CDKL5 (cyclin dependent kinase like 5)

Gene

• Entrez ID: 6792
• Gene name: Cyclin dependent kinase like 5
• Gene symbol: CDKL5
• Synonyms (NCBI Gene): CFAP247, DEE2, EIEE2, ISSX, STK9
• Chromosome: X
• Chromosome location: Xp22.13
• Summary: This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17857094	C>T	Pathogenic	Coding sequence variant, stop gained
rs61749700	A>T	Pathogenic	Coding sequence variant, missense variant
rs61749704	C>T	Pathogenic	Coding sequence variant, missense variant
rs61750250	TTGGACCCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs61753251	CT>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs62641235	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs62643608	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs62643614	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs62653623	C>T	Pathogenic	Coding sequence variant, stop gained
rs122460157	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs122460158	C>T	Pathogenic	Coding sequence variant, stop gained
rs122460159	C>T	Pathogenic	Coding sequence variant, missense variant
rs138125282	C>G,T	Likely-benign, likely-pathogenic	Coding sequence variant, synonymous variant
rs140332992	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, synonymous variant
rs267606713	C>T	Pathogenic	Missense variant, coding sequence variant
rs267606714	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606715	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs267608395	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608415	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608418	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs267608419	T>-	Pathogenic, not-provided	Splice donor variant
rs267608420	->G	Pathogenic, not-provided	Coding sequence variant, splice acceptor variant
rs267608421	G>T	Pathogenic, likely-pathogenic, not-provided	Splice donor variant
rs267608423	A>G	Pathogenic, not-provided	Splice acceptor variant
rs267608429	A>G	Pathogenic	Missense variant, coding sequence variant
rs267608430	T>C	Pathogenic, not-provided	Splice donor variant
rs267608433	GAAA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs267608435	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs267608437	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs267608441	GAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608453	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608468	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs267608472	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608474	G>A,T	Not-provided, pathogenic	Splice acceptor variant
rs267608477	T>A,G	Pathogenic	Coding sequence variant, stop gained
rs267608479	G>A	Pathogenic, not-provided	Splice donor variant
rs267608480	A>G	Pathogenic, not-provided	Splice acceptor variant
rs267608490	C>A,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs267608493	C>A,T	Likely-pathogenic, pathogenic	Synonymous variant, missense variant, coding sequence variant
rs267608497	->A	Pathogenic	Frameshift variant, coding sequence variant
rs267608500	A>G	Pathogenic	Missense variant, coding sequence variant
rs267608501	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs267608505	G>T	Pathogenic	Coding sequence variant, stop gained
rs267608511	T>C	Pathogenic	Missense variant, coding sequence variant
rs267608515	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs267608528	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608532	A>C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267608537	->A	Pathogenic	Frameshift variant, coding sequence variant
rs267608542	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608546	->GA	Pathogenic	Frameshift variant, coding sequence variant
rs267608552	->A	Pathogenic	Frameshift variant, coding sequence variant
rs267608553	A>G	Pathogenic, not-provided	Splice acceptor variant
rs267608561	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608565	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608566	->C	Pathogenic	Frameshift variant, coding sequence variant
rs267608618	C>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs267608623	->C	Pathogenic	Frameshift variant, coding sequence variant
rs267608643	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608644	G>T	Pathogenic	Coding sequence variant, stop gained
rs267608646	->TA	Pathogenic	Coding sequence variant, stop gained
rs267608647	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608648	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs267608650	G>A	Pathogenic, not-provided	Splice acceptor variant
rs267608651	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608653	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs267608654	GAGA>-,GA	Pathogenic	Frameshift variant, coding sequence variant
rs267608655	AGAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608656	G>A,C	Pathogenic, not-provided	Splice donor variant
rs267608657	G>A	Likely-pathogenic, not-provided	Intron variant
rs267608659	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs267608660	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608661	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608662	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608663	C>T	Pathogenic	Coding sequence variant, stop gained
rs587783071	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783072	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587783073	G>T	Pathogenic	Stop gained, coding sequence variant
rs587783074	A>T	Pathogenic	Stop gained, coding sequence variant
rs587783075	T>G	Pathogenic	Splice donor variant
rs587783077	T>A	Pathogenic	Stop gained, coding sequence variant
rs587783078	T>G	Pathogenic	Missense variant, coding sequence variant
rs587783079	C>A	Likely-pathogenic	Intron variant
rs587783080	A>G	Pathogenic	Splice acceptor variant
rs587783081	C>T	Pathogenic	Missense variant, coding sequence variant
rs587783083	A>G	Pathogenic	Missense variant, coding sequence variant
rs587783084	T>A,C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587783085	A>C	Pathogenic	Missense variant, coding sequence variant
rs587783086	G>A	Pathogenic	Missense variant, coding sequence variant
rs587783087	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783088	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783089	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783109	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783110	A>-	Pathogenic	Intron variant
rs587783111	ACTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783112	->C	Pathogenic	Frameshift variant, coding sequence variant
rs587783113	GAAAGCTCTCAAAGCAAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783114	GGCCAA>-	Likely-benign, conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs587783115	->A	Pathogenic	Frameshift variant, coding sequence variant
rs587783116	->A	Pathogenic	Frameshift variant, coding sequence variant
rs587783117	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs587783118	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783119	CA>-	Pathogenic	Stop gained, inframe indel, coding sequence variant
rs587783120	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783121	->A	Pathogenic	Frameshift variant, coding sequence variant
rs587783123	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783124	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783125	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783126	->T	Pathogenic	Frameshift variant, coding sequence variant
rs587783130	G>A	Pathogenic	Missense variant, coding sequence variant
rs587783131	G>A	Pathogenic	Intron variant
rs587783145	C>G	Pathogenic	Stop gained, coding sequence variant
rs587783149	G>C	Pathogenic	Splice acceptor variant
rs587783151	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783154	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587783155	T>G	Pathogenic	Splice donor variant
rs587783158	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783159	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783398	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783399	G>A	Pathogenic	Splice acceptor variant
rs587783401	->C	Pathogenic	Frameshift variant, coding sequence variant
rs587783405	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783406	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs756986206	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs757402424	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs766511365	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs786204960	ATT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs786204962	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786204963	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786204964	GTCTCACCACAGATCTAACAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204965	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204966	G>T	Pathogenic	Stop gained, coding sequence variant
rs786204967	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204968	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204969	C>T	Pathogenic	Stop gained, coding sequence variant
rs786204970	->A	Pathogenic	Frameshift variant, coding sequence variant
rs786204971	->T	Pathogenic	Frameshift variant, coding sequence variant
rs786204972	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204973	A>G	Pathogenic	Splice acceptor variant
rs786204974	->G	Pathogenic	Frameshift variant, coding sequence variant
rs786204975	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204976	G>A	Likely-pathogenic, pathogenic	Splice donor variant
rs786204977	GGAAAAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204978	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204979	A>G	Pathogenic	Splice acceptor variant
rs786204980	->A	Pathogenic	Frameshift variant, coding sequence variant
rs786204981	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs786204982	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs786204983	TAGAATATGCT>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs786204984	G>A	Pathogenic	Splice donor variant
rs786204985	A>G	Pathogenic	Missense variant, coding sequence variant
