Syndrome	22q11 deletion syndrome	BEFREE	12223415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
22q11 Deletion Syndrome	22q11 deletion syndrome	CTD_human_DG	12223415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acrocephalosyndactylia	Acrocephalopolydactyly	BEFREE	8595889		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	16095560		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23362007, 31527546		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alobar holoprosencephaly	Alobar Holoprosencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29707616	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	23533228	Associate	★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	23130941		★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	BEFREE	8595889		★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	23437350		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	19621416		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	14623825		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	23533228	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11358849, 19962979, 20370578, 21664418, 22465097, 24464787, 7737407, 8700553		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11953856	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30079292	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11764380, 9366493		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	37762545	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	CTD_human_DG	16720880		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	23643382		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	29168327		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	BEFREE	14623956		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	11764380		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27237708		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	23132826		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	29162626	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25473897		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34526059	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hand Deformities	Congenital anomaly of the hand	BEFREE	31748124		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	CTD_human_DG	16399080		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	32664970	Associate	★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	21832120	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	17448458, 9332670		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	25131394		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	31260189		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	BEFREE	23533228, 26680571, 29280744		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes insipidus	Pubtator	21832120	Associate	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	CTD_human_DG	16399080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29269444		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	11807898		★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	11532426		★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar Syndrome	BEFREE	17448458		★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	24280688		★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	20463092	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	16095560		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	40508017	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	20066439, 21204232, 21832120, 21976454, 29584859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	Pubtator	21832120, 21976454, 27363716	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	GENOMICS_ENGLAND_DG	27363716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	Pubtator	20463092, 22724017, 26199944, 40508017	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	24280688		★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	20188792		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	19621416, 19719764, 20389084, 20543690, 31361780, 31748124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	UNIPROT_DG	18596921, 23643382		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	GENOMICS_ENGLAND_DG	18596921, 20463092, 24280688, 24569166		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	CLINVAR_DG	23533228		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypospadias	Hypospadias	BEFREE	17264867, 31718875		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	18596921, 20463092, 20553372, 31748124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG	23533228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	31748124, 36700485	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	22423049		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	18596921, 20463092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	18985070, 20463092, 21682876, 21832120, 22035731, 22399515, 23533228	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	BEFREE	20389085, 20536592, 20543690, 25131394, 26680571, 31361780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome 1	Kallmann Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome 2 (disorder)	Kallmann Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kallmann syndrome, type 3, recessive	Kallmann Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	29626475		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	30079292		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21319186, 28791365		★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar holoprosencephaly	Lobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	11358849, 19962979, 20370578, 21664418, 22465097, 24464787, 7737407, 8700553		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10343609, 10348350, 10629559, 10872810, 11072239, 12140757, 12778074, 15538740, 16252261, 16683270, 17697126, 21076617, 7737407		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12778074, 20370578, 21319186, 23362007, 9366493		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	20837522		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12779088, 22465097, 23185502, 9366493		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microform holoprosencephaly	Microform Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micropenis	Micropenis	BEFREE	24280688		★☆☆☆☆ Found in Text Mining only
Midline interhemispheric variant of holoprosencephaly	Midline Interhemispheric Variant Of Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius Syndrome	BEFREE	21832120		★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius syndrome	Pubtator	21832120	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10343609, 10348350, 11072239, 16252261, 20428766, 25473897, 30079292, 8645626, 8891346, 9525747		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	26154924		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	30295181		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11532426		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Normosmic congenital hypogonadotropic hypogonadism	Normosmic Congenital Hypogonadotropic Hypogonadism	Orphanet			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	30079292		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	27527345	Associate	★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome 9	Orofaciodigital syndrome	Pubtator	23533228	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11072239		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17512240		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37762545	Stimulate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	22319038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panhypopituitarism	Panhypopituitarism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	11532426		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	17264867, 31718875		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	BEFREE	24280688		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pfeiffer Syndrome	Pfeiffer Syndrome	BEFREE	9332670		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10343609, 10348350, 10629559, 10872810, 12140757, 12778074, 15538740, 16252261, 16683270, 21076617, 7737407, 9525747		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	BEFREE	10343609		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	10343609	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Hypertrophy	Prostatic Hypertrophy	BEFREE	10343609		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	11406643	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10343609, 11406643, 11506499, 12778074	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12140757, 12778074, 16683270, 18386787		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	30276721		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	35813575	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	21832120, 22319038		★☆☆☆☆ Found in Text Mining only
Septopreoptic holoprosencephaly	Septopreoptic Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shprintzen syndrome	Shprintzen Syndrome	CTD_human_DG	16399080		★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	23132826		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28880263	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31527546	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
VACTERL association	Vacterl association	Pubtator	34338422	Associate	★☆☆☆☆ Found in Text Mining only
VATER association	Vacterl association	Pubtator	34338422	Associate	★☆☆☆☆ Found in Text Mining only
VATER/VACTERL ASSOCIATION	VACTERL ASSOCIATION	BEFREE	25131394		★☆☆☆☆ Found in Text Mining only