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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57560
Gene name	Intraflagellar transport 80
Gene symbol	IFT80
Synonyms (NCBI Gene)	ATD2CFAP167FAP167SRTD2WDR56
Chromosome	3
Chromosome location	3q25.33
Summary	The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encod

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Show/Hide all (135)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019786	hsa-miR-375	Microarray	20215506
MIRT1061093	hsa-let-7a	CLIP-seq
MIRT1061094	hsa-let-7b	CLIP-seq
MIRT1061095	hsa-let-7c	CLIP-seq
MIRT1061096	hsa-let-7d	CLIP-seq
MIRT1061097	hsa-let-7e	CLIP-seq
MIRT1061098	hsa-let-7f	CLIP-seq
MIRT1061099	hsa-let-7g	CLIP-seq
MIRT1061100	hsa-let-7i	CLIP-seq
MIRT1061101	hsa-miR-1298	CLIP-seq
MIRT1061102	hsa-miR-1303	CLIP-seq
MIRT1061103	hsa-miR-196a	CLIP-seq
MIRT1061104	hsa-miR-196b	CLIP-seq
MIRT1061105	hsa-miR-202	CLIP-seq
MIRT1061106	hsa-miR-3121-3p	CLIP-seq
MIRT1061107	hsa-miR-3125	CLIP-seq
MIRT1061108	hsa-miR-320a	CLIP-seq
MIRT1061109	hsa-miR-320b	CLIP-seq
MIRT1061110	hsa-miR-320c	CLIP-seq
MIRT1061111	hsa-miR-320d	CLIP-seq
MIRT1061112	hsa-miR-335	CLIP-seq
MIRT1061113	hsa-miR-361-5p	CLIP-seq
MIRT1061114	hsa-miR-3671	CLIP-seq
MIRT1061115	hsa-miR-3916	CLIP-seq
MIRT1061116	hsa-miR-4255	CLIP-seq
MIRT1061117	hsa-miR-433	CLIP-seq
MIRT1061118	hsa-miR-4429	CLIP-seq
MIRT1061119	hsa-miR-4458	CLIP-seq
MIRT1061120	hsa-miR-4500	CLIP-seq
MIRT1061121	hsa-miR-4536	CLIP-seq
MIRT1061122	hsa-miR-4729	CLIP-seq
MIRT1061123	hsa-miR-4803	CLIP-seq
MIRT1061124	hsa-miR-513c	CLIP-seq
MIRT1061125	hsa-miR-514b-5p	CLIP-seq
MIRT1061126	hsa-miR-607	CLIP-seq
MIRT1061127	hsa-miR-877	CLIP-seq
MIRT1061128	hsa-miR-98	CLIP-seq
MIRT1061093	hsa-let-7a	CLIP-seq
MIRT1061094	hsa-let-7b	CLIP-seq
MIRT1061095	hsa-let-7c	CLIP-seq
MIRT1061096	hsa-let-7d	CLIP-seq
MIRT1061097	hsa-let-7e	CLIP-seq
MIRT1061098	hsa-let-7f	CLIP-seq
MIRT1061099	hsa-let-7g	CLIP-seq
MIRT1061100	hsa-let-7i	CLIP-seq
MIRT1061129	hsa-miR-101	CLIP-seq
MIRT1061130	hsa-miR-1200	CLIP-seq
MIRT1061131	hsa-miR-1206	CLIP-seq
MIRT1061132	hsa-miR-1256	CLIP-seq
MIRT1061133	hsa-miR-149	CLIP-seq
MIRT1061103	hsa-miR-196a	CLIP-seq
MIRT1061104	hsa-miR-196b	CLIP-seq
MIRT1061105	hsa-miR-202	CLIP-seq
MIRT1061134	hsa-miR-3064-5p	CLIP-seq
MIRT1061135	hsa-miR-33a	CLIP-seq
MIRT1061136	hsa-miR-33b	CLIP-seq
MIRT1061113	hsa-miR-361-5p	CLIP-seq
MIRT1061137	hsa-miR-3677-5p	CLIP-seq
MIRT1061116	hsa-miR-4255	CLIP-seq
MIRT1061138	hsa-miR-4261	CLIP-seq
MIRT1061139	hsa-miR-4324	CLIP-seq
MIRT1061119	hsa-miR-4458	CLIP-seq
MIRT1061140	hsa-miR-4496	CLIP-seq
MIRT1061120	hsa-miR-4500	CLIP-seq
MIRT1061121	hsa-miR-4536	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT1061142	hsa-miR-4728-3p	CLIP-seq
MIRT1061122	hsa-miR-4729	CLIP-seq
MIRT1061143	hsa-miR-4789-3p	CLIP-seq
MIRT1061144	hsa-miR-4789-5p	CLIP-seq
MIRT1061145	hsa-miR-4794	CLIP-seq
MIRT1061146	hsa-miR-544b	CLIP-seq
MIRT1061147	hsa-miR-889	CLIP-seq
MIRT1061128	hsa-miR-98	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT1061132	hsa-miR-1256	CLIP-seq
MIRT2550016	hsa-miR-1269	CLIP-seq
MIRT2550017	hsa-miR-1269b	CLIP-seq
MIRT2550018	hsa-miR-145	CLIP-seq
MIRT2550019	hsa-miR-155	CLIP-seq
MIRT2550020	hsa-miR-3117-5p	CLIP-seq
MIRT1061106	hsa-miR-3121-3p	CLIP-seq
MIRT2550021	hsa-miR-3140-3p	CLIP-seq
MIRT2550022	hsa-miR-3160-3p	CLIP-seq
MIRT2550023	hsa-miR-3163	CLIP-seq
MIRT2550024	hsa-miR-3675-3p	CLIP-seq
MIRT1061137	hsa-miR-3677-5p	CLIP-seq
MIRT2550025	hsa-miR-376c	CLIP-seq
MIRT2550026	hsa-miR-4275	CLIP-seq
MIRT2550027	hsa-miR-4487	CLIP-seq
MIRT2550028	hsa-miR-4529-3p	CLIP-seq
MIRT2550029	hsa-miR-4639-5p	CLIP-seq
MIRT2550030	hsa-miR-4662a-3p	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT2550031	hsa-miR-4712-5p	CLIP-seq
MIRT2550032	hsa-miR-4766-3p	CLIP-seq
MIRT1061144	hsa-miR-4789-5p	CLIP-seq
MIRT2550033	hsa-miR-499-3p	CLIP-seq
MIRT2550034	hsa-miR-499a-3p	CLIP-seq
MIRT2550035	hsa-miR-558	CLIP-seq
MIRT2550036	hsa-miR-568	CLIP-seq
MIRT2550037	hsa-miR-587	CLIP-seq
MIRT2550038	hsa-miR-599	CLIP-seq
MIRT2550039	hsa-miR-770-5p	CLIP-seq
MIRT2550040	hsa-miR-944	CLIP-seq
MIRT1061132	hsa-miR-1256	CLIP-seq
MIRT2550016	hsa-miR-1269	CLIP-seq
MIRT2550017	hsa-miR-1269b	CLIP-seq
MIRT2550018	hsa-miR-145	CLIP-seq
MIRT2550019	hsa-miR-155	CLIP-seq
MIRT2550020	hsa-miR-3117-5p	CLIP-seq
MIRT1061106	hsa-miR-3121-3p	CLIP-seq
MIRT2550021	hsa-miR-3140-3p	CLIP-seq
MIRT2550022	hsa-miR-3160-3p	CLIP-seq
MIRT2550023	hsa-miR-3163	CLIP-seq
MIRT2550024	hsa-miR-3675-3p	CLIP-seq
MIRT2682639	hsa-miR-3676	CLIP-seq
MIRT1061137	hsa-miR-3677-5p	CLIP-seq
MIRT2550025	hsa-miR-376c	CLIP-seq
MIRT2682640	hsa-miR-4282	CLIP-seq
MIRT2550027	hsa-miR-4487	CLIP-seq
MIRT2550028	hsa-miR-4529-3p	CLIP-seq
MIRT2550029	hsa-miR-4639-5p	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT2550031	hsa-miR-4712-5p	CLIP-seq
MIRT2550032	hsa-miR-4766-3p	CLIP-seq
MIRT1061144	hsa-miR-4789-5p	CLIP-seq
MIRT2682641	hsa-miR-513a-3p	CLIP-seq
MIRT2550035	hsa-miR-558	CLIP-seq
MIRT2550036	hsa-miR-568	CLIP-seq
MIRT2682642	hsa-miR-577	CLIP-seq
MIRT2550037	hsa-miR-587	CLIP-seq
MIRT1061126	hsa-miR-607	CLIP-seq
MIRT2550039	hsa-miR-770-5p	CLIP-seq
MIRT2550040	hsa-miR-944	CLIP-seq