rs786204986	G>A	Pathogenic	Splice acceptor variant
rs786204987	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204988	->GT	Pathogenic	Frameshift variant, coding sequence variant
rs786204989	G>T	Pathogenic	Missense variant, coding sequence variant
rs786204990	->TTTTA	Pathogenic	Frameshift variant, coding sequence variant
rs786204991	A>G	Pathogenic	Missense variant, coding sequence variant
rs786204992	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727063	ATAGGGCAAGGGATGGCAGCTAGAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727064	C>G	Pathogenic	Stop gained, coding sequence variant
rs797044858	G>A	Pathogenic	Missense variant, coding sequence variant
rs863225065	C>T	Pathogenic	Stop gained, coding sequence variant
rs863225289	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs863225290	A>G	Pathogenic	Missense variant, coding sequence variant
rs875989880	->T	Pathogenic	Frameshift variant, coding sequence variant
rs875989950	T>A	Pathogenic	Stop gained, coding sequence variant
rs886041673	G>T	Pathogenic	Stop gained, coding sequence variant
rs886041764	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041872	G>T	Pathogenic	Stop gained, coding sequence variant
rs886042014	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886042899	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043296	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043742	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs886044424	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1057518203	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057518759	->GC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057519541	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057519542	->GACC	Pathogenic	Frameshift variant, coding sequence variant
rs1057521806	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524663	A>G	Pathogenic	Missense variant, coding sequence variant
rs1060501859	A>G	Likely-pathogenic	Splice acceptor variant
rs1060501860	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793376	TT>-,T	Pathogenic	Frameshift variant, coding sequence variant
rs1064793381	AGTCTCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794734	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794919	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795672	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796503	GTTCTGGAACCAACCACTCAAAAAGACAACCAGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1085307470	C>G	Pathogenic	Coding sequence variant, stop gained
rs1085307934	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691376	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691926	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1189749755	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555940533	G>A	Pathogenic	Splice acceptor variant
rs1555940536	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555947847	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555949009	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555949011	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555949033	->ATTTC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555949041	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555949752	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555949763	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555950066	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555950083	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1555950455	A>G	Pathogenic	Splice acceptor variant
rs1555950465	->GCGA	Pathogenic	Frameshift variant, coding sequence variant
rs1555950468	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555950470	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555950486	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555950494	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555951141	G>TC	Pathogenic	Frameshift variant, coding sequence variant
rs1555951142	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555951146	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555951954	AAACCTTGCTGGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555951958	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555951981	->AC	Pathogenic	Frameshift variant, coding sequence variant
rs1555951991	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555952015	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555952052	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555952063	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555952078	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555952101	ACCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555952163	CAGGT>A	Pathogenic	Coding sequence variant, splice donor variant
rs1555952732	G>A	Pathogenic	Splice donor variant
rs1555954074	C>A,G	Pathogenic	Stop gained, coding sequence variant
rs1555954078	AAGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555954737	CCAAAGGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555954752	->CAGATCT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555955237	CAACAAACCAAAAATTCCTTCTCA>G	Pathogenic	Frameshift variant, coding sequence variant
rs1555955290	GA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1555955296	C>T	Uncertain-significance, pathogenic	Intron variant, stop gained, coding sequence variant
rs1569213054	G>T	Pathogenic	Splice donor variant
rs1569213917	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569215594	T>G	Pathogenic	Coding sequence variant, missense variant
rs1569215629	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569215645	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569215664	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569218019	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569219331	ACCTA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569219346	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569219844	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569220754	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1569220925	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602232972	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1602263431	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1602269367	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1602271643	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1602271692	G>A	Pathogenic	Coding sequence variant, missense variant
rs1602271715	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602271718	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602274251	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602276166	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602280455	->G	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1602282692	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1602282699	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602282705	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs1602286005	C>T	Pathogenic	Coding sequence variant, synonymous variant
rs1602286285	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602286391	->TAGGA	Pathogenic	Coding sequence variant, frameshift variant
rs1602286449	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602286792	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1602286899	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602292181	G>A	Pathogenic	Splice donor variant
rs1602295727	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602295779	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602298653	C>G	Pathogenic	Coding sequence variant, stop gained
rs1602300816	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1602300837	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046657	hsa-miR-222-3p	CLASH	23622248

Transcription factors

Transcription factor	Regulation	Reference
MECP2	Unknown	16330482
MEF2C	Unknown	20513142

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001764	Process	Neuron migration	ISS
GO:0004672	Function	Protein kinase activity	IBA
GO:0004672	Function	Protein kinase activity	IDA	16935860
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	9721213
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	21653829, 28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IDA	16935860
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16935860
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	29420175
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0016301	Function	Kinase activity	IDA	15917271
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031267	Function	Small GTPase binding	ISS
GO:0032587	Component	Ruffle membrane	ISS
GO:0032839	Component	Dendrite cytoplasm	IBA
GO:0032839	Component	Dendrite cytoplasm	ISS
GO:0035022	Process	Positive regulation of Rac protein signal transduction	ISS
GO:0036064	Component	Ciliary basal body	IDA	29420175
GO:0042995	Component	Cell projection	IEA
GO:0044294	Component	Dendritic growth cone	ISS
GO:0045773	Process	Positive regulation of axon extension	IBA
GO:0045773	Process	Positive regulation of axon extension	ISS
GO:0050773	Process	Regulation of dendrite development	IBA
GO:0050773	Process	Regulation of dendrite development	ISS
GO:0050775	Process	Positive regulation of dendrite morphogenesis	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	22922712
GO:0050804	Process	Modulation of chemical synaptic transmission	IMP	22922712
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0097542	Component	Ciliary tip	IDA	29420175
GO:0098978	Component	Glutamatergic synapse	IDA	22922712
GO:0098978	Component	Glutamatergic synapse	IMP	22922712
GO:0099175	Process	Regulation of postsynapse organization	IDA	22922712
GO:0099175	Process	Regulation of postsynapse organization	IMP	22922712
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1902017	Process	Regulation of cilium assembly	IMP	29420175

Other IDs

• MIM: 300203
• HGNC: 11411
• e!Ensembl: ENSG00000008086

Protein

• UniProt ID: O76039
• Protein name: Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Serine/threonine-protein kinase 9)
• Protein function: Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175).
