NEK1 (NIMA related kinase 1)

Gene

• Entrez ID: 4750
• Gene name: NIMA related kinase 1
• Gene symbol: NEK1
• Synonyms (NCBI Gene): ALS24, NY-REN-55, OFD2, SRPS2, SRPS2A, SRTD6
• Chromosome: 4
• Chromosome location: 4q33
• Summary: The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs10034957	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs34324114	A>C	Likely-pathogenic, benign, likely-benign	Downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs56077602	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs189186475	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs199947197	G>C	Pathogenic, risk-factor, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs200161705	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, likely-benign, benign	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs371575563	G>A,C	Risk-factor	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs377607698	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs387906890	G>A,C	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs431905508	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs483352906	T>C	Pathogenic	Splice acceptor variant, intron variant
rs483352907	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs749428135	T>A	Risk-factor	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, intron variant
rs752878896	TGTT>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs756830252	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs758677637	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs772747361	C>A,T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs773496891	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs775849720	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs776098853	A>T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs786205645	TA>-	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs794727032	C>A	Pathogenic	Intron variant, splice acceptor variant
rs794727285	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs985064686	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained, 5 prime UTR variant
rs1049502301	C>T	Other, pathogenic	Splice donor variant, genic upstream transcript variant
rs1131690775	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant, 5 prime UTR variant
rs1157065841	T>C,G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs1301705612	C>T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1362848762	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1554020563	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1554053289	CC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1554075284	GTTT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, intron variant, frameshift variant
rs1554075506	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT026517	hsa-miR-192-5p	Microarray	19074876
MIRT030894	hsa-miR-21-5p	Microarray	18591254
MIRT042284	hsa-miR-484	CLASH	23622248
MIRT643489	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT643488	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT643489	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT643488	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT1180087	hsa-miR-1260	CLIP-seq
MIRT1180088	hsa-miR-1260b	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT1180090	hsa-miR-188-3p	CLIP-seq
MIRT1180091	hsa-miR-3156-3p	CLIP-seq
MIRT1180092	hsa-miR-4301	CLIP-seq
MIRT1180093	hsa-miR-4718	CLIP-seq
MIRT1180094	hsa-miR-4742-3p	CLIP-seq
MIRT1180095	hsa-miR-136	CLIP-seq
MIRT1180096	hsa-miR-421	CLIP-seq
MIRT1180097	hsa-miR-4446-5p	CLIP-seq
MIRT1180098	hsa-miR-4470	CLIP-seq
MIRT1180099	hsa-miR-4709-5p	CLIP-seq
MIRT1180100	hsa-miR-4742-5p	CLIP-seq
MIRT1180101	hsa-miR-4755-5p	CLIP-seq
MIRT2052120	hsa-miR-1323	CLIP-seq
MIRT2052121	hsa-miR-153	CLIP-seq
MIRT2052122	hsa-miR-25	CLIP-seq
MIRT2052123	hsa-miR-32	CLIP-seq
MIRT2052124	hsa-miR-363	CLIP-seq
MIRT2052125	hsa-miR-367	CLIP-seq
MIRT2052126	hsa-miR-448	CLIP-seq
MIRT2052127	hsa-miR-548aa	CLIP-seq
MIRT2052128	hsa-miR-548o	CLIP-seq
MIRT2052129	hsa-miR-92a	CLIP-seq