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001503	Process	Ossification	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0003417	Process	Growth plate cartilage development	IEA
GO:0003418	Process	Growth plate cartilage chondrocyte differentiation	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	26980730
GO:0005929	Component	Cilium	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0009888	Process	Tissue development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IEA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030992	Component	Intraciliary transport particle B	IBA
GO:0030992	Component	Intraciliary transport particle B	IEA
GO:0030992	Component	Intraciliary transport particle B	IPI	26980730
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0033687	Process	Osteoblast proliferation	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035567	Process	Non-canonical Wnt signaling pathway	IEA
GO:0035630	Process	Bone mineralization involved in bone maturation	IEA
GO:0035720	Process	Intraciliary anterograde transport	NAS	26980730
GO:0036064	Component	Ciliary basal body	IEA
GO:0042476	Process	Odontogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0044691	Process	Tooth eruption	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0060173	Process	Limb development	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	NAS	26980730
GO:0060348	Process	Bone development	IEA
GO:0060349	Process	Bone morphogenesis	IEA
GO:0061975	Process	Articular cartilage development	IEA
GO:0071895	Process	Odontoblast differentiation	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0097500	Process	Receptor localization to non-motile cilium	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097731	Component	9+0 non-motile cilium	IEA
GO:1902140	Process	Response to inositol	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990079	Process	Cartilage homeostasis	IEA
GO:2000051	Process	Negative regulation of non-canonical Wnt signaling pathway	IEA

MIM	HGNC	e!Ensembl
611177	29262	ENSG00000068885

Q9P2H3

Protein name

Intraflagellar transport protein 80 homolog (WD repeat-containing protein 56)

Protein function

Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Isoform IFT80-L is widely expressed. {ECO:0000269|PubMed:18601909}.