• PDB: 4BGQ, 8CIE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	13 → 297	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.; TISSUE SPECIFICITY: [Isoform 2]: Predominant transcript in brain. {ECO:0000269|PubMed:21748340}.
• Sequence:

  MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRE
  LKMLRTLKQENIVELKEAFRRRGKLYLVFEYVEKNMLELLEEMPNGVPPEKVKSYIYQLI
  KAIHWCHKNDIVHRDIKPENLLISHNDVLKLCDFGFARNLSEGNNANYTEYVATRWYRSP
  ELLLGAPYGKSVDMWSVGCILGELSDGQPLFPGESEIDQLFTIQKVLGPLPSEQMKLFYS
  NPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKLDPADRYLTEQCLNHPTFQTQ
  RLLDRSPSRSAKRKPYHVESSTLSNRNQAGKSTALQSHHRSNSKDIQNLSVGLPRADEGL
  PANESFLNGNLAGASLSPLHTKTYQASSQPGSTSKDLTNNNIPHLLSPKEAKSKTEFDFN
  IDPKPSEGPGTKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSP
  SYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRT
  LLSPSGRNNRNEGTLDSRRTTTRHSKTMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTS
  PFSSQQRPHRHSMYVTRDKVRAKGLDGSLSIGQGMAARANSLQLLSPQPGEQLPPEMTVA
  RSSVKETSREGTSSFHTRQKSEGGVYHDPHSDDGTAPKENRHLYNDPVPRRVGSFYRVPS
  PRPDNSFHENNVSTRVSSLPSESSSGTNHSKRQPAFDPWKSPENISHSEQLKEKEKQGFF
  RSMKKKKKKSQTVPNSDSPDLLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQPLKSLR
  KLLHLSSASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIRQEPAPKGRPA
  LQLPGQMDPGWHVSSVTRSATEGPSYSEQLGAKSGPNGHPYNRTNRSRMPNLNDLKETAL
  

• Sequence length: 960

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
Abnormality of the nervous system	Likely pathogenic	rs1602280455	RCV001814246	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angelman syndrome	Pathogenic	rs267608546	RCV000133391	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angelman syndrome-like	Pathogenic; Likely pathogenic	rs267606715, rs1925577525, rs1925423909, rs1925492354, rs1925493252, rs2147139605, rs2147139522, rs2147139669, rs2147143992, rs267608436, rs267608490, rs2147145565, rs267608493, rs2147145614, rs2147160237, rs2147160886, rs2147161353, rs2147164191, rs2147178955, rs2147178971, rs2147148032, rs2147160115, rs2147156107, rs1926838663, rs2147145500, rs2147132235, rs2147175902, rs587783149, rs2147148092, rs2147161009, rs2147160162, rs2147179071, rs2147167604, rs267608480, rs2147167570, rs2147147996, rs2147153531, rs2147142599, rs2147161299, rs2147164676, rs267608421, rs2147132223, rs267608500, rs2147160749, rs2147160283, rs2147144049, rs2147156094, rs267608433, rs267608643, rs267608395, rs62653623, rs267608441, rs267608654, rs62643614, rs61753251, rs267608468, rs267608472, rs267608501, rs267608418, rs267608511, rs267608423, rs267608650, rs267608479, rs587783080, rs587783111, rs587783123, rs587783158, rs2147132274, rs2518781132, rs2518834440, rs2518857357, rs2518864219, rs786204962, rs786204987, rs786204989, rs786204967, rs786204969, rs786204976, rs267606713, rs863225066, rs2518875430, rs2518890612, rs2518776931, rs2518864230, rs2518881309, rs2518853631, rs2518880338, rs2518853437, rs2518873890, rs1569218064, rs1555950486, rs2518873766, rs2518849265, rs2518874652, rs2518874157, rs2518851425, rs2518881185, rs2518868022, rs122460158, rs122460159, rs62641235, rs886042899, rs886043453, rs1555952732, rs2518857554, rs2518884945, rs2518874058, rs2518851314, rs2518781124, rs2518874530, rs1085307470, rs2518857400, rs1064794734, rs2518894988, rs2518776876, rs2518895113, rs2518849341, rs2518890460, rs1602292181, rs2518873820, rs2518844542, rs2518864177, rs2518898617, rs2518851267, rs2518884926, rs2518853500, rs2518853529, rs2518844536, rs2518875232, rs2518776911, rs2518874193, rs1057518203, rs1060501860, rs1060501859, rs1064795672, rs1555955290, rs1555951991, rs1555949041, rs1555952052, rs1555954074, rs1555951146, rs122460157, rs1555949011, rs1555950066, rs1555950465, rs1555950494, rs1569218019, rs1569213054, rs1569215594, rs1569215629, rs1569220925, rs1569225454, rs1602230515, rs1602272932, rs1602295727, rs1602300816, rs1602300837, rs1602232972, rs1602298653, rs1602295779, rs1924899673, rs1925261282, rs1310022305, rs1925492808, rs1925697823, rs1926080344, rs1926283743, rs1926298521, rs1926305134, rs1926617807, rs786204986, rs1925705674, rs1925418549, rs1922605766, rs1926450614, rs1926078505, rs1926080187, rs1926620965, rs1925696959	RCV001201864 RCV001320410 RCV001351068 RCV001341921 RCV001340524 RCV001360583 RCV001378614 RCV001378902 RCV001378443 RCV001385375 RCV001385704 RCV001382473 RCV001383655 RCV001386231 RCV001385428 RCV001385749 RCV001383236 RCV001385376 RCV001389577 RCV001382269 RCV001926048 RCV001866346 RCV002037703 RCV001899898 RCV001881738 RCV001975877 RCV001889786 RCV002045366 RCV002022681 RCV001926187 RCV002007237 RCV002037859 RCV001993155 RCV002000131 RCV001993388 RCV001972460 RCV001946820 RCV001972378 RCV001896737 RCV001942309 RCV002046020 RCV001972562 RCV001941208 RCV001959030 RCV002042241 RCV001909294 RCV001940015 RCV001068312 RCV001244788 RCV000694251 RCV001385702 RCV001849963 RCV003764876 RCV000694825 RCV000229531 RCV001071921 RCV001849964 RCV003764877 RCV000544362 RCV000812193 RCV002515935 RCV000640488 RCV001046060 RCV001385706 RCV002512557 RCV001215542 RCV002515944 RCV001386312 RCV002515946 RCV005213629 RCV002299296 RCV003064672 RCV003059895 RCV003050590 RCV001850412 RCV003765059 RCV001850413 RCV001385705 RCV003765058 RCV000536060 RCV003085978 RCV003776058 RCV003112433 RCV001857739 RCV002815464 RCV002806805 RCV002811060 RCV002825693 RCV002829253 RCV002875812 RCV002858399 RCV002894642 RCV002872759 RCV002894386 RCV002895343 RCV003023061 RCV003023529 RCV003038962 RCV003055005 RCV003051655 RCV003055763 RCV003045107 RCV003764559 RCV000699210 RCV001385703 RCV005222867 RCV001379966 RCV003783753 RCV003781592 RCV003782973 RCV003779463 RCV003807749 RCV003807977 RCV003808206 RCV003806376 RCV003804532 RCV003805464 RCV003803997 RCV003805325 RCV003801287 RCV003802609 RCV003802737 RCV003800278 RCV003808462 RCV003808679 RCV003800719 RCV003800753 RCV003801963 RCV003802065 RCV003817697 RCV003801724 RCV003809950 RCV003810032 RCV003802554 RCV003812299 RCV003810298 RCV001035195 RCV000807507 RCV000464248 RCV000474894 RCV001244046 RCV003766891 RCV000560461 RCV000541690 RCV000535244 RCV000548702 RCV001047013 RCV002530871 RCV000640485 RCV000640483 RCV000640490 RCV000640491 RCV001229805 RCV000705991 RCV000687369 RCV000699805 RCV000698605 RCV000694793 RCV000816804 RCV000815876 RCV000808221 RCV000819555 RCV000803646 RCV000797135 RCV001371944 RCV002550618 RCV001860565 RCV003769414 RCV001047599 RCV001063549 RCV001067845 RCV001062625 RCV001058028 RCV001041809 RCV001048608 RCV001039543 RCV001062137 RCV001042645 