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	23387
Gene name	SIK family kinase 3
Gene symbol	SIK3
Synonyms (NCBI Gene)	L19QSKSEMDKSIK-3
Chromosome	11
Chromosome location	11q23.3

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1565460853	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant

136

Show/Hide all (136)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039234	hsa-miR-454-3p	CLASH	23622248
MIRT707264	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT707263	hsa-miR-8485	HITS-CLIP	21572407
MIRT707262	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT707261	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT707260	hsa-miR-603	HITS-CLIP	21572407
MIRT707259	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT707258	hsa-miR-4643	HITS-CLIP	21572407
MIRT707257	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT707256	hsa-miR-5692b	HITS-CLIP	21572407
MIRT707255	hsa-miR-5692c	HITS-CLIP	21572407
MIRT707254	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT707253	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707252	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT707251	hsa-miR-3941	HITS-CLIP	21572407
MIRT707250	hsa-miR-466	HITS-CLIP	21572407
MIRT707249	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT707248	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT707247	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT707246	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707245	hsa-miR-6083	HITS-CLIP	21572407
MIRT639341	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT639340	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT639339	hsa-miR-4683	HITS-CLIP	23824327
MIRT639338	hsa-miR-1270	HITS-CLIP	23824327
MIRT639337	hsa-miR-620	HITS-CLIP	23824327
MIRT707264	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT707263	hsa-miR-8485	HITS-CLIP	21572407
MIRT707262	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT707261	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT707260	hsa-miR-603	HITS-CLIP	21572407
MIRT707259	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT707258	hsa-miR-4643	HITS-CLIP	21572407
MIRT707257	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT707256	hsa-miR-5692b	HITS-CLIP	21572407
MIRT707255	hsa-miR-5692c	HITS-CLIP	21572407
MIRT707254	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT707253	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707252	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT707251	hsa-miR-3941	HITS-CLIP	21572407
MIRT707250	hsa-miR-466	HITS-CLIP	21572407
MIRT707249	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT707248	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT707247	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT707246	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707245	hsa-miR-6083	HITS-CLIP	21572407
MIRT639341	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT639340	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT639339	hsa-miR-4683	HITS-CLIP	23824327
MIRT639338	hsa-miR-1270	HITS-CLIP	23824327
MIRT639337	hsa-miR-620	HITS-CLIP	23824327
MIRT1348990	hsa-miR-1253	CLIP-seq
MIRT1348991	hsa-miR-1909	CLIP-seq
MIRT1348992	hsa-miR-1976	CLIP-seq
MIRT1348993	hsa-miR-2052	CLIP-seq
MIRT1348994	hsa-miR-299-5p	CLIP-seq
MIRT1348995	hsa-miR-3128	CLIP-seq
MIRT1348996	hsa-miR-3613-3p	CLIP-seq
MIRT1348997	hsa-miR-3672	CLIP-seq
MIRT1348998	hsa-miR-383	CLIP-seq
