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	54585
Gene name	Leucine zipper transcription factor like 1
Gene symbol	LZTFL1
Synonyms (NCBI Gene)	BBS17
Chromosome	3
Chromosome location	3p21.31
Summary	This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary memb

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs431825171	CTTTG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs515726135	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs769327864	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1354476372	C>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant, 5 prime UTR variant
rs1553612629	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant

212

Show/Hide all (212)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002741	hsa-miR-1-3p	Microarray	15685193
MIRT017804	hsa-miR-335-5p	Microarray	18185580
MIRT002741	hsa-miR-1-3p	Microarray;Other	15685193
MIRT755573	miR-155	qRT-PCR	35992785
MIRT1124384	hsa-miR-1237	CLIP-seq
MIRT1124385	hsa-miR-198	CLIP-seq
MIRT1124386	hsa-miR-208a	CLIP-seq
MIRT1124387	hsa-miR-208b	CLIP-seq
MIRT1124388	hsa-miR-3160-5p	CLIP-seq
MIRT1124389	hsa-miR-3182	CLIP-seq
MIRT1124390	hsa-miR-3657	CLIP-seq
MIRT1124391	hsa-miR-3672	CLIP-seq
MIRT1124392	hsa-miR-3922-5p	CLIP-seq
MIRT1124393	hsa-miR-4264	CLIP-seq
MIRT1124394	hsa-miR-4297	CLIP-seq
MIRT1124395	hsa-miR-4303	CLIP-seq
MIRT1124396	hsa-miR-4432	CLIP-seq
MIRT1124397	hsa-miR-4669	CLIP-seq
MIRT1124398	hsa-miR-4682	CLIP-seq
MIRT1124399	hsa-miR-4729	CLIP-seq
MIRT1124400	hsa-miR-4778-5p	CLIP-seq
MIRT1124401	hsa-miR-4797-3p	CLIP-seq
MIRT1124402	hsa-miR-499-5p	CLIP-seq
MIRT1124403	hsa-miR-544b	CLIP-seq
MIRT1124404	hsa-miR-548c-3p	CLIP-seq
MIRT1124405	hsa-miR-935	CLIP-seq
MIRT2035144	hsa-miR-2115	CLIP-seq
MIRT2035145	hsa-miR-298	CLIP-seq
MIRT2035146	hsa-miR-3125	CLIP-seq
MIRT2035147	hsa-miR-3180-5p	CLIP-seq
MIRT2035148	hsa-miR-34c-3p	CLIP-seq
MIRT2035149	hsa-miR-3914	CLIP-seq
MIRT2035150	hsa-miR-3916	CLIP-seq
MIRT2035151	hsa-miR-4464	CLIP-seq
MIRT2035152	hsa-miR-4748	CLIP-seq
MIRT2035153	hsa-miR-520a-5p	CLIP-seq
MIRT2035154	hsa-miR-525-5p	CLIP-seq
MIRT2265579	hsa-miR-1183	CLIP-seq
MIRT2265580	hsa-miR-1246	CLIP-seq
MIRT2265581	hsa-miR-1290	CLIP-seq
MIRT1124385	hsa-miR-198	CLIP-seq
MIRT2035144	hsa-miR-2115	CLIP-seq
MIRT2265582	hsa-miR-297	CLIP-seq
MIRT2035146	hsa-miR-3125	CLIP-seq
MIRT2265583	hsa-miR-3133	CLIP-seq
MIRT2265584	hsa-miR-3149	CLIP-seq
MIRT2265585	hsa-miR-3167	CLIP-seq
MIRT2035147	hsa-miR-3180-5p	CLIP-seq
MIRT2265586	hsa-miR-34b	CLIP-seq
MIRT2035148	hsa-miR-34c-3p	CLIP-seq
MIRT1124391	hsa-miR-3672	CLIP-seq
MIRT2035150	hsa-miR-3916	CLIP-seq
MIRT2265587	hsa-miR-4263	CLIP-seq
MIRT1124395	hsa-miR-4303	CLIP-seq
MIRT2265588	hsa-miR-4307	CLIP-seq
MIRT2035151	hsa-miR-4464	CLIP-seq
MIRT2265589	hsa-miR-4536	CLIP-seq
MIRT1124398	hsa-miR-4682	CLIP-seq
MIRT1124399	hsa-miR-4729	CLIP-seq
MIRT2035152	hsa-miR-4748	CLIP-seq
MIRT2265590	hsa-miR-4768-5p	CLIP-seq
MIRT2265591	hsa-miR-4778-3p	CLIP-seq