RCV001063201 RCV001035473 RCV001070396 RCV001301919 RCV001204295 RCV001218207 RCV001218250 RCV001230939 RCV001227068 RCV001246449 RCV001244296 RCV001237801 RCV001303322	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atypical Rett syndrome	Pathogenic; Likely pathogenic	rs267608623, rs267608433, rs267608643, rs267608395, rs267608644, rs62653623, rs62643608, rs267608646, rs62641235, rs62643614, rs61753251, rs267608453, rs267608468, rs267608493, rs267608505, rs61750250, rs267608430, rs267608650, rs267608657, rs267608479, rs786204983, rs786204984, rs786204986, rs786204988, rs786204989, rs786204963, rs786204990, rs786204992, rs786204966, rs786204968, rs786204969, rs786204970, rs786204972, rs786204975, rs786204976, rs786204981, rs122460157, rs61749700, rs122460158, rs122460159	RCV000133321 RCV000133326 RCV000169916 RCV000169917 RCV000133329 RCV000170010 RCV000170012 RCV000133334 RCV000133344 RCV000133348 RCV000169918 RCV000133365 RCV000169914 RCV000169986 RCV000133380 RCV000133385 RCV000169999 RCV000170016 RCV000169983 RCV000170044 RCV000170037 RCV000170038 RCV000170045 RCV000170048 RCV000170050 RCV000169988 RCV000170053 RCV000170056 RCV000169993 RCV000169995 RCV000169996 RCV000169997 RCV000170001 RCV000170014 RCV000170015 RCV000170034 RCV000133370 RCV000133372 RCV000133352 RCV000133317	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autism	Pathogenic; Likely pathogenic	rs62643608, rs2518898936	RCV000170013 RCV003328509	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CDKL5 disorder	Pathogenic; Likely pathogenic	rs267606715, rs267608490, rs2147145565, rs2147145500, rs2147164676, rs2147160749, rs267608561, rs267608565, rs267608566, rs267608618, rs267608429, rs267608623, rs267608433, rs267608643, rs267608395, rs267608644, rs62653623, rs62643608, rs267608646, rs267608647, rs267608648, rs267608651, rs267608653, rs62641235, rs267608441, rs267608654, rs62643614, rs267608655, rs267608659, rs267608660, rs267608661, rs267608663, rs61753251, rs267608453, rs267608468, rs267608415, rs267608472, rs267608477, rs267608493, rs61749704, rs267608497, rs267608500, rs267608501, rs267608418, rs267608505, rs267608511, rs267608420, rs267608528, rs61750250, rs267608532, rs267608537, rs267608542, rs267608546, rs267608552, rs267608423, rs267608430, rs267608650, rs267608656, rs267608657, rs267608479, rs267608480, rs267608419, rs267608553, rs267608421, rs587783073, rs587783077, rs587783080, rs587783115, rs587783131, rs2147145603, rs587783406, rs587783399, rs587783084, rs2518864113, rs2518781128, rs2518851383, rs2518864219, rs786204973, rs786204962, rs786204977, rs786204982, rs786204983, rs786204984, rs267608474, rs786204985, rs786204986, rs786204987, rs786204988, rs786204989, rs786204963, rs786204990, rs786204992, rs786204964, rs786204965, rs786204966, rs786204967, rs786204968, rs786204969, rs786204970, rs786204971, rs786204972, rs786204974, rs786204975, rs786204976, rs786204978, rs786204979, rs17857094, rs786204980, rs786204981, rs267606713, rs863225066, rs2518849265, rs1925423909, rs122460157, rs61749700, rs122460158, rs122460159, rs886043453, rs1057518203, rs1555951981, rs1555950083, rs1555955296, rs1555949009, rs1555951958, rs1555952732, rs1555949011, rs1569215629, rs1569220754, rs1602272932, rs1602300837, rs1602232972, rs1602292181, rs1602295779, rs1925418549, rs1925420814, rs1925573011, rs1927142990, rs1927001903, rs1925701271, rs1927139054, rs1922605766, rs1925696959	RCV001507061 RCV005053984 RCV005053983 RCV003448429 RCV004728991 RCV004728995 RCV004724834 RCV004724835 RCV004724836 RCV004724837 RCV004724838 RCV004597750 RCV004724843 RCV004724844 RCV004724845 RCV004724846 RCV004724847 RCV004724849 RCV004724850 RCV004724852 RCV004724854 RCV004724855 RCV004724856 RCV004724857 RCV004724858 RCV004724860 RCV004724861 RCV005245483 RCV004724862 RCV005245484 RCV004724864 RCV004724865 RCV004724866 RCV004724867 RCV004724871 RCV004724872 RCV004724873 RCV004724874 RCV004724875 RCV001507047 RCV004724876 RCV004724877 RCV004724878 RCV001507046 RCV004724879 RCV004724880 RCV004724881 RCV004724882 RCV004724883 RCV004724885 RCV004724886 RCV004724887 RCV004724888 RCV004724889 RCV004724890 RCV004724892 RCV004724893 RCV004724894 RCV004724896 RCV004724899 RCV004724900 RCV004724901 RCV004724906 RCV004724908 RCV004724910 RCV004724912 RCV004724913 RCV004724915 RCV004724916 RCV005053927 RCV004724918 RCV005245489 RCV004729131 RCV004724924 RCV001507032 RCV004724923 RCV004725257 RCV005053996 RCV004725300 RCV004725490 RCV004724990 RCV004724980 RCV004724994 RCV004725000 RCV004725001 RCV004725002 RCV004725004 RCV004725005 RCV004725006 RCV004725007 RCV004725008 RCV004725010 RCV004724981 RCV004725011 RCV004725013 RCV004724982 RCV004724983 RCV004724984 RCV001507057 RCV004724985 RCV004724986 RCV004724987 RCV004724988 RCV004724989 RCV004724991 RCV004724992 RCV004724993 RCV004724995 RCV004724996 RCV004724997 RCV004724998 RCV004724999 RCV006272317 RCV005054000 RCV003235124 RCV005053998 RCV004725668 RCV004724734 RCV004724735 RCV004724736 RCV001507073 RCV001507029 RCV003235178 RCV004724751 RCV005053942 RCV001507070 RCV005053948 RCV002281117 RCV005053950 RCV004722964 RCV004722986 RCV004723018 RCV004723103 RCV004723156 RCV003235409 RCV002281134 RCV003235440 RCV004726774 RCV005245507 RCV003235465 RCV005053969 RCV005053968 RCV005053967 RCV005053971 RCV004726916 RCV005053972 RCV001507056 RCV002281167 RCV004727108	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CDKL5-related disorder	Pathogenic; Likely pathogenic	rs62653623, rs267608468, rs587783124, rs786204987, rs1927146242	RCV004532618 RCV004528868 RCV004544328 RCV004528925 RCV001090138	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy	Pathogenic	rs1555955296, rs1555951141	RCV004017682 RCV000627059	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 1	Likely pathogenic	rs2518851309	RCV002284133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 2	Pathogenic; Likely pathogenic	