MIRT2052130	hsa-miR-92b	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT2281436	hsa-miR-3613-3p	CLIP-seq
MIRT2281437	hsa-miR-548ae	CLIP-seq
MIRT2281438	hsa-miR-548aj	CLIP-seq
MIRT2281439	hsa-miR-548am	CLIP-seq
MIRT2281440	hsa-miR-548x	CLIP-seq
MIRT2579740	hsa-miR-1238	CLIP-seq
MIRT2579741	hsa-miR-1255a	CLIP-seq
MIRT2579742	hsa-miR-1255b	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT2579743	hsa-miR-128	CLIP-seq
MIRT2052120	hsa-miR-1323	CLIP-seq
MIRT2579744	hsa-miR-142-5p	CLIP-seq
MIRT2052121	hsa-miR-153	CLIP-seq
MIRT2579745	hsa-miR-21	CLIP-seq
MIRT2579746	hsa-miR-224	CLIP-seq
MIRT2579747	hsa-miR-2355-3p	CLIP-seq
MIRT2052122	hsa-miR-25	CLIP-seq
MIRT2579748	hsa-miR-27a	CLIP-seq
MIRT2579749	hsa-miR-27b	CLIP-seq
MIRT2579750	hsa-miR-3143	CLIP-seq
MIRT2052123	hsa-miR-32	CLIP-seq
MIRT2579751	hsa-miR-337-3p	CLIP-seq
MIRT2052124	hsa-miR-363	CLIP-seq
MIRT2052125	hsa-miR-367	CLIP-seq
MIRT2579752	hsa-miR-3685	CLIP-seq
MIRT2579753	hsa-miR-384	CLIP-seq
MIRT2579754	hsa-miR-3924	CLIP-seq
MIRT2579755	hsa-miR-3973	CLIP-seq
MIRT2579756	hsa-miR-4314	CLIP-seq
MIRT2052126	hsa-miR-448	CLIP-seq
MIRT2579757	hsa-miR-4635	CLIP-seq
MIRT2579758	hsa-miR-4670-3p	CLIP-seq
MIRT2579759	hsa-miR-4691-5p	CLIP-seq
MIRT2579760	hsa-miR-4698	CLIP-seq
MIRT2579761	hsa-miR-4738-3p	CLIP-seq
MIRT2579762	hsa-miR-4802-5p	CLIP-seq
MIRT2579763	hsa-miR-520g	CLIP-seq
MIRT2579764	hsa-miR-520h	CLIP-seq
MIRT2579765	hsa-miR-548a-5p	CLIP-seq
MIRT2052127	hsa-miR-548aa	CLIP-seq
MIRT2579766	hsa-miR-548ab	CLIP-seq
MIRT2579767	hsa-miR-548ac	CLIP-seq
MIRT2281437	hsa-miR-548ae	CLIP-seq
MIRT2281438	hsa-miR-548aj	CLIP-seq
MIRT2579768	hsa-miR-548ak	CLIP-seq
MIRT2281439	hsa-miR-548am	CLIP-seq
MIRT2579769	hsa-miR-548b-5p	CLIP-seq
MIRT2579770	hsa-miR-548c-3p	CLIP-seq
MIRT2579771	hsa-miR-548c-5p	CLIP-seq
MIRT2579772	hsa-miR-548d-3p	CLIP-seq
MIRT2579773	hsa-miR-548d-5p	CLIP-seq
MIRT2579774	hsa-miR-548h	CLIP-seq
MIRT2579775	hsa-miR-548i	CLIP-seq
MIRT2579776	hsa-miR-548j	CLIP-seq
MIRT2579777	hsa-miR-548k	CLIP-seq
MIRT2579778	hsa-miR-548l	CLIP-seq
MIRT2052128	hsa-miR-548o	CLIP-seq
MIRT2579779	hsa-miR-548w	CLIP-seq
MIRT2281440	hsa-miR-548x	CLIP-seq
MIRT2579780	hsa-miR-548y	CLIP-seq
MIRT2579781	hsa-miR-548z	CLIP-seq
MIRT2579782	hsa-miR-559	CLIP-seq
MIRT2579783	hsa-miR-590-5p	CLIP-seq
MIRT2579784	hsa-miR-659	CLIP-seq
MIRT2579785	hsa-miR-676	CLIP-seq
MIRT2579786	hsa-miR-765	CLIP-seq
MIRT2579787	hsa-miR-888	CLIP-seq
MIRT2579788	hsa-miR-9	CLIP-seq
MIRT2052129	hsa-miR-92a	CLIP-seq
MIRT2052130	hsa-miR-92b	CLIP-seq
MIRT2579789	hsa-miR-944	CLIP-seq
MIRT2579740	hsa-miR-1238	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT2579743	hsa-miR-128	CLIP-seq
MIRT2052120	hsa-miR-1323	CLIP-seq
MIRT2052121	hsa-miR-153	CLIP-seq
MIRT2579745	hsa-miR-21	CLIP-seq
MIRT2579746	hsa-miR-224	CLIP-seq
MIRT2579747	hsa-miR-2355-3p	CLIP-seq
MIRT2052122	hsa-miR-25	CLIP-seq
MIRT2579748	hsa-miR-27a	CLIP-seq
MIRT2579749	hsa-miR-27b	CLIP-seq
MIRT2579750	hsa-miR-3143	CLIP-seq
MIRT2052123	hsa-miR-32	CLIP-seq
MIRT2052124	hsa-miR-363	CLIP-seq
MIRT2052125	hsa-miR-367	CLIP-seq
MIRT2579754	hsa-miR-3924	CLIP-seq
MIRT2579755	hsa-miR-3973	CLIP-seq
MIRT2052126	hsa-miR-448	CLIP-seq
MIRT2579757	hsa-miR-4635	CLIP-seq
MIRT2579759	hsa-miR-4691-5p	CLIP-seq
MIRT2579760	hsa-miR-4698	CLIP-seq
MIRT2579761	hsa-miR-4738-3p	CLIP-seq
MIRT2579762	hsa-miR-4802-5p	CLIP-seq
MIRT2579763	hsa-miR-520g	CLIP-seq
MIRT2579764	hsa-miR-520h	CLIP-seq
MIRT2052127	hsa-miR-548aa	CLIP-seq
MIRT2579770	hsa-miR-548c-3p	CLIP-seq
MIRT2052128	hsa-miR-548o	CLIP-seq
MIRT2579783	hsa-miR-590-5p	CLIP-seq
MIRT2579785	hsa-miR-676	CLIP-seq
MIRT2579786	hsa-miR-765	CLIP-seq
MIRT2579787	hsa-miR-888	CLIP-seq
MIRT2052129	hsa-miR-92a	CLIP-seq
MIRT2052130	hsa-miR-92b	CLIP-seq
MIRT2579789	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000242	Component	Pericentriolar material	IDA	21211617
GO:0004672	Function	Protein kinase activity	IBA
GO:0004672	Function	Protein kinase activity	IDA	15604234
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	14690447, 24510904, 24947832, 26167768, 26290490, 28514442, 33961781, 35271311, 36931259
