FOXG1 (forkhead box G1)

Gene

• Entrez ID: 2290
• Gene name: Forkhead box G1
• Gene symbol: FOXG1
• Synonyms (NCBI Gene): BF1, BF2, FHKL3, FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C, HBF-1, HBF-2, HBF-3, HBF-G2, HBF2, HFK1, HFK2, HFK3, KHL2, QIN
• Chromosome: 14
• Chromosome location: 14q12
• Summary: This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated wit

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs112803404	C>G,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Coding sequence variant, synonymous variant
rs121913678	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs138747073	C>A,G,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant
rs141088742	C>G,T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144434028	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs148410675	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs267606826	C>A,G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs267606827	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606828	T>C	Pathogenic	Coding sequence variant, missense variant
rs398124201	AGCAGC>-,AGC,AGCAGCAGC	Conflicting-interpretations-of-pathogenicity, likely-benign	Inframe deletion, coding sequence variant, inframe insertion
rs398124202	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic, likely-benign	Coding sequence variant, missense variant, stop gained
rs398124204	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs538358023	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs570981209	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs587783629	C>-,CC,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs587783631	ACCCGCCGCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783635	GGGGCGCCCCGGCCGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783636	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783637	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs587783638	C>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs587783640	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587783641	A>G	Pathogenic	Coding sequence variant, missense variant
rs587783642	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs587783643	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503934	TTACTACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503935	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs747138265	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs760663911	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs761703699	CGCCGC>-,CGC,CGCCGCCGC	Conflicting-interpretations-of-pathogenicity	Inframe deletion, inframe insertion, coding sequence variant
rs762634382	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs764343290	C>G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs767961672	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs786200975	GCCGCCGCC>-,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC	Conflicting-interpretations-of-pathogenicity, likely-benign	Inframe deletion, inframe insertion, coding sequence variant
rs786204998	TC>CT	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs786204999	C>G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs786205000	C>T	Pathogenic	Stop gained, coding sequence variant
rs786205001	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs786205003	GG>C,T	Pathogenic	Frameshift variant, coding sequence variant
rs786205004	->C	Pathogenic	Frameshift variant, coding sequence variant
rs786205005	G>A	Pathogenic	Coding sequence variant, missense variant
rs786205006	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs786205007	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs786205008	T>C	Pathogenic	Coding sequence variant, missense variant
rs786205009	C>T	Pathogenic	Coding sequence variant, missense variant
rs786205010	ACGTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205011	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205486	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052453	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs796052458	C>T	Pathogenic	Stop gained, coding sequence variant
rs796052461	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052462	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs796052463	C>T	Pathogenic	Stop gained, coding sequence variant
rs796052464	C>G	Pathogenic	Stop gained, coding sequence variant
rs796052465	C>T	Pathogenic	Stop gained, coding sequence variant
rs796052468	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052469	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796052474	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs796052476	->G	Pathogenic	Frameshift variant, coding sequence variant
rs796052477	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052481	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796052484	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052485	GC>ACCG	Pathogenic	Frameshift variant, coding sequence variant
rs796052486	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312700	G>A	Pathogenic	Coding sequence variant, missense variant
rs869312961	C>G	Pathogenic	Coding sequence variant, missense variant
rs879255530	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886041744	T>A	Pathogenic	Coding sequence variant, missense variant
rs1057516138	G>C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1057517859	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057518165	C>G,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1057518196	CG>GTC	Pathogenic	Frameshift variant, coding sequence variant
rs1057520663	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057520780	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057521783	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793481	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796823	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797030	GC>TT	Pathogenic	Coding sequence variant, stop gained
rs1064797186	A>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1085307753	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307966	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691540	C>T	Pathogenic	Coding sequence variant, stop gained
rs1452295073	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs1555321206	->GCCGCCCGCC	Pathogenic	Coding sequence variant, frameshift variant