rs267606715, rs1925577525, rs1925423909, rs1925492354, rs1925493252, rs2147139605, rs2147139522, rs2147139669, rs2147143992, rs267608436, rs267608490, rs2147145565, rs267608493, rs2147145614, rs2147160237, rs2147160886, rs2147161353, rs2147164191, rs2147178955, rs2147178971, rs2147139674, rs2147160942, rs2147148013, rs2147179000, rs2147153521, rs2147160726, rs2147148032, rs2147160115, rs2147156107, rs1926838663, rs2147145500, rs2147132235, rs2147175902, rs587783149, rs2147148092, rs2147161009, rs2147160162, rs2147179071, rs2147167604, rs267608480, rs2147167570, rs2147147996, rs2147153531, rs2147142599, rs2147161299, rs2147164676, rs267608421, rs2147132223, rs267608500, rs2147160749, rs2147160283, rs2147144049, rs2147156094, rs267608561, rs267608565, rs267608566, rs267608618, rs267608429, rs267608433, rs267608643, rs267608395, rs62653623, rs62643608, rs267608647, rs267608648, rs267608651, rs267608653, rs267608441, rs267608654, rs62643614, rs267608655, rs267608659, rs267608660, rs267608661, rs267608662, rs267608663, rs61753251, rs267608468, rs267608415, rs267608472, rs267608477, rs61749704, rs267608497, rs267608501, rs267608418, rs267608511, rs267608420, rs267608528, rs267608532, rs267608537, rs267608542, rs267608546, rs267608552, rs267608423, rs267608650, rs267608656, rs267608474, rs267608479, rs267608419, rs267608553, rs587783080, rs587783087, rs587783111, rs587783115, rs587783123, rs587783131, rs587783158, rs2147132274, rs2147139684, rs2147142645, rs2147148055, rs2147156191, rs2147160087, rs751789670, rs587783406, rs587783399, rs587783084, rs587783405, rs587783398, rs587783401, rs2518853563, rs2518781132, rs2518857486, rs2518864113, rs2518844612, rs2518781128, rs2518857411, rs2518851383, rs2518834440, rs2518857357, rs2518864219, rs786204973, rs786204962, rs786204977, rs786204982, rs786204983, rs786204984, rs786204985, rs786204987, rs786204989, rs786204992, rs786204964, rs786204967, rs786204969, rs786204974, rs786204976, rs786204978, rs786204979, rs17857094, rs267606713, rs863225066, rs2518875430, rs2518890612, rs2518776931, rs2518864230, rs2518881309, rs2518853631, rs2518880338, rs2518853437, rs2518873890, rs1569218064, rs1555950486, rs863225290, rs863225289, rs2518873766, rs2518849265, rs2518874652, rs2518874157, rs2518851425, rs2518881185, rs2518868022, rs875989880, rs875989950, rs2518867690, rs2518853508, rs2518844555, rs2518849210, rs2518880329, rs122460157, rs61749700, rs122460158, rs122460159, rs62641235, rs886042899, rs886043453, rs2518849359, rs2518853557, rs2518874564, rs1555952732, rs2518857554, rs2518884945, rs2518874058, rs2518851314, rs2518781124, rs2518874530, rs1085307470, rs2518857400, rs1064794734, rs2518894988, rs2518776876, rs2518895113, rs2518849341, rs2518890460, rs1602292181, rs2518873820, rs2518844542, rs2518864177, rs2518898617, rs2518851267, rs2518884926, rs2518853500, rs2518853529, rs2518844536, rs2518875232, rs2518776911, rs2518874193, rs2518922040, rs2518875266, rs1057518203, rs1060501860, rs1060501859, rs1064795672, rs1555952015, rs1555952101, rs1555954078, rs1555955290, rs1555951991, rs1555949041, rs1555952052, rs1555954074, rs1555949763, rs1555950083, rs1555951146, rs1555955296, rs1555949009, rs1555949011, rs1555950066, rs1555950465, rs1555950494, rs1555954737, rs1569218019, rs1569213054, rs1569215594, rs1569215629, rs1569220925, rs1569225454, rs1569213917, rs1569219331, rs1602230515, rs1602272932, rs1602295727, rs1602300816, rs1602300837, rs1602232972, rs1602269367, rs1602271718, rs1602280455, rs1602286391, rs1602286792, rs1602286899, rs1602298653, rs1602263431, rs1602282699, rs1602295779, rs1924899673, rs1925261282, rs1310022305, rs1925492808, rs1925697823, rs1926080344, rs1926283743, rs1926298521, rs1926305134, rs1926617807, rs786204986, rs1925705674, rs1925418549, rs1925420814, rs1925573011, rs1926283887, rs1926303951, rs1926616715, rs1926837956, rs1927142990, rs1922607301, rs1925421198, rs886042303, rs1925701271, rs1926298368, rs1927139054, rs1922605766, rs1926450614, rs1926078505, rs1926080187, rs1926620965, rs1922607139, rs1925697105, rs1926261579, rs1926301954, rs1926471092, rs1926262196, rs1925574557, rs1925696959	RCV000169920 RCV001320410 RCV001351068 RCV001341921 RCV001340524 RCV001360583 RCV001378614 RCV001378902 RCV001378443 RCV001385375 RCV001385704 RCV001382473 RCV001383655 RCV001386231 RCV001385428 RCV001385749 RCV001383236 RCV001385376 RCV001389577 RCV001382269 RCV001542413 RCV001542507 RCV001775323 RCV001780474 RCV001780475 RCV001842259 RCV001926048 RCV001866346 RCV002037703 RCV001899898 RCV001881738 RCV001975877 RCV001889786 RCV002045366 RCV002022681 RCV001926187 RCV002007237 RCV002037859 RCV001993155 RCV002000131 RCV001993388 RCV001972460 RCV001946820 RCV001972378 RCV001896737 RCV001942309 RCV002046020 RCV001972562 RCV001941208 RCV001959030 RCV002042241 RCV001909294 RCV001940015 RCV000133313 RCV000133314 RCV000133315 RCV000133318 RCV000145514 RCV000170008 RCV000170009 RCV000145521 RCV000145523 RCV000133332 RCV000145526 RCV000133339 RCV000133340 RCV000133342 RCV000169912 RCV000133346 RCV000133347 RCV000694825 RCV000133349 RCV000145530 RCV000133353 RCV000133354 RCV000145532 RCV000145533 RCV000145535 RCV001071921 RCV000133367 RCV000169919 RCV000133369 RCV000145541 RCV000544362 RCV000133375 RCV000192825 RCV000145543 RCV000145544 RCV000133379 RCV000133381 RCV000193845 RCV000133384 RCV000145547 RCV000133388 RCV000133390 RCV000012261 RCV000133393 RCV000169990 RCV001385706 RCV000170020 RCV000170021 RCV000170042 RCV002512557 RCV000170046 RCV000170051 RCV000170057 RCV000170058 RCV001215542 RCV000990480 RCV002515944 RCV003137646 RCV001386312 RCV000170059 RCV000145534 RCV002249332 RCV002249333 RCV002249334 RCV002249335 RCV002249336 RCV002249337 RCV002249338 RCV000145546 RCV000145520 RCV000145542 RCV000145545 RCV000145517 RCV000145524 RCV002289184 RCV002299296 RCV002306440 RCV005635527 RCV005869828 RCV002466313 RCV002466381 RCV002468819 RCV002472209 RCV003064672 RCV003059895 RCV003050590 RCV000170007 RCV001850412 RCV000170017 RCV000170035 RCV000170036 RCV003444105 RCV000170041 RCV000170043 RCV000170047 RCV001850413 RCV005632281 RCV000169991 RCV001385705 RCV003765058 RCV000170011 RCV000536060 RCV000170018 RCV000170019 RCV000170023 RCV003085978 RCV003776058 RCV003112433 RCV001857739 RCV002815464 RCV002806805 RCV002811060 RCV002825693 RCV002829253 RCV002875812 RCV002858399 RCV002894642 RCV002872759 RCV002894386 RCV002895343 RCV000201944 RCV000201936 RCV003023061 RCV003023529 RCV003038962 RCV003055005 RCV003051655 RCV003055763 RCV003045107 RCV000211460 RCV000211584 RCV003140526 RCV003152904 RCV003153094 RCV003153205 RCV003155006 RCV003333247 RCV000012251 RCV000012252 RCV000012255 RCV000012257 RCV000012258 RCV005222867 RCV001379966 RCV003326181 RCV003326207 RCV003338100 RCV003482206 RCV005254814 RCV003783753 RCV003781592 RCV003782973 RCV003779463 RCV003807749 RCV003807977 RCV003808206 RCV003806376 RCV003804532 RCV003805464 RCV003803997 RCV003805325 RCV003801287 RCV003802609 RCV003802737 RCV003800278 RCV003808462 RCV003808679 RCV003800719 RCV003800753 RCV003801963 RCV003802065 RCV003817697 RCV003801724 