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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79753
Gene name	Smad nuclear interacting protein 1
Gene symbol	SNIP1
Synonyms (NCBI Gene)	NEDHCSPML1PMRED
Chromosome	1
Chromosome location	1p34.3
Summary	This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-b

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SNP ID	Visualize variation	Clinical significance	Consequence
rs202020647	G>A	Pathogenic	Missense variant, coding sequence variant

247

Show/Hide all (247)

miRTarBase ID	miRNA	Experiments	Reference
MIRT699110	hsa-miR-4740-3p	HITS-CLIP	23313552
MIRT699109	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT699108	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT699107	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT699106	hsa-miR-3653-5p	HITS-CLIP	23313552
MIRT699105	hsa-miR-1976	HITS-CLIP	23313552
MIRT699104	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT699103	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT699102	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT699101	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT627549	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT627548	hsa-miR-1972	HITS-CLIP	23824327
MIRT627547	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT627546	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT627545	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT627544	hsa-miR-4518	HITS-CLIP	23824327
MIRT735779	hsa-miR-216a-3p	Luciferase reporter assayWestern blottingImmunofluorescenceqRT-PCR	31798627
MIRT736328	hsa-miR-29a-3p	Luciferase reporter assayWestern blottingqRT-PCR	33150075
MIRT699110	hsa-miR-4740-3p	HITS-CLIP	23313552
MIRT699109	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT699108	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT699107	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT699106	hsa-miR-3653-5p	HITS-CLIP	23313552
MIRT699105	hsa-miR-1976	HITS-CLIP	23313552
MIRT699104	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT699103	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT699102	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT699101	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT627549	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT627548	hsa-miR-1972	HITS-CLIP	23824327
MIRT627547	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT627546	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT627545	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT627544	hsa-miR-4518	HITS-CLIP	23824327
MIRT1375482	hsa-miR-105	CLIP-seq
MIRT1375483	hsa-miR-124	CLIP-seq
MIRT1375484	hsa-miR-1243	CLIP-seq
MIRT1375485	hsa-miR-1252	CLIP-seq
MIRT1375486	hsa-miR-142-5p	CLIP-seq
MIRT1375487	hsa-miR-1537	CLIP-seq
MIRT1375488	hsa-miR-15a	CLIP-seq
MIRT1375489	hsa-miR-15b	CLIP-seq
MIRT1375490	hsa-miR-16	CLIP-seq
MIRT1375491	hsa-miR-186	CLIP-seq
MIRT1375492	hsa-miR-195	CLIP-seq
MIRT1375493	hsa-miR-2052	CLIP-seq
MIRT1375494	hsa-miR-2682	CLIP-seq
MIRT1375495	hsa-miR-29a	CLIP-seq
MIRT1375496	hsa-miR-29b	CLIP-seq
MIRT1375497	hsa-miR-29c	CLIP-seq
MIRT1375498	hsa-miR-3065-5p	CLIP-seq
MIRT1375499	hsa-miR-30a	CLIP-seq
MIRT1375500	hsa-miR-30b	CLIP-seq
MIRT1375501	hsa-miR-30c	CLIP-seq
MIRT1375502	hsa-miR-30d	CLIP-seq
MIRT1375503	hsa-miR-30e	CLIP-seq
MIRT1375504	hsa-miR-3125	CLIP-seq
MIRT1375505	hsa-miR-3127-3p	CLIP-seq
MIRT1375506	hsa-miR-3133	CLIP-seq
MIRT1375507	hsa-miR-3160-5p	CLIP-seq
MIRT1375508	hsa-miR-3183	CLIP-seq
MIRT1375509	hsa-miR-3189-3p	CLIP-seq
MIRT1375510	hsa-miR-329	CLIP-seq
MIRT1375511	hsa-miR-330-3p	CLIP-seq
MIRT1375512	hsa-miR-331-3p	CLIP-seq