rs1555321237	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555321264	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555321279	G>C,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1555321294	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555321301	C>G	Likely-pathogenic	Stop gained, coding sequence variant
rs1555321302	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555321311	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555321337	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555321339	C>G	Pathogenic	Coding sequence variant, missense variant
rs1555321345	CCACTACGAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555321351	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555321353	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555321361	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555321366	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555321367	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555321369	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555321380	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555321382	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555321400	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555321402	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555321405	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1566445169	AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566445489	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1594382746	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594382930	CCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594383056	CGCCGCCG>AGCCGCCCCC	Pathogenic	Frameshift variant, coding sequence variant
rs1594383151	->GG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594383538	->AACG	Pathogenic	Frameshift variant, coding sequence variant
rs1594383576	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594383704	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1594383773	->ACTA	Pathogenic	Stop gained, coding sequence variant
rs1594383798	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594384015	->AACGGCAC	Pathogenic	Frameshift variant, coding sequence variant
rs1594384249	A>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016200	hsa-miR-590-3p	Sequencing	20371350
MIRT029405	hsa-miR-26b-5p	Microarray	19088304
MIRT658115	hsa-miR-586	HITS-CLIP	23824327
MIRT658114	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT069734	hsa-miR-30d-5p	PAR-CLIP	20371350
MIRT069733	hsa-miR-30c-5p	PAR-CLIP	20371350
MIRT069731	hsa-miR-30a-5p	PAR-CLIP	20371350
MIRT069735	hsa-miR-30b-5p	PAR-CLIP	20371350
MIRT069738	hsa-miR-30e-5p	PAR-CLIP	20371350
MIRT069737	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT069744	hsa-miR-4504	PAR-CLIP	20371350
MIRT405781	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT069736	hsa-miR-124-5p	PAR-CLIP	20371350
MIRT557832	hsa-miR-1206	PAR-CLIP	20371350
MIRT557831	hsa-miR-6853-3p	PAR-CLIP	20371350
MIRT069739	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT069740	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT567507	hsa-miR-4743-3p	PAR-CLIP	20371350
MIRT567506	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT069738	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT069735	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT069731	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT069733	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT069734	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT069737	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT069744	hsa-miR-4504	PAR-CLIP	21572407
MIRT069736	hsa-miR-124-5p	PAR-CLIP	21572407
MIRT557832	hsa-miR-1206	PAR-CLIP	21572407
MIRT557831	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT069739	hsa-miR-376a-3p	PAR-CLIP	21572407
MIRT069740	hsa-miR-376b-3p	PAR-CLIP	21572407
MIRT341338	hsa-miR-422a	Luciferase reporter assay, Northern blot	25251503
MIRT278144	hsa-miR-200b-3p	Luciferase reporter assay	27044840
MIRT658115	hsa-miR-586	HITS-CLIP	23824327
MIRT658114	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT069734	hsa-miR-30d-5p	PAR-CLIP	20371350
MIRT069733	hsa-miR-30c-5p	PAR-CLIP	20371350
MIRT069731	hsa-miR-30a-5p	PAR-CLIP	20371350
MIRT069735	hsa-miR-30b-5p	PAR-CLIP	20371350
MIRT069738	hsa-miR-30e-5p	PAR-CLIP	20371350
MIRT069737	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT069744	hsa-miR-4504	PAR-CLIP	20371350
MIRT405781	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT069736	hsa-miR-124-5p	PAR-CLIP	20371350
MIRT557832	hsa-miR-1206	PAR-CLIP	20371350
MIRT557831	hsa-miR-6853-3p	PAR-CLIP	20371350
MIRT069739	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT069740	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT567507	hsa-miR-4743-3p	PAR-CLIP	20371350
MIRT567506	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT069738	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT069735	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT069731	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT069733	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT069734	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT069737	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT069744	hsa-miR-4504	PAR-CLIP	21572407
MIRT069736	hsa-miR-124-5p	PAR-CLIP	21572407
MIRT557832	hsa-miR-1206	PAR-CLIP	21572407
MIRT557831	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT069739	hsa-miR-376a-3p	PAR-CLIP	21572407
MIRT069740	hsa-miR-376b-3p	PAR-CLIP	21572407
MIRT1001645	hsa-miR-3124-3p	CLIP-seq
MIRT1001646	hsa-miR-494	CLIP-seq
MIRT1996812	hsa-miR-203	CLIP-seq
MIRT1996813	hsa-miR-330-3p	CLIP-seq
MIRT1996814	hsa-miR-369-3p	CLIP-seq
MIRT1996815	hsa-miR-374a	CLIP-seq
MIRT1996816	hsa-miR-374b	CLIP-seq
MIRT1996817	hsa-miR-4274	CLIP-seq
MIRT1996818	hsa-miR-4470	CLIP-seq
MIRT1996819	hsa-miR-4643	CLIP-seq
MIRT1996820	hsa-miR-4704-3p	CLIP-seq
MIRT1996821	hsa-miR-602	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	7957066, 7959731
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	12657635, 24356439
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	TAS	7599184, 7959731
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016199	Process	Axon midline choice point recognition	IEA
GO:0021852	Process	Pyramidal neuron migration to cerebral cortex	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12657635
GO:0048664	Process	Neuron fate determination	IEA
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000177	Process	Regulation of neural precursor cell proliferation	IEA