RCV003809950 RCV003810032 RCV003802554 RCV003812299 RCV003810298 RCV003985990 RCV000012262 RCV004547390 RCV000807507 RCV000464248 RCV000474894 RCV001244046 RCV000501064 RCV000503987 RCV000500125 RCV003766891 RCV000560461 RCV000541690 RCV000535244 RCV000548702 RCV000578449 RCV000578286 RCV001047013 RCV000735202 RCV000585862 RCV000585869 RCV000640485 RCV000640483 RCV000640490 RCV000640491 RCV000662019 RCV000679944 RCV000705991 RCV000687369 RCV000699805 RCV000698605 RCV000694793 RCV000760269 RCV000767923 RCV000816804 RCV000815876 RCV000808221 RCV000819555 RCV000803646 RCV000797135 RCV000990475 RCV000990476 RCV000990478 RCV000990479 RCV000990481 RCV000990482 RCV000990484 RCV000990486 RCV000990488 RCV001004705 RCV001004700 RCV001004660 RCV003769414 RCV001047599 RCV001063549 RCV001067845 RCV001062625 RCV001058028 RCV001041809 RCV001048608 RCV001039543 RCV001062137 RCV001042645 RCV001063201 RCV001035473 RCV001089714 RCV001089707 RCV001301919 RCV001089715 RCV001089708 RCV001089709 RCV001089704 RCV001089710 RCV001089716 RCV001089703 RCV001089702 RCV001089712 RCV001089901 RCV003313986 RCV001172319 RCV001172332 RCV001172318 RCV004800711 RCV001194616 RCV001218207 RCV001218250 RCV001230939 RCV001227068 RCV001246449 RCV001244296 RCV001237801 RCV001253697 RCV001253593 RCV001253069 RCV001253212 RCV001253408 RCV001260488 RCV001262858 RCV001303322	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 4	Pathogenic	rs1602286005	RCV001004675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental delay	Likely pathogenic	rs2518873941, rs1057518759	RCV003154290 RCV000415357	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2147148081, rs267608501, rs786204967, rs1057518759, rs1057519542, rs1569219844	RCV001845060 RCV000416982 RCV000416945 RCV000415357 RCV000417015 RCV000678785	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal epilepsy	Pathogenic	rs1057519541	RCV000416943	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs267608493	RCV001260657	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nicolaides-Baraitser syndrome	Likely pathogenic	rs1569231336	RCV000760274	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2518864113, rs2518834440, rs886043453, rs1602292181, rs1602230515, rs1922607139	RCV005931866 RCV005930329 RCV005895746 RCV005934928 RCV005902063 RCV005909224	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rett syndrome	Pathogenic	rs267608474, rs587783399, rs62641235	RCV005053926 RCV005053995 RCV000169913	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs61753251, rs62641235, rs1926473501	RCV005624325 RCV005624283 RCV001281084	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2147148092, rs2147147996, rs267608490, rs267608479, rs587783159, rs751789670, rs17857094, rs1602292181, rs1555952015, rs267608618, rs1569215629, rs1602232972, rs267608418	RCV005925575 RCV005925356 RCV005886951 RCV005886957 RCV005886962 RCV005930058 RCV005889655 RCV005934929 RCV005899847 RCV005901413 RCV005901713 RCV005912175 RCV005912483	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
West syndrome	Pathogenic; Likely pathogenic	rs267606715, rs267608421, rs267608474, rs267608618, rs1555952078, rs1555954752	RCV003488377 RCV000659286 RCV003484989 RCV000659287 RCV000659289 RCV000659291	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal cerebral morphology	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUXISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLIN-DEPENDENT KINASE-LIKE 5 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, PARTIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile spasms	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOSCHISIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOSCHISIS 1, X-LINKED, JUVENILE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETT SYNDROME, ATYPICAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	15499549, 24839169		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angelman Syndrome	Angelman syndrome	Pubtator	15499549, 19241098	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angelman Syndrome	Angelman Syndrome	CTD_human_DG	19241098		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angelman Syndrome	Angelman Syndrome	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aphasia	Aphasia	Pubtator	31205075	Associate	★☆☆☆☆ Found in Text Mining only
Apnea	Apnea	Pubtator	23151060	Associate	★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	BEFREE	31492455		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	31332003		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	31332003		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29016850		★☆☆☆☆ Found in Text Mining only
Atypical Rett syndrome	Rett Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autism Spectrum Disorder	Autism	Pubtator	32722525, 37490689	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21624971, 28261056, 31332003		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	16611748, 19241098, 22521361, 25315662, 27824329	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	20397747, 20493745, 22922712, 29016850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	31122804		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18266744, 19780792, 21309761, 21750574, 21770923, 22872100, 23756444, 24564546, 25266480, 27187038, 29190809, 31313283, 32111237, 37490689, 37701975	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35667653	Associate	★☆☆☆☆ Found in Text Mining only
CDKL5-related epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	31122804		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	22264704		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	22264704		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22872100	Associate	★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniodiaphyseal dysplasia	Craniodiaphyseal Dysplasia	BEFREE	30326240, 30561084, 30793413, 30928302, 30952813, 31108505, 31114483, 31313283, 31469994, 31472213, 31794725		★☆☆☆☆ Found in Text Mining only
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)	Craniodiaphyseal dysplasia	BEFREE	30326240, 30561084, 30793413, 30928302, 30952813, 31108505, 31114483, 31313283, 31469994, 31472213, 31794725		★☆☆☆☆ Found in Text Mining only
Cryptogenic Infantile Spasms	Cryptogenic West syndrome	BEFREE	16806828		★☆☆☆☆ Found in Text Mining only