MIRT1375513	hsa-miR-335	CLIP-seq
MIRT1375514	hsa-miR-3591-3p	CLIP-seq
MIRT1375515	hsa-miR-362-3p	CLIP-seq
MIRT1375516	hsa-miR-3654	CLIP-seq
MIRT1375517	hsa-miR-3663-5p	CLIP-seq
MIRT1375518	hsa-miR-3670	CLIP-seq
MIRT1375519	hsa-miR-3671	CLIP-seq
MIRT1375520	hsa-miR-3679-3p	CLIP-seq
MIRT1375521	hsa-miR-3685	CLIP-seq
MIRT1375522	hsa-miR-3689d	CLIP-seq
MIRT1375523	hsa-miR-3714	CLIP-seq
MIRT1375524	hsa-miR-371-5p	CLIP-seq
MIRT1375525	hsa-miR-380	CLIP-seq
MIRT1375526	hsa-miR-384	CLIP-seq
MIRT1375527	hsa-miR-3910	CLIP-seq
MIRT1375528	hsa-miR-3916	CLIP-seq
MIRT1375529	hsa-miR-3941	CLIP-seq
MIRT1375530	hsa-miR-410	CLIP-seq
MIRT1375531	hsa-miR-424	CLIP-seq
MIRT1375532	hsa-miR-4263	CLIP-seq
MIRT1375533	hsa-miR-4272	CLIP-seq
MIRT1375534	hsa-miR-4276	CLIP-seq
MIRT1375535	hsa-miR-4277	CLIP-seq
MIRT1375536	hsa-miR-4302	CLIP-seq
MIRT1375537	hsa-miR-4495	CLIP-seq
MIRT1375538	hsa-miR-4496	CLIP-seq
MIRT1375539	hsa-miR-449c	CLIP-seq
MIRT1375540	hsa-miR-4697-3p	CLIP-seq
MIRT1375541	hsa-miR-4723-3p	CLIP-seq
MIRT1375542	hsa-miR-4747-5p	CLIP-seq
MIRT1375543	hsa-miR-4766-5p	CLIP-seq
MIRT1375544	hsa-miR-4804-3p	CLIP-seq
MIRT1375545	hsa-miR-494	CLIP-seq
MIRT1375546	hsa-miR-495	CLIP-seq
MIRT1375547	hsa-miR-497	CLIP-seq
MIRT1375548	hsa-miR-506	CLIP-seq
MIRT1375549	hsa-miR-522	CLIP-seq
MIRT1375550	hsa-miR-545	CLIP-seq
MIRT1375551	hsa-miR-548ag	CLIP-seq
MIRT1375552	hsa-miR-548ai	CLIP-seq
MIRT1375553	hsa-miR-548u	CLIP-seq
MIRT1375554	hsa-miR-603	CLIP-seq
MIRT1375555	hsa-miR-607	CLIP-seq
MIRT1375556	hsa-miR-617	CLIP-seq
MIRT1375557	hsa-miR-629	CLIP-seq
MIRT1375558	hsa-miR-630	CLIP-seq
MIRT1375559	hsa-miR-9	CLIP-seq
MIRT1375484	hsa-miR-1243	CLIP-seq
MIRT1375491	hsa-miR-186	CLIP-seq
MIRT1375493	hsa-miR-2052	CLIP-seq
MIRT1375504	hsa-miR-3125	CLIP-seq
MIRT1375506	hsa-miR-3133	CLIP-seq
MIRT1375511	hsa-miR-330-3p	CLIP-seq
MIRT1375516	hsa-miR-3654	CLIP-seq
MIRT1375517	hsa-miR-3663-5p	CLIP-seq
MIRT1375522	hsa-miR-3689d	CLIP-seq
MIRT1375528	hsa-miR-3916	CLIP-seq
MIRT2111650	hsa-miR-4704-3p	CLIP-seq
MIRT1375550	hsa-miR-545	CLIP-seq
MIRT1375553	hsa-miR-548u	CLIP-seq
MIRT1375559	hsa-miR-9	CLIP-seq
MIRT1375482	hsa-miR-105	CLIP-seq
MIRT2334846	hsa-miR-1237	CLIP-seq
MIRT1375483	hsa-miR-124	CLIP-seq
MIRT1375484	hsa-miR-1243	CLIP-seq
MIRT2334847	hsa-miR-1248	CLIP-seq
MIRT1375485	hsa-miR-1252	CLIP-seq
MIRT2334848	hsa-miR-1284	CLIP-seq
MIRT2334849	hsa-miR-1287	CLIP-seq
MIRT1375487	hsa-miR-1537	CLIP-seq
MIRT2334850	hsa-miR-203	CLIP-seq
MIRT1375494	hsa-miR-2682	CLIP-seq
MIRT1375495	hsa-miR-29a	CLIP-seq
MIRT1375496	hsa-miR-29b	CLIP-seq
MIRT1375497	hsa-miR-29c	CLIP-seq
MIRT2334851	hsa-miR-3065-3p	CLIP-seq
MIRT1375498	hsa-miR-3065-5p	CLIP-seq
MIRT1375499	hsa-miR-30a	CLIP-seq
MIRT1375500	hsa-miR-30b	CLIP-seq
MIRT1375501	hsa-miR-30c	CLIP-seq
MIRT1375502	hsa-miR-30d	CLIP-seq
MIRT1375503	hsa-miR-30e	CLIP-seq
MIRT1375504	hsa-miR-3125	CLIP-seq
MIRT1375506	hsa-miR-3133	CLIP-seq
MIRT2334852	hsa-miR-3135b	CLIP-seq
MIRT2334853	hsa-miR-3182	CLIP-seq
MIRT1375508	hsa-miR-3183	CLIP-seq
MIRT1375509	hsa-miR-3189-3p	CLIP-seq
MIRT1375510	hsa-miR-329	CLIP-seq
MIRT1375511	hsa-miR-330-3p	CLIP-seq
MIRT1375513	hsa-miR-335	CLIP-seq
MIRT2334854	hsa-miR-3614-5p	CLIP-seq
MIRT1375515	hsa-miR-362-3p	CLIP-seq
MIRT2334855	hsa-miR-3647-3p	CLIP-seq
MIRT1375516	hsa-miR-3654	CLIP-seq
MIRT2334856	hsa-miR-3663-3p	CLIP-seq
MIRT1375517	hsa-miR-3663-5p	CLIP-seq
MIRT2334857	hsa-miR-3665	CLIP-seq
MIRT1375518	hsa-miR-3670	CLIP-seq
MIRT1375519	hsa-miR-3671	CLIP-seq
MIRT1375521	hsa-miR-3685	CLIP-seq
MIRT2334858	hsa-miR-3686	CLIP-seq
MIRT1375522	hsa-miR-3689d	CLIP-seq
MIRT1375523	hsa-miR-3714	CLIP-seq
MIRT1375524	hsa-miR-371-5p	CLIP-seq