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	15604234
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	15604234
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0006468	Process	Protein phosphorylation	IDA	19158487
GO:0016301	Function	Kinase activity	IEA
GO:0016301	Function	Kinase activity	IMP	19158487
GO:0016740	Function	Transferase activity	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0060271	Process	Cilium assembly	IMP	21211617
GO:0071889	Function	14-3-3 protein binding	ISS
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 604588
• HGNC: 7744
• e!Ensembl: ENSG00000137601

Protein

• UniProt ID: Q96PY6
• Protein name: Serine/threonine-protein kinase Nek1 (EC 2.7.11.1) (Never in mitosis A-related kinase 1) (NimA-related protein kinase 1) (Renal carcinoma antigen NY-REN-55)
• Protein function: Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784). In response to injury that includes DNA
• PDB: 4APC, 4B9D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	4 → 258	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: High fetal expression in the brain and kidney. {ECO:0000269|PubMed:21211617}.
• Sequence:

  MEKYVRLQKIGEGSFGKAILVKSTEDGRQYVIKEINISRMSSKEREESRREVAVLANMKH
  PNIVQYRESFEENGSLYIVMDYCEGGDLFKRINAQKGVLFQEDQILDWFVQICLALKHVH
  DRKILHRDIKSQNIFLTKDGTVQLGDFGIARVLNSTVELARTCIGTPYYLSPEICENKPY
  NNKSDIWALGCVLYELCTLKHAFEAGSMKNLVLKIISGSFPPVSLHYSYDLRSLVSQLFK
  RNPRDRPSVNSILEKGFIAKRIEKFLSPQLIAEEFCLKTFSKFGSQPIPAKRPASGQNSI
  SVMPAQKITKPAAKYGIPLAYKKYGDKKLHEKKPLQKHKQAHQTPEKRVNTGEERRKISE
  EAARKRRLEFIEKEKKQKDQIISLMKAEQMKRQEKERLERINRAREQGWRNVLSAGGSGE
  VKAPFLGSGGTIAPSSFSSRGQYEHYHAIFDQMQQQRAEDNEAKWKREIYGRGLPERGIL
  PGVRPGFPYGAAGHHHFPDADDIRKTLKRLKAVSKQANANRQKGQLAVERAKQVEEFLQR
  KREAMQNKARAEGHMVYLARLRQIRLQNFNERQQIKAKLRGEKKEANHSEGQEGSEEADM
  RRKKIESLKAHANARAAVLKEQLERKRKEAYEREKKVWEEHLVAKGVKSSDVSPPLGQHE
  TGGSPSKQQMRSVISVTSALKEVGVDSSLTDTRETSEEMQKTNNAISSKREILRRLNENL
  KAQEDEKGKQNLSDTFEINVHEDAKEHEKEKSVSSDRKKWEAGGQLVIPLDELTLDTSFS
  TTERHTVGEVIKLGPNGSPRRAWGKSPTDSVLKILGEAELQLQTELLENTTIRSEISPEG
  EKYKPLITGEKKVQCISHEINPSAIVDSPVETKSPEFSEASPQMSLKLEGNLEEPDDLET
  EILQEPSGTNKDESLPCTITDVWISEEKETKETQSADRITIQENEVSEDGVSSTVDQLSD
  IHIEPGTNDSQHSKCDVDKSVQPEPFFHKVVHSEHLNLVPQVQSVQCSPEESFAFRSHSH
  LPPKNKNKNSLLIGLSTGLFDANNPKMLRTCSLPDLSKLFRTLMDVPTVGDVRQDNLEID
  EIEDENIKEGPSDSEDIVFEETDTDLQELQASMEQLLREQPGEEYSEEEESVLKNSDVEP
  TANGTDVADEDDNPSSESALNEEWHSDNSDGEIASECECDSVFNHLEELRLHLEQEMGFE
  KFFEVYEKIKAIHEDEDENIEICSKIVQNILGNEHQHLYAKILHLVMADGAYQEDNDE

• Sequence length: 1258

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Amyotrophic lateral sclerosis, susceptibility to, 24	Pathogenic; Likely pathogenic	rs773156346, rs201769828, rs199947197, rs2546764617, rs750159428, rs2546553407, rs969452649, rs371575563, rs1744312712	RCV003147682 RCV002497931 RCV000585742 RCV003334442 RCV003444228 RCV003885442 RCV004577991 RCV000585741 RCV001283787	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Asphyxiating thoracic dystrophy 3	Pathogenic; Likely pathogenic	rs786205645, rs483352907	RCV000256463 RCV000023383	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Pathogenic	rs1049502301	RCV002278254	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mohr syndrome	Pathogenic; Likely pathogenic	rs2546929612, rs985064686	RCV003881706 RCV003766906	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor neuron disease	Pathogenic; Likely pathogenic	rs202115635, rs1131690775, rs1049502301	RCV000492640 RCV000492184 RCV000492619	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEK1-related disorder	Likely pathogenic; Pathogenic	rs199947197, rs202115635, rs1049502301, rs760894879, rs1469219144, rs936818837, rs1736367074, rs387906890, rs483352907, rs758677637, rs1276960586	RCV003947589 RCV003947821 RCV003955418 RCV003399463 RCV003983419 RCV003904423 RCV003954704 RCV004742231 RCV004742232 RCV004742475 RCV004742036	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short rib-polydactyly syndrome	Likely pathogenic; Pathogenic	rs368940355	RCV004017941	