MIRT1124400	hsa-miR-4778-5p	CLIP-seq
MIRT2265592	hsa-miR-4799-5p	CLIP-seq
MIRT2035153	hsa-miR-520a-5p	CLIP-seq
MIRT2035154	hsa-miR-525-5p	CLIP-seq
MIRT1124403	hsa-miR-544b	CLIP-seq
MIRT2265593	hsa-miR-548g	CLIP-seq
MIRT2265594	hsa-miR-567	CLIP-seq
MIRT2265595	hsa-miR-576-5p	CLIP-seq
MIRT2265596	hsa-miR-643	CLIP-seq
MIRT2265597	hsa-miR-876-5p	CLIP-seq
MIRT2265598	hsa-miR-885-5p	CLIP-seq
MIRT2390431	hsa-miR-185	CLIP-seq
MIRT2390432	hsa-miR-4306	CLIP-seq
MIRT2390433	hsa-miR-4644	CLIP-seq
MIRT2564924	hsa-miR-1	CLIP-seq
MIRT2564925	hsa-miR-1236	CLIP-seq
MIRT1124384	hsa-miR-1237	CLIP-seq
MIRT2265580	hsa-miR-1246	CLIP-seq
MIRT2564926	hsa-miR-1248	CLIP-seq
MIRT2564927	hsa-miR-1260	CLIP-seq
MIRT2564928	hsa-miR-1260b	CLIP-seq
MIRT2564929	hsa-miR-1270	CLIP-seq
MIRT2265581	hsa-miR-1290	CLIP-seq
MIRT2564930	hsa-miR-129-3p	CLIP-seq
MIRT2564931	hsa-miR-1305	CLIP-seq
MIRT2564932	hsa-miR-1321	CLIP-seq
MIRT2564933	hsa-miR-133a	CLIP-seq
MIRT2564934	hsa-miR-133b	CLIP-seq
MIRT2564935	hsa-miR-137	CLIP-seq
MIRT2564936	hsa-miR-148a	CLIP-seq
MIRT2564937	hsa-miR-148b	CLIP-seq
MIRT2564938	hsa-miR-152	CLIP-seq
MIRT2390431	hsa-miR-185	CLIP-seq
MIRT2564939	hsa-miR-186	CLIP-seq
MIRT2564940	hsa-miR-188-3p	CLIP-seq
MIRT2564941	hsa-miR-206	CLIP-seq
MIRT2564942	hsa-miR-216b	CLIP-seq
MIRT2035145	hsa-miR-298	CLIP-seq
MIRT2564943	hsa-miR-3124-3p	CLIP-seq
MIRT2564944	hsa-miR-3126-5p	CLIP-seq
MIRT2265583	hsa-miR-3133	CLIP-seq
MIRT2564945	hsa-miR-3140-3p	CLIP-seq
MIRT2564946	hsa-miR-3148	CLIP-seq
MIRT2564947	hsa-miR-3156-3p	CLIP-seq
MIRT2564948	hsa-miR-3162-5p	CLIP-seq
MIRT2265585	hsa-miR-3167	CLIP-seq
MIRT2564949	hsa-miR-3607-3p	CLIP-seq
MIRT2564950	hsa-miR-3607-5p	CLIP-seq
MIRT2564951	hsa-miR-362-5p	CLIP-seq
MIRT2564952	hsa-miR-3673	CLIP-seq
MIRT2564953	hsa-miR-376c	CLIP-seq
MIRT1124393	hsa-miR-4264	CLIP-seq
MIRT2564954	hsa-miR-4301	CLIP-seq
MIRT1124395	hsa-miR-4303	CLIP-seq
MIRT2390432	hsa-miR-4306	CLIP-seq
MIRT2564955	hsa-miR-4419a	CLIP-seq
MIRT2564956	hsa-miR-4427	CLIP-seq
MIRT1124396	hsa-miR-4432	CLIP-seq
MIRT2564957	hsa-miR-4493	CLIP-seq
MIRT2564958	hsa-miR-4501	CLIP-seq
MIRT2564959	hsa-miR-4510	CLIP-seq
MIRT2564960	hsa-miR-4517	CLIP-seq
MIRT2564961	hsa-miR-4522	CLIP-seq
MIRT2564962	hsa-miR-4531	CLIP-seq
MIRT2390433	hsa-miR-4644	CLIP-seq
MIRT2564963	hsa-miR-4649-3p	CLIP-seq
MIRT2564964	hsa-miR-4662a-5p	CLIP-seq
MIRT2564965	hsa-miR-4680-3p	CLIP-seq
MIRT2564966	hsa-miR-4687-5p	CLIP-seq
MIRT2564967	hsa-miR-4698	CLIP-seq
MIRT2564968	hsa-miR-4704-5p	CLIP-seq
MIRT2564969	hsa-miR-4717-5p	CLIP-seq
MIRT2564970	hsa-miR-4718	CLIP-seq
MIRT2564971	hsa-miR-4739	CLIP-seq
MIRT2564972	hsa-miR-4753-5p	CLIP-seq
MIRT2564973	hsa-miR-4756-5p	CLIP-seq
MIRT2564974	hsa-miR-4762-3p	CLIP-seq
MIRT2564975	hsa-miR-4773	CLIP-seq
MIRT2265591	hsa-miR-4778-3p	CLIP-seq
MIRT2564976	hsa-miR-4790-3p	CLIP-seq
MIRT1124401	hsa-miR-4797-3p	CLIP-seq
MIRT1124402	hsa-miR-499-5p	CLIP-seq
MIRT2564977	hsa-miR-500b	CLIP-seq
MIRT2564978	hsa-miR-501-5p	CLIP-seq
MIRT2564979	hsa-miR-516b	CLIP-seq