MIRT1375526	hsa-miR-384	CLIP-seq
MIRT1375527	hsa-miR-3910	CLIP-seq
MIRT1375528	hsa-miR-3916	CLIP-seq
MIRT1375529	hsa-miR-3941	CLIP-seq
MIRT1375532	hsa-miR-4263	CLIP-seq
MIRT1375533	hsa-miR-4272	CLIP-seq
MIRT1375535	hsa-miR-4277	CLIP-seq
MIRT1375536	hsa-miR-4302	CLIP-seq
MIRT2334859	hsa-miR-4422	CLIP-seq
MIRT2334860	hsa-miR-4468	CLIP-seq
MIRT2334861	hsa-miR-4473	CLIP-seq
MIRT1375537	hsa-miR-4495	CLIP-seq
MIRT1375538	hsa-miR-4496	CLIP-seq
MIRT1375539	hsa-miR-449c	CLIP-seq
MIRT2334862	hsa-miR-4661-3p	CLIP-seq
MIRT1375540	hsa-miR-4697-3p	CLIP-seq
MIRT2111650	hsa-miR-4704-3p	CLIP-seq
MIRT1375541	hsa-miR-4723-3p	CLIP-seq
MIRT2334863	hsa-miR-4728-3p	CLIP-seq
MIRT1375542	hsa-miR-4747-5p	CLIP-seq
MIRT2334864	hsa-miR-4760-5p	CLIP-seq
MIRT1375543	hsa-miR-4766-5p	CLIP-seq
MIRT2334865	hsa-miR-4773	CLIP-seq
MIRT2334866	hsa-miR-4797-5p	CLIP-seq
MIRT1375545	hsa-miR-494	CLIP-seq
MIRT1375546	hsa-miR-495	CLIP-seq
MIRT1375548	hsa-miR-506	CLIP-seq
MIRT2334867	hsa-miR-512-3p	CLIP-seq
MIRT2334868	hsa-miR-520f	CLIP-seq
MIRT1375549	hsa-miR-522	CLIP-seq
MIRT1375550	hsa-miR-545	CLIP-seq
MIRT2334869	hsa-miR-548aa	CLIP-seq
MIRT1375551	hsa-miR-548ag	CLIP-seq
MIRT1375552	hsa-miR-548ai	CLIP-seq
MIRT1375553	hsa-miR-548u	CLIP-seq
MIRT2334870	hsa-miR-561	CLIP-seq
MIRT1375554	hsa-miR-603	CLIP-seq
MIRT1375555	hsa-miR-607	CLIP-seq
MIRT1375556	hsa-miR-617	CLIP-seq
MIRT1375558	hsa-miR-630	CLIP-seq
MIRT2334871	hsa-miR-711	CLIP-seq
MIRT2334872	hsa-miR-764	CLIP-seq
MIRT2334873	hsa-miR-767-5p	CLIP-seq
MIRT1375559	hsa-miR-9	CLIP-seq
MIRT2334874	hsa-miR-940	CLIP-seq
MIRT1375482	hsa-miR-105	CLIP-seq
MIRT1375555	hsa-miR-607	CLIP-seq
MIRT2440609	hsa-miR-1197	CLIP-seq
MIRT2440610	hsa-miR-3148	CLIP-seq
MIRT2440611	hsa-miR-3153	CLIP-seq
MIRT2440612	hsa-miR-3165	CLIP-seq
MIRT1375529	hsa-miR-3941	CLIP-seq
MIRT2440613	hsa-miR-4299	CLIP-seq
MIRT2440614	hsa-miR-4456	CLIP-seq
MIRT2440615	hsa-miR-4643	CLIP-seq
MIRT2440616	hsa-miR-4646-5p	CLIP-seq
MIRT2440617	hsa-miR-466	CLIP-seq
MIRT2440618	hsa-miR-4668-5p	CLIP-seq
MIRT2440619	hsa-miR-4672	CLIP-seq
MIRT2440620	hsa-miR-4789-3p	CLIP-seq
MIRT2440621	hsa-miR-548q	CLIP-seq
MIRT2440609	hsa-miR-1197	CLIP-seq
MIRT2440610	hsa-miR-3148	CLIP-seq
MIRT2440611	hsa-miR-3153	CLIP-seq
MIRT1375507	hsa-miR-3160-5p	CLIP-seq
MIRT2440612	hsa-miR-3165	CLIP-seq
MIRT1375512	hsa-miR-331-3p	CLIP-seq
MIRT1375529	hsa-miR-3941	CLIP-seq
MIRT2440613	hsa-miR-4299	CLIP-seq
MIRT2440614	hsa-miR-4456	CLIP-seq
MIRT2440615	hsa-miR-4643	CLIP-seq
MIRT2440616	hsa-miR-4646-5p	CLIP-seq
MIRT2440617	hsa-miR-466	CLIP-seq
MIRT2440618	hsa-miR-4668-5p	CLIP-seq
MIRT2440619	hsa-miR-4672	CLIP-seq
MIRT2440620	hsa-miR-4789-3p	CLIP-seq
MIRT2440621	hsa-miR-548q	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	29360106
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	31744343
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	17157259, 18794151, 21516116, 22365833, 25416956, 28514442, 31515488, 32296183, 32707033, 33961781, 38309408
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	29360106
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	31744343
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	NAS	31744343
GO:0005686	Component	U2 snRNP	NAS	31744343
GO:0005829	Component	Cytosol	IDA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0035196	Process	MiRNA processing	IBA
GO:0035196	Process	MiRNA processing	IMP	18632581
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IEA
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29360106
GO:0140416	Function	Transcription regulator inhibitor activity	IEA
GO:1903241	Process	U2-type prespliceosome assembly	NAS	31744343

