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	84282
Gene name	Ring finger protein 135
Gene symbol	RNF135
Synonyms (NCBI Gene)	L13MMFDREULRiplet
Chromosome	17
Chromosome location	17q11.2
Summary	The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to

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SNP ID	Visualize variation	Clinical significance	Consequence
rs724159978	G>-	Pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, frameshift variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant

179

Show/Hide all (179)

miRTarBase ID	miRNA	Experiments	Reference
MIRT642861	hsa-miR-3174	HITS-CLIP	23824327
MIRT642860	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT642859	hsa-miR-1226-3p	HITS-CLIP	23824327
MIRT642858	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT642857	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT642856	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT642855	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT642854	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT642853	hsa-miR-612	HITS-CLIP	23824327
MIRT642852	hsa-miR-6860	HITS-CLIP	23824327
MIRT642851	hsa-miR-661	HITS-CLIP	23824327
MIRT642850	hsa-miR-921	HITS-CLIP	23824327
MIRT145446	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT145450	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT145448	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT145449	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT145451	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT642861	hsa-miR-3174	HITS-CLIP	23824327
MIRT642860	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT642859	hsa-miR-1226-3p	HITS-CLIP	23824327
MIRT642858	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT642857	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT642856	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT642855	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT642854	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT642853	hsa-miR-612	HITS-CLIP	23824327
MIRT642852	hsa-miR-6860	HITS-CLIP	23824327
MIRT642851	hsa-miR-661	HITS-CLIP	23824327
MIRT642850	hsa-miR-921	HITS-CLIP	23824327
MIRT1309981	hsa-miR-1226	CLIP-seq
MIRT1309982	hsa-miR-1228	CLIP-seq
MIRT1309983	hsa-miR-124	CLIP-seq
MIRT1309984	hsa-miR-1273e	CLIP-seq
MIRT1309985	hsa-miR-1285	CLIP-seq
MIRT1309986	hsa-miR-1288	CLIP-seq
MIRT1309987	hsa-miR-23a	CLIP-seq
MIRT1309988	hsa-miR-23b	CLIP-seq
MIRT1309989	hsa-miR-23c	CLIP-seq
MIRT1309990	hsa-miR-24	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT1309992	hsa-miR-3169	CLIP-seq
MIRT1309993	hsa-miR-3185	CLIP-seq
MIRT1309994	hsa-miR-3187-3p	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT1309996	hsa-miR-342-3p	CLIP-seq
MIRT1309997	hsa-miR-3622b-5p	CLIP-seq
MIRT1309998	hsa-miR-3672	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT1310001	hsa-miR-3908	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT1310003	hsa-miR-3934	CLIP-seq
MIRT1310004	hsa-miR-3974	CLIP-seq
MIRT1310005	hsa-miR-4284	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT1310007	hsa-miR-4435	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT1310009	hsa-miR-4642	CLIP-seq
MIRT1310010	hsa-miR-4668-3p	CLIP-seq
MIRT1310011	hsa-miR-4701-5p	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT1310013	hsa-miR-4733-5p	CLIP-seq
MIRT1310014	hsa-miR-4786-5p	CLIP-seq
MIRT1310015	hsa-miR-4793-5p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq
MIRT1310017	hsa-miR-486-5p	CLIP-seq
MIRT1310018	hsa-miR-506	CLIP-seq
MIRT1310019	hsa-miR-545	CLIP-seq
MIRT1310020	hsa-miR-548ag	CLIP-seq
MIRT1310021	hsa-miR-548ai	CLIP-seq
MIRT1310022	hsa-miR-548an	CLIP-seq
MIRT1310023	hsa-miR-548s	CLIP-seq
MIRT1310024	hsa-miR-588	CLIP-seq
MIRT1310025	hsa-miR-630	CLIP-seq
MIRT1310026	hsa-miR-769-5p	CLIP-seq
MIRT1553139	hsa-miR-488	CLIP-seq
MIRT1553140	hsa-miR-556-3p	CLIP-seq
MIRT1553141	hsa-miR-582-5p	CLIP-seq
MIRT1309981	hsa-miR-1226	CLIP-seq
MIRT1309982	hsa-miR-1228	CLIP-seq
MIRT1309985	hsa-miR-1285	CLIP-seq
MIRT2092059	hsa-miR-147	CLIP-seq
MIRT2092060	hsa-miR-150	CLIP-seq
MIRT2092061	hsa-miR-155	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT2092062	hsa-miR-3675-3p	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT1310001	hsa-miR-3908	CLIP-seq