MIRT2564980	hsa-miR-548a-5p	CLIP-seq
MIRT2564981	hsa-miR-548ab	CLIP-seq
MIRT2564982	hsa-miR-548ak	CLIP-seq
MIRT2564983	hsa-miR-548b-5p	CLIP-seq
MIRT1124404	hsa-miR-548c-3p	CLIP-seq
MIRT2564984	hsa-miR-548c-5p	CLIP-seq
MIRT2564985	hsa-miR-548d-5p	CLIP-seq
MIRT2564986	hsa-miR-548h	CLIP-seq
MIRT2564987	hsa-miR-548i	CLIP-seq
MIRT2564988	hsa-miR-548j	CLIP-seq
MIRT2564989	hsa-miR-548n	CLIP-seq
MIRT2564990	hsa-miR-548w	CLIP-seq
MIRT2564991	hsa-miR-548y	CLIP-seq
MIRT2564992	hsa-miR-559	CLIP-seq
MIRT2564993	hsa-miR-607	CLIP-seq
MIRT2564994	hsa-miR-610	CLIP-seq
MIRT2564995	hsa-miR-613	CLIP-seq
MIRT2564996	hsa-miR-620	CLIP-seq
MIRT2265597	hsa-miR-876-5p	CLIP-seq
MIRT2564997	hsa-miR-889	CLIP-seq
MIRT2564925	hsa-miR-1236	CLIP-seq
MIRT2564927	hsa-miR-1260	CLIP-seq
MIRT2564928	hsa-miR-1260b	CLIP-seq
MIRT2564930	hsa-miR-129-3p	CLIP-seq
MIRT2564932	hsa-miR-1321	CLIP-seq
MIRT2564936	hsa-miR-148a	CLIP-seq
MIRT2564937	hsa-miR-148b	CLIP-seq
MIRT2564938	hsa-miR-152	CLIP-seq
MIRT2564939	hsa-miR-186	CLIP-seq
MIRT2564940	hsa-miR-188-3p	CLIP-seq
MIRT2564942	hsa-miR-216b	CLIP-seq
MIRT2265582	hsa-miR-297	CLIP-seq
MIRT2035145	hsa-miR-298	CLIP-seq
MIRT2265583	hsa-miR-3133	CLIP-seq
MIRT2564946	hsa-miR-3148	CLIP-seq
MIRT2265584	hsa-miR-3149	CLIP-seq
MIRT2564947	hsa-miR-3156-3p	CLIP-seq
MIRT2564948	hsa-miR-3162-5p	CLIP-seq
MIRT2564949	hsa-miR-3607-3p	CLIP-seq
MIRT2564950	hsa-miR-3607-5p	CLIP-seq
MIRT1124393	hsa-miR-4264	CLIP-seq
MIRT2564954	hsa-miR-4301	CLIP-seq
MIRT2265588	hsa-miR-4307	CLIP-seq
MIRT1124396	hsa-miR-4432	CLIP-seq
MIRT2564957	hsa-miR-4493	CLIP-seq
MIRT2564961	hsa-miR-4522	CLIP-seq
MIRT2265589	hsa-miR-4536	CLIP-seq
MIRT2564964	hsa-miR-4662a-5p	CLIP-seq
MIRT2564966	hsa-miR-4687-5p	CLIP-seq
MIRT2564968	hsa-miR-4704-5p	CLIP-seq
MIRT2564969	hsa-miR-4717-5p	CLIP-seq
MIRT2564970	hsa-miR-4718	CLIP-seq
MIRT2564971	hsa-miR-4739	CLIP-seq
MIRT2564972	hsa-miR-4753-5p	CLIP-seq
MIRT2564973	hsa-miR-4756-5p	CLIP-seq
MIRT2564974	hsa-miR-4762-3p	CLIP-seq
MIRT2265591	hsa-miR-4778-3p	CLIP-seq
MIRT2564976	hsa-miR-4790-3p	CLIP-seq
MIRT1124401	hsa-miR-4797-3p	CLIP-seq
MIRT1124402	hsa-miR-499-5p	CLIP-seq
MIRT2564979	hsa-miR-516b	CLIP-seq
MIRT1124404	hsa-miR-548c-3p	CLIP-seq
MIRT2265594	hsa-miR-567	CLIP-seq
MIRT2564994	hsa-miR-610	CLIP-seq
MIRT2265596	hsa-miR-643	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002177	Component	Manchette	IEA
GO:0005515	Function	Protein binding	IPI	22072986, 25416956, 27173435, 28514442, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0042802	Function	Identical protein binding	IPI	22072986, 25416956, 27107012, 32296183
GO:0044877	Function	Protein-containing complex binding	IDA	24550735
GO:0044877	Function	Protein-containing complex binding	IEA
GO:1903565	Process	Negative regulation of protein localization to cilium	IBA
GO:1903565	Process	Negative regulation of protein localization to cilium	IMP	22072986
GO:1903568	Process	Negative regulation of protein localization to ciliary membrane	IMP	22072986