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 6 with or without polydactyly	Pathogenic; Likely pathogenic	rs2149558070, rs773156346, rs2111032650, rs2150139071, rs1482234746, rs2111354717, rs2150034070, rs201769828, rs763310804, rs2149690411, rs2150079083, rs2111335168, rs2111007067, rs1432921892, rs2546929747, rs786205645, rs794727032, rs794727285, rs980051423, rs368940355, rs1360145032, rs199947197, rs765037444, rs1406951209, rs202115635, rs1049502301, rs765296153, rs2478424918, rs2546789977, rs750159428, rs1770598885, rs370576859, rs2546393018, rs1296322530, rs2546546013, rs2477550717, rs2546763854, rs1762964297, rs387906890, rs483352906, rs773496891, rs752878896, rs775849720, rs1362848762, rs1554053289, rs758677637, rs985064686, rs1554075284, rs431905508, rs371575563, rs1554075506, rs1157065841, rs746591648, rs1765802748, rs1758763118, rs1744312712, rs1732670701	RCV001784738 RCV001806406 RCV001806415 RCV001822975 RCV001960542 RCV001897902 RCV001970136 RCV001971012 RCV001892336 RCV001930939 RCV001949594 RCV002052124 RCV002225180 RCV002269801 RCV002290318 RCV003988831 RCV000174122 RCV001852159 RCV003106460 RCV002579804 RCV002622532 RCV000190609 RCV003017667 RCV003055481 RCV002521865 RCV000515986 RCV003337747 RCV003523370 RCV003524184 RCV003522196 RCV003522452 RCV003523715 RCV003524473 RCV003523834 RCV003636302 RCV003637082 RCV003837212 RCV003882438 RCV000023381 RCV000023382 RCV000515958 RCV000516122 RCV000515854 RCV000515894 RCV000516096 RCV000515960 RCV000515987 RCV000515859 RCV000033162 RCV001380778 RCV000656514 RCV000656516 RCV001051793 RCV001196960 RCV001215518 RCV004762049 RCV001291528	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asphyxiating thoracic dystrophy 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJEWSKI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME II	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME TYPE 2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALDINO-NOONAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB DYSPLASIA	—	Disgenet	★★☆☆☆ 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, MAJEWSKI TYPE	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type IV short rib polydactyly syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adactyly	Adactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	26945885, 27455347		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	26945885		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27455347, 28710492, 28935222, 29149916, 29929116, 30093141, 30540963, 31108397		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	27455347, 28710492, 28935222, 29929116, 30940688, 30976013, 31768050, 32462798, 33709219, 36443167, 37188479, 37328865, 37585529, 37849306	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29149916	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	27455347	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	26945885, 27455347		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	26945885, 27455347		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	28982183		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asphyxiating Thoracic Dystrophy 1	Asphyxiating Thoracic Dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27081041	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37043475	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24970796	Associate	★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	27530628	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	21211617, 28017521, 28123176, 28710492		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	21211617, 28017521, 28710492	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24970796		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31108397		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of teeth	Hypoplasia of teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the epiglottis	Hypoplasia of the epiglottis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	35426263, 37043475	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31906878	Stimulate	★☆☆☆☆ Found in Text Mining only