MIRT2092063	hsa-miR-3911	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT2092064	hsa-miR-4474-3p	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT2092065	hsa-miR-4713-5p	CLIP-seq
MIRT2092066	hsa-miR-4720-3p	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT2092067	hsa-miR-4804-3p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq
MIRT1553139	hsa-miR-488	CLIP-seq
MIRT2092068	hsa-miR-532-3p	CLIP-seq
MIRT1553140	hsa-miR-556-3p	CLIP-seq
MIRT1553141	hsa-miR-582-5p	CLIP-seq
MIRT2092069	hsa-miR-644	CLIP-seq
MIRT1309981	hsa-miR-1226	CLIP-seq
MIRT1309983	hsa-miR-124	CLIP-seq
MIRT1309985	hsa-miR-1285	CLIP-seq
MIRT2316543	hsa-miR-146a	CLIP-seq
MIRT2316544	hsa-miR-146b-5p	CLIP-seq
MIRT2316545	hsa-miR-198	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT2316546	hsa-miR-3119	CLIP-seq
MIRT2316547	hsa-miR-3135	CLIP-seq
MIRT2316548	hsa-miR-3158-3p	CLIP-seq
MIRT1309993	hsa-miR-3185	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT1310001	hsa-miR-3908	CLIP-seq
MIRT2316549	hsa-miR-3925-5p	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT1310004	hsa-miR-3974	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT1310010	hsa-miR-4668-3p	CLIP-seq
MIRT2316550	hsa-miR-4685-5p	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq
MIRT1553139	hsa-miR-488	CLIP-seq
MIRT1310018	hsa-miR-506	CLIP-seq
MIRT1310019	hsa-miR-545	CLIP-seq
MIRT1310020	hsa-miR-548ag	CLIP-seq
MIRT1310021	hsa-miR-548ai	CLIP-seq
MIRT1310022	hsa-miR-548an	CLIP-seq
MIRT1553140	hsa-miR-556-3p	CLIP-seq
MIRT1553141	hsa-miR-582-5p	CLIP-seq
MIRT1310014	hsa-miR-4786-5p	CLIP-seq
MIRT1309982	hsa-miR-1228	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq
MIRT1309981	hsa-miR-1226	CLIP-seq
MIRT1309982	hsa-miR-1228	CLIP-seq
MIRT1309985	hsa-miR-1285	CLIP-seq
MIRT1309986	hsa-miR-1288	CLIP-seq
MIRT2612578	hsa-miR-217	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT2612579	hsa-miR-3136-3p	CLIP-seq
MIRT1309992	hsa-miR-3169	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT2612580	hsa-miR-3922-5p	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT2612581	hsa-miR-4418	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq
MIRT2612582	hsa-miR-509-3-5p	CLIP-seq
MIRT2612583	hsa-miR-509-5p	CLIP-seq
MIRT1309982	hsa-miR-1228	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT1309992	hsa-miR-3169	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IDA	31006531
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0002376	Process	Immune system process	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	EXP	17392790, 19017631, 19484123
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	19484123
GO:0005515	Function	Protein binding	IPI	19017631, 25416956, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19484123
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0010494	Component	Cytoplasmic stress granule	IDA	23950712
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0010994	Process	Free ubiquitin chain polymerization	IDA	31006531
GO:0016567	Process	Protein ubiquitination	IDA	19017631, 19484123
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IMP	19017631
GO:0039529	Process	RIG-I signaling pathway	IDA	23950712
GO:0039529	Process	RIG-I signaling pathway	IEA
GO:0039529	Process	RIG-I signaling pathway	IMP	28469175, 31006531
GO:0039552	Function	RIG-I binding	IPI	23950712, 31006531
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0043021	Function	Ribonucleoprotein complex binding	IBA
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	31006531
GO:0043021	Function	Ribonucleoprotein complex binding	IPI	19881509
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS
GO:0045088	Process	Regulation of innate immune response	IBA
GO:0045088	Process	Regulation of innate immune response	IMP	19017631
GO:0046872	Function	Metal ion binding	IEA
GO:0051260	Process	Protein homooligomerization	IDA	31006531
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	31006531
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	31006531
GO:0140374	Process	Antiviral innate immune response	IEA
GO:0140374	Process	Antiviral innate immune response	IMP	28469175, 31006531
GO:1990904	Component	Ribonucleoprotein complex	IDA	31006531