MIM	HGNC	e!Ensembl
606568	6741	ENSG00000163818

Q9NQ48

Protein name

Leucine zipper transcription factor-like protein 1

Protein function

Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppres

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15294	Leu_zip	20 → 294	Leucine zipper	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in prostate, ovary, stomach, pancreas, esophagus, breast, liver, bladder, kidney, thyroid, colon and lung (at protein level). Down-regulated in multiple primary tumors (at protein level). Detected in testis, heart, skeletal m

Sequence

MAELGLNEHHQNEVINYMRFARSKRGLRLKTVDSCFQDLKESRLVEDTFTIDEVSEVLNG
LQAVVHSEVESELINTAYTNVLLLRQLFAQAEKWYLKLQTDISELENRELLEQVAEFEKA
EITSSNKKPILDVTKPKLAPLNEGGTAELLNKEILRLQEENEKLKSRLKTIEIQATNALD
EKSKLEKALQDLQLDQGNQKDFIKAQDLSNLENTVAALKSEFQKTLNDKTENQKSLEENL
ATAKHDLLRVQEQLHMAEKELEKKFQQTAAYRNMKEILTKKNDQIKDLRKRLAQYEPED

Sequence length

299

Interactions

View interactions

	Reactome
			BBSome-mediated cargo-targeting to cilium

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
Bardet-Biedl syndrome	Pathogenic	rs2529777952	RCV003222535	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 1	Pathogenic	rs515726135, rs515726136	RCV000114319 RCV000114320	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 17	Pathogenic; Likely pathogenic	rs515726135, rs515726136, rs2125680264, rs1374806070, rs2529764469, rs431825171, rs1354476372	RCV000133552 RCV000133553 RCV001807914 RCV003315150 RCV004527271 RCV000032989 RCV001028045 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LZTFL1-related disorder	Likely pathogenic	rs1354476372	RCV004749586	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRITICAL ILLNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease, susceptibility to, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	22510444, 23692385, 30423168, 31293455		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	ORPHANET_DG	22510444		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BARDET-BIEDL SYNDROME 17	Bardet-Biedl Syndrome	UNIPROT_DG	22510444, 23692385		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 17	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	22510444, 23692385, 27312011		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 17	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 17	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31351450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31371991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36966254	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	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
Coronary Disease	Coronary artery disease	Pubtator	37964352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	36966254	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31371991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31351450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31371991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25005785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20233871, 25005785, 30552230, 31293455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30423168, 31293455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	39344392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	23692385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	23692385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	GENOMICS_ENGLAND_DG	23692385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	22510444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25005785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	34597274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

LZTFL1 (leucine zipper transcription factor like 1)