Majewski Syndrome	Majewski Syndrome	BEFREE	21211617, 22482978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	GENOMICS_ENGLAND_DG	21211617		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	CLINVAR_DG	21211617, 22499340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	ORPHANET_DG	21211617, 22499340, 22791528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	CTD_human_DG	21211617, 22499340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	UNIPROT_DG	22499340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30737777, 30928383		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28710492		★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mohr Syndrome	Mohr Syndrome	ORPHANET_DG	27530628		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mohr Syndrome	Mohr Syndrome	BEFREE	28710492		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	28089114		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor Neuron Disease	Motor Neuron Disease	CLINVAR_DG	28089114		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor Neuron Disease	Motor neuron disease	Pubtator	28089114, 37585529	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis IV	Mucopolysaccharidosis	BEFREE	21211617		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24970796		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37849306	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31108397		★☆☆☆☆ Found in Text Mining only
Oral-facial-digital syndrome, type 2	Orofaciodigital syndrome	ORPHANET_DG	27530628		★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome type 2	Orofaciodigital Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	27530628, 28710492	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	21211617		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	21211617	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26546047	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29891719		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33523105, 37328865	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	LHGDN	14690447		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	28710492		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	28710492	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	21211617		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	22499340		★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polysyndactyly of hallux	Polysyndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30737777, 30928383		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	30737777		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31914854	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24970796		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	CTD_human_DG	21211617, 22499340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	31268507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	BEFREE	21211617		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	CTD_human_DG	21211617, 22499340		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short rib-polydactyly syndrome, Beemer type	Short Rib-Polydactyly Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Majewski type	Short Rib-Polydactyly Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Verma-Naumoff type	Short Rib-Polydactyly Syndrome	BEFREE	22795106		★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia axial	Spondylometaphyseal dysplasia	Pubtator	37188479	Associate	★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia, axial	Spondylometaphyseal dysplasia	BEFREE	28123176		★☆☆☆☆ Found in Text Mining only
Submucous cleft soft palate	Submucous cleft of soft and hard palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic dysplasia	Thoracic dysplasia	BEFREE	28710492		★☆☆☆☆ Found in Text Mining only
Thoracic dysplasia	Thoracic dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31906878	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	26317783	Associate	★☆☆☆☆ Found in Text Mining only