TBCK (TBC1 domain containing kinase)

Gene

• Entrez ID: 93627
• Gene name: TBC1 domain containing kinase
• Gene symbol: TBCK
• Synonyms (NCBI Gene): FERRY1, Fy-1, HSPC302, IHPRF3, TBCKL
• Disease Acronyms (UniProt): IHPRF3
• Chromosome: 4
• Chromosome location: 4q24
• Summary: This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mam

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34840340	T>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs62321379	T>C	Likely-pathogenic	Splice acceptor variant
rs374319146	C>A,T	Likely-pathogenic, pathogenic	Intron variant, splice donor variant
rs376699648	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs575822089	G>A	Pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant
rs746860249	T>-,TT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs760715215	C>T	Likely-pathogenic	Splice donor variant
rs762552974	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs771481304	CATT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs869320711	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869320769	->AT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs909658169	AAG>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs1057518332	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1131691329	->A	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs1303851095	C>T	Pathogenic	Splice donor variant
rs1560755661	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC>-	Pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1560929669	ATTA>-	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1579198426	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1579198447	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1579257340	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1579342363	->TTAA	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1579391376	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1579395680	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018768	hsa-miR-335-5p	Microarray	18185580
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT1414192	hsa-miR-203	CLIP-seq
MIRT1414193	hsa-miR-4424	CLIP-seq
MIRT1414194	hsa-miR-3120-5p	CLIP-seq
MIRT1414195	hsa-miR-3169	CLIP-seq
MIRT1414196	hsa-miR-4700-3p	CLIP-seq
MIRT1414197	hsa-miR-4802-5p	CLIP-seq
MIRT1414198	hsa-miR-765	CLIP-seq
MIRT1414194	hsa-miR-3120-5p	CLIP-seq
MIRT2440920	hsa-miR-1208	CLIP-seq
MIRT2440921	hsa-miR-3647-3p	CLIP-seq
MIRT2440922	hsa-miR-3653	CLIP-seq
MIRT2440923	hsa-miR-3658	CLIP-seq
MIRT2440924	hsa-miR-4291	CLIP-seq
MIRT2440925	hsa-miR-545	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004672	Function	Protein kinase activity	NAS	12471243
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005524	Function	ATP binding	NAS	12471243
GO:0005737	Component	Cytoplasm	IDA	24576458
GO:0006468	Process	Protein phosphorylation	NAS	12471243
GO:0006886	Process	Intracellular protein transport	IBA	21873635
GO:0008283	Process	Cell population proliferation	IMP	23977024
GO:0030036	Process	Actin cytoskeleton organization	IMP	23977024
GO:0030496	Component	Midbody	IDA	24576458
GO:0032006	Process	Regulation of TOR signaling	IMP	23977024
GO:0072686	Component	Mitotic spindle	IDA	24576458
GO:0090630	Process	Activation of GTPase activity	IBA	21873635

Other IDs

• MIM: 616899
• HGNC: 28261
• e!Ensembl: ENSG00000145348

Protein

• UniProt ID: Q8TEA7
• Protein name: TBC domain-containing protein kinase-like protein (FERRY endosomal RAB5 effector complex subunit 1) (Fy-1)
• Protein function: Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distr
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	32 → 273	Protein kinase domain	Domain
  PF00566	RabGAP-TBC	470 → 671	Rab-GTPase-TBC domain	Family
  PF00581	Rhodanese	784 → 883	Rhodanese-like domain	Domain

• Sequence:

  MFPLKDAEMGAFTFFASALPHDVCGSNGLPLTPNSIKILGRFQILKTITHPRLCQYVDIS
  RGKHERLVVVAEHCERSLEDLLRERKPVSCSTVLCIAFEVLQGLQYMNKHGIVHRALSPH
  NILLDRKGHIKLAKFGLYHMTAHGDDVDFPIGYPSYLAPEVIAQGIFKTTDHMPSKKPLP
  SGPKSDVWSLGIILFELCVGRKLFQSLDISERLKFLLTLDCVDDTLIVLAEEHGCLDIIK
  ELPETVIDLLNKCLTFHPSKRPTPDQLMKDKVFSEVSPLYTPFTKPASLFSSSLRCADLT
  LPEDISQLCKDINNDYLAERSIEEVYYLWCLAGGDLEKELVNKEIIRSKPPICTLPNFLF
  EDGESFGQGRDRSSLLDDTTVTLSLCQLRNRLKDVGGEAFYPLLEDDQSNLPHSNSNNEL
  SAAATLPLIIREKDTEYQLNRIILFDRLLKAYPYKKNQIWKEARVDIPPLMRGLTWAALL
  GVEGAIHAKYDAIDKDTPIPTDRQIEVDIPRCHQYDELLSSPEGHAKFRRVLKAWVVSHP
  DLVYWQGLDSLCAPFLYLNFNNEALAYACMSAFIPKYLYNFFLKDNSHVIQEYLTVFSQM
  IAFHDPELSNHLNEIGFIPDLYAIPWFLTMFTHVFPLHKIFHLWDTLLLGNSSFPFCIGV
  AILQQLRDRLLANGFNECILLFSDLPEIDIERCVRESINLFCWTPKSATYRQHAQPPKPS
  SDSSGGRSSAPYFSAECPDPPKTDLSRESIPLNDLKSEVSPRISAEDLIDLCELTVTGHF
  KTPSKKTKSSKPKLLVVDIRNSEDFIRGHISGSINIPFSAAFTAEGELTQGPYTAMLQNF
  KGKVIVIVGHVAKHTAEFAAHLVKMKYPRICILDGGINKIKPTGLLTIPSPQI