MIM	HGNC	e!Ensembl
608241	30587	ENSG00000163877

Q8TAD8

Protein name

Smad nuclear-interacting protein 1 (FHA domain-containing protein SNIP1)

Protein function

Required for pre-mRNA splicing as component of the spliceosome (PubMed:29360106). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Down-regulates NF-kappa-B signaling by competing wit

PDB

5Z56 , 5Z57 , 5Z58 , 6FF7 , 7ABG , 7ABH , 7ABI , 7DVQ , 8I0P , 8I0R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00498	FHA	281 → 361	FHA domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous, with highest expression in heart and skeletal muscle. {ECO:0000269|PubMed:10887155}.

Sequence

MKAVKSERERGSRRRHRDGDVVLPAGVVVKQERLSPEVAPPAHRRPDHSGGSPSPPTSEP
ARSGHRGNRARGVSRSPPKKKNKASGRRSKSPRSKRNRSPHHSTVKVKQEREDHPRRGRE
DRQHREPSEQEHRRARNSDRDRHRGHSHQRRTSNERPGSGQGQGRDRDTQNLQAQEEERE
FYNARRREHRQRNDVGGGGSESQELVPRPGGNNKEKEVPAKEKPSFELSGALLEDTNTFR
GVVIKYSEPPEARIPKKRWRLYPFKNDEVLPVMYIHRQSAYLLGRHRRIADIPIDHPSCS
KQHAVFQYRLVEYTRADGTVGRRVKPYIIDLGSGNGTFLNNKRIEPQRYYELKEKDVLKF
GFSSREYVLLHESSDTSEIDRKDDEDEEEEEEVSDS

Sequence length

396

Interactions

View interactions

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Psychomotor retardation, epilepsy, and craniofacial dysmorphism	Likely pathogenic	rs2522349649	RCV004586435	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
EPILEPSY, ROLANDIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Predisposition to dissection	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SNIP1-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acral Lentiginous Malignant Melanoma	Acral Lentiginous Malignant Melanoma	BEFREE	19759547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35589867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17157259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23932364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34570759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibroid Tumor	Leiomyoma	BEFREE	20651370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29426045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34151668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34570759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36597175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23932364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18794151		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19759547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15308725, 23932364, 29634978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27076624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17157259, 23932364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36597862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM	PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM	GENOMICS_ENGLAND_DG	22279524		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM	PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM	UNIPROT_DG	22279524		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM	PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Schizophrenia	BEFREE	10490696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	34570759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	21167768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	20651370		★★★★★ ★☆☆☆☆ Found in Text Mining only

SNIP1 (Smad nuclear interacting protein 1)