Cyclin-dependent kinase-like 5 deficiency	Cyclin-Dependent Kinase-Like 5 Deficiency	CLINVAR_DG	15917271, 16330482, 16611748, 17993579, 19161156, 19780792, 19793311, 20602487, 21482751, 21770923, 22670135, 22678952, 22779007, 22872100, 22922712, 23236174, 23934111, 24564546, 25266480, 25819767, 27187038, 27734276, 27848944, 28837158, 29444904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclin-dependent kinase-like 5 deficiency	Cyclin-Dependent Kinase-Like 5 Deficiency	BEFREE	29702698, 30071384, 30326240, 30561084, 30928302, 30952813, 31114483, 31201320, 31313283, 31472213, 31794725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, X-LINKED 4 (disorder)	Deafness	BEFREE	9721213		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	15499549, 21293276, 21770923, 22872100, 23583054, 26993267, 27171548, 27187038, 27343026, 31056551, 35422141, 37490689, 39201578	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	16330482		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	33044867	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22541287		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15492925, 18266744, 19241098, 19471977, 19793311, 21775177, 22670135, 22678952, 22779007, 22872100, 23151060, 23583054, 24564546, 24916645, 25266480, 26708753, 27528505		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	23151060		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	ORPHANET_DG	22196487		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	17256798, 17993579, 18266744, 18790821, 18809835, 19428276, 19578037, 19780792, 19793311, 19806373, 21124335, 22264704, 22678952, 22779007, 22832775, 22867051, 22998673, 24564546, 25819767, 29510241, 30898514, 30928302, 31114483, 31225800		★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	15492925, 16015284, 16326141, 16611748, 16813600, 17993579, 18063413, 18266744, 18790821, 19241098, 19253388, 19362436, 19428276, 19471977, 19734009, 20493745, 20728410, 21160487, 21309761, 22264704, 22832775, 22867051, 22998673, 23583054, 23647072, 24564546, 25085838, 25819767, 26387070, 28674172, 28837158, 28872899, 29474534, 30071384, 30258398, 30378547, 30898514, 31114483, 31225800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	LHGDN	15492925, 16611748, 17993579, 18790821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	16611748, 18266744, 19241098, 19780792, 23583054, 28074849, 28837158, 29190809, 29261713, 31056551, 31925439, 32111237, 34605059, 37490689, 39541770, 40126049, 40180227	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Absence	Absence epilepsy	Pubtator	23283985	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	30624022		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	22264704		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	17256798, 19161156, 19455595, 19780792, 20397747, 20493745, 21107515, 21309761, 21482751, 21770923, 21802232, 22779007, 22832775, 22921766, 23756444, 24564546, 24715584, 25085838, 25266480, 26387070, 27187038, 27599155, 28605011, 28872899, 29510241, 30071384, 30246934, 30624022, 31313283		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	36084525	Stimulate	★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	37482918, 37867425	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	UNIPROT_DG	12736870, 15492925, 15499549, 15689447, 15917271, 16015284, 16611748, 16935860, 17993579, 18790821, 18809835, 19241098, 19253388, 23662938, 23708187, 24564546, 26993267, 27864847		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	CLINGEN_DG	15492925, 15499549, 19793311, 21154482, 29016850, 29474534		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	15689447, 19734009, 21293276, 27466189, 27528505, 27940108, 28103894, 28230307, 28369421, 28641386, 29474534, 29603837, 29977282, 30266825, 30288694		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	19241098		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	ORPHANET_DG	22872100		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal Clonic Seizures	Focal Clonic Seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal Tonic Seizures	Focal Tonic Seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized clonic seizures	Clonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	22264704		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26956052	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31858726	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	17993579, 21293276, 21770923, 22779007, 22872100, 22921766, 23583054, 27187038, 27315173, 27779742, 29510241, 30624022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24564546	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	25315662	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22998673, 29618004, 30378547		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	19734009		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	15492925, 15499549, 15689447, 16326141, 16330482, 16611748, 16806828, 16935860, 17049193, 17993579, 18412109, 18790821, 19740913, 19780792, 19793311, 21107515, 22678952, 22867051, 23756444, 24236044, 24564546, 31122804		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12736870, 15492925, 15499549, 15689447, 16330482, 16935860, 22921766, 22922712, 23242510, 23756444, 28740074, 29474534, 29752575, 30952813		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	12736870, 15499549, 15689447, 16611748, 27187038, 31450582	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	LHGDN	18809835		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	22264704		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33044867	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	25315662	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	25315662	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	25315662	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	25315662		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	22521361		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	12736870, 15492925, 15499549, 15689447, 16330482, 16935860, 23242510		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked	Mental retardation	BEFREE	15492925, 20397747		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	15492925		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	19806373		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	18412109		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33905871	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myoclonic Encephalopathy	Myoclonic Encephalopathy	BEFREE	16326141		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	16326141, 17049193, 21770923		★☆☆☆☆ Found in Text Mining only