• Sequence length: 893

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Carcinoma of the head and neck	Squamous cell carcinoma of the head and neck	rs121909237, rs121909250, rs121909251, rs121909252, rs28934571, rs28934574, rs28934576, rs28934578, rs121912664, rs397516436, rs121912666, rs397514495, rs587782705, rs193920774, rs730882001, rs786201838, rs587782144, rs866775781, rs730882008, rs1567549584, rs1597371666, rs1597365075
Colorectal cancer	Adenocarcinoma of large intestine	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Developmental delay	Global developmental delay, Profound global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Epilepsy	Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Hypotonia, with psychomotor retardation and characteristic facies	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3	rs587777038, rs869025188, rs587777068, rs374319146, rs864321623, rs200659479, rs864321622, rs869025317, rs869025318, rs869025319, rs869025320, rs575822089, rs376699648, rs869320769, rs62321379, rs771481304, rs746860249, rs1057518332, rs762552974, rs1131691329, rs1135401813, rs981874506, rs1553523425, rs1553621496, rs1553621490, rs376152742, rs767633598, rs1158771233, rs1555379886, rs1333710212, rs1560755661, rs1560929669, rs1579395680, rs1303851095, rs1579391376, rs751913925, rs1574579609, rs1262654975, rs1575183610, rs1459166839, rs1594134160, rs1031314447, rs1594168638, rs772394714, rs766421214, rs1594211334, rs1594212468, rs1594218864, rs1594759803, rs1594761911, rs1574434743, rs1575179679, rs1594146891, rs1594211051, rs1594168705, rs1594211244, rs1186997983, rs1574855486, rs1579257340, rs1594211911, rs1574574226, rs1575147319	25558065, 23977024, 27040692, 27040691, 18541960, 27748029, 25529582, 27275012
Mental retardation	TBCK-related intellectual disability syndrome	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Rod-cone dystrophy	obsolete Rod-cone dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis			ClinVar
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alcohol Related Disorders	Associate	36317458
Angiofibroma	Associate	27633981
Brain Diseases	Associate	27040692, 29283439, 33001864
Central Nervous System Vascular Malformations	Associate	32363625
Cognition Disorders	Associate	32363625
COVID 19	Associate	38327202
Death	Associate	30591081
Developmental Disabilities	Associate	30591081, 32363625
Diastrophic dysplasia	Inhibit	30591081
Dyslipidemias	Associate	29283439
Epilepsy	Associate	29283439, 30591081
Facial Dysmorphism with Multiple Malformations	Associate	27040691
Hand Foot and Mouth Disease	Associate	32990841
Infant Newborn Diseases	Associate	27040692
Infantile Epileptic Dyskinetic Encephalopathy	Associate	27040692
Intellectual Disability	Associate	27040691, 29283439, 30591081, 37876076
Kidney Neoplasms	Associate	31331056
Leukoencephalopathies	Associate	29283439
Lysosomal Storage Diseases	Associate	29283439, 30591081
Microphthalmia Syndromic 10	Associate	27040691
Muscle Hypotonia	Associate	27040691, 29283439, 30591081, 32363625, 36317458, 37876076
Muscular Atrophy Spinal	Associate	29283439
Muscular Diseases	Associate	32363625
Neurodegenerative Diseases	Associate	29283439
Neurofibromatosis Noonan syndrome	Associate	36317458
Neuronal Ceroid Lipofuscinoses	Associate	30591081
Osteoporosis	Associate	29283439
Pathological Conditions Anatomical	Associate	33001864
Peripheral Nervous System Diseases	Associate	29283439
Psychomotor Disorders	Associate	32363625, 36317458
Pyruvate Kinase Deficiency of Red Cells	Inhibit	30591081
Seizures	Associate	32363625
Thakker Donnai syndrome	Associate	32363625
Tic Disorders	Associate	30591081