Sequence

MRLKISLLKEPKHQELVSCVGWTTAEELYSCSDDHQIVKWNLLTSETTQIVKLPDDIYPI
DFHWFPKSLGVKKQTQAESFVLTSSDGKFHLISKLGRVEKSVEAHCGAVLAGRWNYEGTA
LVTVGEDGQIKIWSKTGMLRSTLAQQGTPVYSVAWGPDSEKVLYTAGKQLIIKPLQPNAK
VLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDSYGRPLYNSQPHEHPITSVAWAPD
GELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAHVVE
QHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFST
KNWNTPIIFDLKEGTVSLILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQ
TVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFLSHKNEILEIALDQKGLTNDRKIA
FIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNTVYV
DRDILPKTLYERDASEFSKNPHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSK
WEDAVRLCRFVKEQTMWACLAAMAVANRDMTTAEIAYAAIGEIDKVQYINSIKNLPSKES
KMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYNWERALELAVKYKTHVDTVLAYRQ
KFLETFGKQETNKRYLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP

Sequence length

777

Interactions

View interactions

	Reactome
			Intraflagellar transport

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Asphyxiating thoracic dystrophy 2	Likely pathogenic; Pathogenic	rs1721846338, rs138004478, rs778324141, rs137853115, rs779179710, rs369779153, rs2473107231, rs369919590, rs431905497, rs202051267, rs1302753011, rs1241223548	RCV005038166 RCV000087065 RCV001802510 RCV000001044 RCV005034764 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic	rs2275152	RCV005930526	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Likely pathogenic; Pathogenic	rs777519235, rs1721846338, rs781436346, rs2108277143, rs2108362424, rs778324141, rs2108240653, rs1386720978, rs1450731316, rs2108234807, rs1182330004, rs2108404264, rs1307708371, rs1718069979, rs2275152 View all (25 more)	RCV001378040 RCV001378148 RCV001384026 RCV001385751 RCV001389037 View all (36 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type IV short rib polydactyly syndrome	Likely pathogenic; Pathogenic	rs1553764834	RCV000515964	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

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.
ASPHYXIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IFT80-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JEUNE SYNDROME	—	Orphanet Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES, CYSTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJEWSKI SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME, BEEMER TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short-rib thoracic dysplasia 10 with or without polydactyly	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short-rib thoracic dysplasia 6 with or without polydactyly	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACIC DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (77)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asphyxiating Thoracic Dystrophy 2	Asphyxiating Thoracic Dystrophy	CLINVAR_DG	17468754, 19610081		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Asphyxiating Thoracic Dystrophy 2	Asphyxiating Thoracic Dystrophy	UNIPROT_DG	17468754		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Asphyxiating Thoracic Dystrophy 2	Asphyxiating Thoracic Dystrophy	GENOMICS_ENGLAND_DG	17468754, 19610081		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Asphyxiating Thoracic Dystrophy 2	Asphyxiating Thoracic Dystrophy	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	19442771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	BEFREE	30767363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	30767363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	CTD_human_DG	17468754		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31746426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29923190, 30767363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital duplication of uterus	Congenital Duplication Of Uterus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	17468754		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic kidney	Cystic Kidney Disease	CTD_human_DG	17468754		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Kidney Diseases	Cystic Kidney Disease	CTD_human_DG	17468754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopic anus	Ectopic anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36377597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jeune syndrome	Jeune Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune syndrome	Jeune syndrome	Pubtator	30453504, 31935347	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	BEFREE	17468754		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	ORPHANET_DG	17468754		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Majewski Syndrome	Majewski Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31746426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30453504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31746426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31746426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CTD_human_DG	17468754		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	CTD_human_DG	17468754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	BEFREE	19442771, 21227999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Short rib-polydactyly syndrome, Beemer type	Short Rib-Polydactyly Syndrome	ORPHANET_DG	30767363		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Beemer type	Short Rib-Polydactyly Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Beemer-Langer type	Short Rib-Polydactyly Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Verma-Naumoff type	Short Rib-Polydactyly Syndrome	ORPHANET_DG	19648123, 22791528		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Verma-Naumoff type	Short Rib-Polydactyly Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35403343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30453504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30453504	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic Diseases	CTD_human_DG	17468754		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

IFT80 (intraflagellar transport 80)