Nance-Horan syndrome	Nance-Horan Syndrome	BEFREE	12173028, 17256798		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25266480	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	16330482, 24236044, 27940108, 29618004		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22921766		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28837158, 31450582	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	15492925, 15499549, 16330482, 19253388, 19740913, 19793311, 22521361, 22779007, 22867051, 22922712, 25389532, 26236424, 27171548, 27343026, 27840050, 27940108, 28674172, 28688852, 28740074, 28837158, 29702698, 30447183, 30569538, 31469994, 31717404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	BEFREE	9721213		★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome type1	Orofaciodigital Syndrome	BEFREE	9721213		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29924424	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29241837		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	19396824		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	BEFREE	18809835		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	24564546	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	26872967		★☆☆☆☆ Found in Text Mining only
Retinoschisis	Retinoschisis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOSCHISIS 1, X-LINKED, JUVENILE	Retinoschisis, X-Linked	CLINVAR_DG	10220153, 10234514, 10533068, 10589241, 10636421, 10636429, 10636740, 10922205, 10947001, 12417531, 12782284, 12920343, 12928282, 15531314, 15932525, 15937075, 16167295, 16272055, 16361673, 17296904, 17304551, 17515881, 17525175, 17615541, 17631851, 17987333, 18369700, 18541843, 18690710, 18834580, 19093009, 19324861, 19390641, 20061330, 20801516, 20809529, 21701876, 22039241, 22332228, 23453514, 23514609, 23847049, 25525159, 26356828, 27246168, 28272453, 28450823, 29081674, 9326935, 9618178, 9760195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rett Syndrome	Rett Syndrome	BEFREE	15492925, 15499549, 15689447, 15917271, 16015284, 16086395, 16326141, 16611748, 16806828, 16813600, 16935860, 17049193, 17089071, 17256798, 17993579, 18790821, 18977197, 19161156, 19241098, 19253388, 19428276, 19455595, 19471977, 19562714, 19564653, 19740913, 19752159, 19780792, 19793311, 20397747, 21107515, 21124335, 21160487, 21276437, 21280142, 21293276, 21750574, 21802232, 22383159, 22430159, 22541287, 22678952, 22867051, 22872100, 22921766, 22922712, 22968132, 22982301, 22998673, 23151060, 23242510, 24412290, 24564546, 24839169, 25389532, 25424712, 25931020, 26006105, 26236424, 26443267, 26927095, 27001178, 27062609, 27080038, 27171548, 27265524, 27840050, 27900411, 28230307, 28544139, 28605011, 29420175, 29752575, 30929312, 31105003, 31717404		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rett Syndrome	Rett Syndrome	LHGDN	15492925, 15635068, 16015284, 16611748, 17089071, 17993579, 18063413		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rett Syndrome	Rett syndrome	Pubtator	15499549, 15689447, 16611748, 19241098, 19780792, 21293276, 21750574, 22415763, 22867051, 22872100, 22968132, 23151060, 23756444, 24564546, 24916645, 25315662, 25389532, 26006105, 26236424, 26927095, 27080038, 27171548, 27187038, 28947817, 29322350, 30929312, 31206249, 31512412, 33106377, 35263890	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rett Syndrome	Rett Syndrome	CTD_human_DG	19241098		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rett Syndrome	Rett Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rett Syndrome, Atypical	Rett Syndrome	BEFREE	17993579, 19793311, 22867051, 22998673, 23242510, 23756444, 25819767, 26006105, 27187038, 27265524, 29752575, 31122804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rett Syndrome, Atypical	Rett Syndrome	ORPHANET_DG	22196487		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rett Syndrome, Atypical	Rett Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyolysis	Rhabdomyolysis	Pubtator	33044867	Associate	★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	BEFREE	30898514		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	15689447, 16611748, 18266744, 21293276, 21309761, 21750574, 21770923, 22867051, 22872100, 22968132, 23151060, 24564546, 26927095, 27187038, 29444904, 31450582, 31618474, 32111237	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	9721213		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	12736870, 16015284, 16611748, 20493745, 27466189, 30246934, 30624022		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	22264704		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	23151060	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	28230307		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	23151060		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	28230307		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	12736870, 15499549, 15689447, 16611748, 18266744, 19780792, 22867051, 23756444, 24564546, 33951346, 36279597, 37583270	Associate	★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	25315662		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotypical body rocking	Stereotypy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stereotypical hand wringing	Stereotypy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21097718	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	21309761		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	22264704		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	35422141	Associate	★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	22264704		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	15492925, 15499549, 15689447, 16015284, 16326141, 16330482, 16611748, 16806828, 16935860, 17049193, 17993579, 18412109, 18790821, 19740913, 19780792, 19793311, 20397747, 21107515, 22473288, 22678952, 22867051, 23756444, 24236044, 24564546, 28780406, 30236769, 31122804, 31791873		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
West Syndrome	West Syndrome	LHGDN	16611748, 18790821		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
West Syndrome	West Syndrome	ORPHANET_DG	18564362, 22196487		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
West Syndrome	West Syndrome	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
West Syndrome	West Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked infantile spasms	Spasms X-Linked	BEFREE	12177367, 12736870, 15021241, 16935860, 21124335, 21967765, 22921766, 25819767, 27599155, 31225800		★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only