MIRT1348999	hsa-miR-3907	CLIP-seq
MIRT1349000	hsa-miR-3908	CLIP-seq
MIRT1349001	hsa-miR-3919	CLIP-seq
MIRT1349002	hsa-miR-4263	CLIP-seq
MIRT1349003	hsa-miR-4318	CLIP-seq
MIRT1349004	hsa-miR-4461	CLIP-seq
MIRT1349005	hsa-miR-4470	CLIP-seq
MIRT1349006	hsa-miR-4525	CLIP-seq
MIRT1349007	hsa-miR-4534	CLIP-seq
MIRT1349008	hsa-miR-4693-5p	CLIP-seq
MIRT1349009	hsa-miR-4699-5p	CLIP-seq
MIRT1349010	hsa-miR-4709-3p	CLIP-seq
MIRT1349011	hsa-miR-4714-3p	CLIP-seq
MIRT1349012	hsa-miR-4716-3p	CLIP-seq
MIRT1349013	hsa-miR-4802-5p	CLIP-seq
MIRT1349014	hsa-miR-576-5p	CLIP-seq
MIRT1349015	hsa-miR-582-3p	CLIP-seq
MIRT1349016	hsa-miR-607	CLIP-seq
MIRT1349017	hsa-miR-629	CLIP-seq
MIRT1349018	hsa-miR-659	CLIP-seq
MIRT1349019	hsa-miR-892a	CLIP-seq
MIRT1349020	hsa-miR-9	CLIP-seq
MIRT2103427	hsa-miR-101	CLIP-seq
MIRT2103428	hsa-miR-144	CLIP-seq
MIRT2103429	hsa-miR-217	CLIP-seq
MIRT2103430	hsa-miR-668	CLIP-seq
MIRT2327691	hsa-miR-1973	CLIP-seq
MIRT2327692	hsa-miR-3605-3p	CLIP-seq
MIRT2327693	hsa-miR-4275	CLIP-seq
MIRT2327694	hsa-miR-4530	CLIP-seq
MIRT2327695	hsa-miR-513b	CLIP-seq
MIRT2327696	hsa-miR-564	CLIP-seq
MIRT2394542	hsa-miR-106a	CLIP-seq
MIRT2394543	hsa-miR-106b	CLIP-seq
MIRT2394544	hsa-miR-17	CLIP-seq
MIRT2394545	hsa-miR-20a	CLIP-seq
MIRT2394546	hsa-miR-20b	CLIP-seq
MIRT2394547	hsa-miR-3609	CLIP-seq
MIRT2394548	hsa-miR-4280	CLIP-seq
MIRT2394549	hsa-miR-450b-5p	CLIP-seq
MIRT2394550	hsa-miR-4703-3p	CLIP-seq
MIRT2394551	hsa-miR-4796-3p	CLIP-seq
MIRT2394552	hsa-miR-519d	CLIP-seq
MIRT2394553	hsa-miR-548ah	CLIP-seq
MIRT2394554	hsa-miR-93	CLIP-seq
MIRT2622747	hsa-miR-1302	CLIP-seq
MIRT2622748	hsa-miR-298	CLIP-seq
MIRT2622749	hsa-miR-3144-5p	CLIP-seq
MIRT2622750	hsa-miR-3158-5p	CLIP-seq
MIRT2622751	hsa-miR-3175	CLIP-seq
MIRT2622752	hsa-miR-3191	CLIP-seq
MIRT2622753	hsa-miR-3619-3p	CLIP-seq
MIRT2622754	hsa-miR-3688-3p	CLIP-seq
MIRT2622755	hsa-miR-4261	CLIP-seq
MIRT2622756	hsa-miR-4298	CLIP-seq
MIRT2622757	hsa-miR-4325	CLIP-seq
MIRT2622758	hsa-miR-4418	CLIP-seq
MIRT2622759	hsa-miR-4436b-5p	CLIP-seq
MIRT2622760	hsa-miR-4463	CLIP-seq
MIRT2622761	hsa-miR-4652-5p	CLIP-seq
MIRT2622762	hsa-miR-4667-5p	CLIP-seq
MIRT2622763	hsa-miR-4700-5p	CLIP-seq
MIRT2622764	hsa-miR-494	CLIP-seq
MIRT2622765	hsa-miR-509-3-5p	CLIP-seq
MIRT2622766	hsa-miR-509-5p	CLIP-seq
MIRT2622767	hsa-miR-532-3p	CLIP-seq
MIRT2622768	hsa-miR-591	CLIP-seq
MIRT2622769	hsa-miR-662	CLIP-seq
MIRT2622749	hsa-miR-3144-5p	CLIP-seq
MIRT2622751	hsa-miR-3175	CLIP-seq
MIRT2622752	hsa-miR-3191	CLIP-seq
MIRT2622753	hsa-miR-3619-3p	CLIP-seq
MIRT2622760	hsa-miR-4463	CLIP-seq
MIRT2622761	hsa-miR-4652-5p	CLIP-seq
MIRT2622762	hsa-miR-4667-5p	CLIP-seq
MIRT2622763	hsa-miR-4700-5p	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000287	Function	Magnesium ion binding	IDA	14976552
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	14976552, 30232230
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	16306228, 25416956, 30232230, 32814053, 35271311, 36931259
GO:0005524	Function	ATP binding	IDA	14976552
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006468	Process	Protein phosphorylation	IDA	14976552
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0050321	Function	Tau-protein kinase activity	IBA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1904263	Process	Positive regulation of TORC1 signaling	IMP	30232230
GO:1904515	Process	Positive regulation of TORC2 signaling	IMP	30232230