MIM	HGNC	e!Ensembl
611358	21158	ENSG00000181481

Q8IUD6

Protein name

E3 ubiquitin-protein ligase RNF135 (EC 2.3.2.27) (RIG-I E3 ubiquitin ligase) (REUL) (RING finger protein 135) (RING finger protein leading to RIG-I activation) (Riplet) (RING-type E3 ubiquitin transferase RNF135)

Protein function

E2-dependent E3 ubiquitin-protein ligase that functions as a RIGI coreceptor in the sensing of viral RNAs in cell cytoplasm and the activation of the antiviral innate immune response (PubMed:19017631, PubMed:19484123, PubMed:21147464, PubMed:239

PDB

7JL1 , 7JL3 , 8G7T , 8G7U , 8G7V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15227	zf-C3HC4_4	21 → 62		Domain
PF00622	SPRY	312 → 427	SPRY domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in skeletal muscle, spleen, kidney, placenta, prostate, stomach, thyroid and tongue. Also weakly expressed in heart, thymus, liver and lung. {ECO:0000269|PubMed:19017631}.

Sequence

MAGLGLGSAVPVWLAEDDLGCIICQGLLDWPATLPCGHSFCRHCLEALWGARDARRWACP
TCRQGAAQQPHLRKNTLLQDLADKYRRAAREIQAGSDPAHCPCPGSSSLSSAAARPRRRP
ELQRVAVEKSITEVAQELTELVEHLVDIVRSLQNQRPLSESGPDNELSILGKAFSSGVDL
SMASPKLVTSDTAAGKIRDILHDLEEIQEKLQESVTWKEAPEAQMQGELLEAPSSSSCPL
PDQSHPALRRASRFAQWAIHPTFNLKSLSCSLEVSKDSRTVTVSHRPQPYRWSCERFSTS
QVLCSQALSSGKHYWEVDTRNCSHWAVGVASWEMSRDQVLGRTMDSCCVEWKGTSQLSAW
HMVKETVLGSDRPGVVGIWLNLEEGKLAFYSVDNQEKLLYECTISASSPLYPAFWLYGLH
PGNYLIIKQVKV

Sequence length

432

Interactions

View interactions

	Reactome
			DDX58/IFIH1-mediated induction of interferon-alpha/beta Ovarian tumor domain proteases TRAF3-dependent IRF activation pathway TRAF6 mediated IRF7 activation TRAF6 mediated NF-kB activation NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 Negative regulators of DDX58/IFIH1 signaling

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Pathogenic	rs724159978	RCV000754673	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly, macrosomia, facial dysmorphism syndrome	Pathogenic	rs724159978	RCV000001028	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

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.
17Q11 DELETION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 17q11.2 deletion syndrome, 1.4Mb	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNF135-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Apraxia of Phonation	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37108679	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG	30763456		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26368817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37803338, 38154055, 39324668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39766812	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	39766812	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30665703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30665703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26856755, 31258684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26856755, 31258684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18492260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME	Macrocephaly, Macrosomia, And Facial Dysmorphism Syndrome	GENOMICS_ENGLAND_DG	17632510, 26368817		★★★★★ ★☆☆☆☆ Found in Text Mining only
MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME	Macrocephaly, Macrosomia, And Facial Dysmorphism Syndrome	ORPHANET_DG	17632510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	27709798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20844836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	20844836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	28776093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	20844836	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
NF1 Microdeletion Syndrome	NF1 Microdeletion Syndrome	CTD_human_DG	17632510		★★★★★ ★☆☆☆☆ Found in Text Mining only
NF1 Microdeletion Syndrome	NF1 Microdeletion Syndrome	BEFREE	28776093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Overgrowth-macrocephaly-facial dysmorphism syndrome	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36495591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

RNF135 (ring finger protein 135)