MIM	HGNC	e!Ensembl
614776	29165	ENSG00000160584

Q9Y2K2

Protein name

Serine/threonine-protein kinase SIK3 (EC 2.7.11.1) (Salt-inducible kinase 3) (SIK-3) (Serine/threonine-protein kinase QSK)

Protein function

Positive regulator of mTOR signaling that functions by triggering the degradation of DEPTOR, an mTOR inhibitor. Involved in the dynamic regulation of mTOR signaling in chondrocyte differentiation during skeletogenesis (PubMed:30232230). Negative

PDB

8OKU , 8R4O , 8R4Q , 8R4U , 8R4V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	66 → 317	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in chondrocytes. {ECO:0000269|PubMed:30232230}.

Sequence

MAAAAASGAGGAAGAGTGGAGPAGRLLPPPAPGSPAAPAAVSPAAGQPRPPAPASRGPMP
ARIGYYEIDRTIGKGNFAVVKRATHLVTKAKVAIKIIDKTQLDEENLKKIFREVQIMKML
CHPHIIRLYQVMETERMIYLVTEYASGGEIFDHLVAHGRMAEKEARRKFKQIVTAVYFCH
CRNIVHRDLKAENLLLDANLNIKIADFGFSNLFTPGQLLKTWCGSPPYAAPELFEGKEYD
GPKVDIWSLGVVLYVLVCGALPFDGSTLQNLRARVLSGKFRIPFFMSTECEHLIRHMLVL
DPNKRLSMEQICKHKWMKLGDADPNFDRLIAECQQLKEERQVDPLNEDVLLAMEDMGLDK
EQTLQSLRSDAYDHYSAIYSLLCDRHKRHKTLRLGALPSMPRALAFQAPVNIQAEQAGTA
MNISVPQVQLINPENQIVEPDGTLNLDSDEGEEPSPEALVRYLSMRRHTVGVADPRTEVM
EDLQKLLPGFPGVNPQAPFLQVAPNVNFMHNLLPMQNLQPTGQLEYKEQSLLQPPTLQLL
NGMGPLGRRASDGGANIQLHAQQLLKRPRGPSPLVTMTPAVPAVTPVDEESSDGEPDQEA
VQSSTYKDSNTLHLPTERFSPVRRFSDGAASIQAFKAHLEKMGNNSSIKQLQQECEQLQK
MYGGQIDERTLEKTQQQHMLYQQEQHHQILQQQIQDSICPPQPSPPLQAACENQPALLTH
QLQRLRIQPSSPPPNHPNNHLFRQPSNSPPPMSSAMIQPHGAASSSQFQGLPSRSAIFQQ
QPENCSSPPNVALTCLGMQQPAQSQQVTIQVQEPVDMLSNMPGTAAGSSGRGISISPSAG
QMQMQHRTNLMATLSYGHRPLSKQLSADSAEAHSLNVNRFSPANYDQAHLHPHLFSDQSR
GSPSSYSPSTGVGFSPTQALKVPPLDQFPTFPPSAHQQPPHYTTSALQQALLSPTPPDYT
RHQQVPHILQGLLSPRHSLTGHSDIRLPPTEFAQLIKRQQQQRQQQQQQQQQQEYQELFR
HMNQGDAGSLAPSLGGQSMTERQALSYQNADSYHHHTSPQHLLQIRAQECVSQASSPTPP
HGYAHQPALMHSESMEEDCSCEGAKDGFQDSKSSSTLTKGCHDSPLLLSTGGPGDPESLL
GTVSHAQELGIHPYGHQPTAAFSKNKVPSREPVIGNCMDRSSPGQAVELPDHNGLGYPAR
PSVHEHHRPRALQRHHTIQNSDDAYVQLDNLPGMSLVAGKALSSARMSDAVLSQSSLMGS
QQFQDGENEECGASLGGHEHPDLSDGSQHLNSSCYPSTCITDILLSYKHPEVSFSMEQAG
V

Sequence length

1321

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
Spondyloepimetaphyseal dysplasia, Krakow type	Likely pathogenic; Pathogenic	rs2540619128, rs1565460853	RCV003883396 RCV000714506	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (22)

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.
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIK3-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	30013184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	27790247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28658303		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	28658303, 32682817, 33545220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32682817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31350328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21399663, 31762812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18266979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	22664640	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27009967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	27790247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	BEFREE	24886709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31762812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	27790247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	BEFREE	30254177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	39662927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jansen type metaphyseal chondrodysplasia	Metaphyseal chondrodysplasia	Pubtator	30232230	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28270177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29526696, 31697837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28658303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31350328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21399663, 31762812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28658303, 29861863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	31170924, 38201907	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	30382898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	BEFREE	31430259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31762812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31350328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24886709		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21399663, 31762812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Platybasia	Platybasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyloric Stenosis, Hypertrophic	Congenital hypertrophic pyloric stenosis	GWASCAT_DG	22306654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyloric Stenosis, Hypertrophic	Congenital hypertrophic pyloric stenosis	GWASDB_DG	22306654, 23989729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE	Spondyloenchondrodysplasia	GENOMICS_ENGLAND_DG	22318228		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE	Spondyloenchondrodysplasia	UNIPROT_DG	30232230		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

SIK3 (SIK family kinase 3)