Other IDs

• MIM: 164874
• HGNC: 3811
• e!Ensembl: ENSG00000176165

Protein

• UniProt ID: P55316
• Protein name: Forkhead box protein G1 (Brain factor 1) (BF-1) (BF1) (Brain factor 2) (BF-2) (BF2) (hBF-2) (Forkhead box protein G1A) (Forkhead box protein G1B) (Forkhead box protein G1C) (Forkhead-related protein FKHL1) (HFK1) (Forkhead-related protein FKHL2) (HFK2) (F
• Protein function: Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon.
• PDB: 7CBY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00250	Forkhead	180 → 266	Forkhead domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expression is restricted to the neurons of the developing telencephalon. {ECO:0000269|PubMed:7959731}.
• Sequence:

  MLDMGDRKEVKMIPKSSFSINSLVPEAVQNDNHHASHGHHNSHHPQHHHHHHHHHHHPPP
  PAPQPPPPPQQQQPPPPPPPAPQPPQTRGAPAADDDKGPQQLLLPPPPPPPPAAALDGAK
  ADGLGGKGEPGGGPGELAPVGPDEKEKGAGAGGEEKKGAGEGGKDGEGGKEGEKKNGKYE
  KPPFSYNALIMMAIRQSPEKRLTLNGIYEFIMKNFPYYRENKQGWQNSIRHNLSLNKCFV
  KVPRHYDDPGKGNYWMLDPSSDDVFIGGTTGKLRRRSTTSRAKLAFKRGARLTSTGLTFM
  DRAGSLYWPMSPFLSLHHPRASSTLSYNGTTSAYPSHPMPYSSVLTQNSLGNNHSFSTAN
  GLSVDRLVNGEIPYATHHLTAAALAASVPCGLSVPCSGTYSLNPCSVNLLAGQTSYFFPH
  VPHPSMTSQSSTSMSARAASSSTSPQAPSTLPCESLRPSLPSFTTGLSGGLSDYFTHQNQ
  GSSSNPLIH

• Sequence length: 489

Pathways

KEGG:

FoxO signaling pathway

Reactome:

FOXO-mediated transcription of cell cycle genes

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
Abnormal cerebral morphology	Pathogenic	rs398124204	RCV002274912	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal optic nerve morphology	Pathogenic	rs267606826	RCV001003977	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Pathogenic	rs786205001	RCV001814085	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplasia/Hypoplasia of the corpus callosum	Likely pathogenic	rs1555321402	RCV000626877	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Axial hypotonia	Pathogenic	rs267606826	RCV001003977	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FOXG1 disorder	Pathogenic; Likely pathogenic	rs398124204, rs1881809272, rs1057518165, rs2138660947, rs2138661305, rs2138661778, rs2138662354, rs2138661139, rs2138660628, rs2138661638, rs2138661946, rs2138661266, rs2138660395, rs2138660748, rs797045583, rs2138661060, rs2138661070, rs767961672, rs796052461, rs1555321308, rs2138661161, rs2138661171, rs2138661203, rs2138661224, rs2138661448, rs587783640, rs2138661742, rs2138661811, rs2138662009, rs2138661058, rs2138661213, rs2138660420, rs2138661267, rs2138661461, rs2138661370, rs2138660687, rs2138661170, rs2138661094, rs869312700, rs2138660457, rs2138661547, rs2138661375, rs2138661191, rs2138660968, rs2138661880, rs587783629, rs587783631, rs587783635, rs587783636, rs587783638, rs587783641, rs587783642, rs121913678, rs587783643, rs2138661244, rs2502226684, rs2502225892, rs2502224718, rs2502226243, rs727503935, rs2502226006, rs2502227155, rs786205000, rs786205001, rs786205003, rs786205004, rs786205005, rs786205006, rs786204998, rs786205007, rs786205008, rs786205009, rs786205010, rs786205011, rs138747073, rs786204999, rs2502226349, rs796052474, rs796052462, rs796052463, rs796052464, rs1555321334, rs796052469, rs1881808715, rs2502225346, rs2502225614, rs2502225399, rs2502225068, rs2502225854, rs2502224339, rs886041744, rs2502226093, rs2502226632, rs2502226381, rs2502226013, rs2502224874, rs879255530, rs2502225623, rs2502224768, rs2502226571, rs1131691540, rs2502226706, rs2502226577, rs2502226255, rs2502227323, rs267606826, rs267606828, rs267606827, rs2502227068, rs2502227748, rs2502225186, rs2502228019, rs2502228139, rs2502227732, rs2502227247, rs2502224438, rs2502227104, rs1555321325, rs2502223818, rs2502226140, rs2502228152, rs1057516138, rs1057520663, rs1057520780, rs1064797186, rs1555321302, rs1555321337, rs1555321206, rs1555321301, rs1555321311, rs1555321294, rs1452295073, rs1555321237, rs1555321351, rs1555321382, rs1555321345, rs1555321405, rs786205486, rs1555321380, rs1555321353, rs1566445169, rs1566445489, rs764343290, rs1566445533, rs1594384015, rs1594382746, rs1594383704, rs1594383798, rs1594384249, rs1881788747, rs1240929961, rs1881816066, rs1881828200, rs1881779084, rs767873754, rs1392520466, rs1881793162, rs1881819022, rs1881817310, rs1881804364, rs1881802605, rs2502224855, rs1594383648, rs1881815891, rs1881803464, rs2502227044	RCV000170075 RCV001334376 RCV001379557 RCV001382621 RCV001386551 RCV001382104 RCV001387437 RCV001775218 RCV001775274 RCV001775374 RCV001783308 RCV001781127 RCV001785281 RCV001785283 RCV001785284 RCV001785286 RCV001785287 RCV001785288 RCV001785289 RCV001785291 RCV001785292 RCV001785293 RCV001785294 RCV001785295 RCV001785296 RCV001785297 RCV001785299 RCV001785300 RCV001785301 RCV001785376 RCV001806440 RCV001823676 RCV001843410 RCV006276098 RCV001928431 RCV001953373 RCV002037016 RCV001994787 RCV002002475 RCV001953456 RCV001889701 RCV002051440 RCV001928048 RCV002249993 RCV002251244 RCV000145981 RCV000145983 RCV000145987 RCV000145988 RCV000145992 RCV000145994 RCV000145995 RCV000145996 RCV000145997 RCV000145998 RCV002271869 RCV002281625 RCV002283610 RCV002283676 RCV002286508 RCV000500932 RCV002468862 RCV002470393 RCV001781530 RCV000170073 RCV000170074 RCV000170076 RCV000170077 RCV000170078 RCV006276079 RCV000194042 RCV000170080 RCV000170081 RCV000170082 RCV000170084 RCV000170085 RCV006276078 RCV000170070 RCV002510736 RCV003514595 RCV003987432 RCV002514003 RCV006276082 RCV001781545 RCV001781546 RCV001781547 RCV001857610 RCV000803740 RCV002791502 RCV002820472 RCV002829846 RCV002871022 RCV002870734 RCV002866539 RCV003030002 RCV003027664 RCV000209877 RCV002810039 RCV002790006 RCV003127319 RCV003138589 RCV003514609 RCV003158014 RCV003158017 RCV000239423 RCV001859479 RCV003333607 RCV003334372 RCV003335827 RCV003387604 RCV003388729 RCV003389389 RCV003494088 RCV003515492 RCV000014881 RCV000014883 RCV000014884 RCV000014885 RCV000014886 RCV003516363 RCV003516389 RCV003514898 RCV003514933 RCV003515129 RCV003515873 RCV003630306 RCV003630259 RCV003630397 RCV003630520 RCV003630591 RCV003631055 RCV003628778 RCV003883314 RCV003885406 RCV006276102 RCV004594956 RCV004595329 RCV000408627 RCV000408825 RCV000209851 RCV001069733 RCV001254160 RCV002524860 RCV000503039 RCV005252933 RCV000502824 RCV000504441 RCV000648316 RCV001706659 RCV001297654 RCV000550163 RCV000525648 RCV000541926 RCV000576162 RCV000585809 RCV001775136 RCV001783103 RCV001783114 RCV001783113 RCV000648315 RCV000648318 RCV003448331 RCV000659679 RCV000702418 RCV000706347 RCV000694652 RCV000760276 RCV000807075 RCV000819252 RCV000989197 RCV000989199 RCV000995768 RCV000995769 RCV001035211 RCV001056667 RCV001040750 RCV001038102 RCV001060253 RCV001095652 RCV001171512 RCV002281584 RCV001194653 RCV001225207 RCV001222273 RCV001249270 RCV001249640 RCV001253307 RCV001255735 RCV001255845 RCV001258332 RCV001263434 RCV001338819 RCV001270402	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOXG1-related disorder	Pathogenic; Likely pathogenic	rs398124204, rs786205001, rs2502224452, rs2502227229, rs1057520780	RCV003915077 RCV004751321 RCV003408304 RCV003402280 RCV003392239	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Pathogenic	rs267606826	RCV001003977	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs587783640	RCV001260760	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Likely pathogenic	rs2138661361	RCV001391269	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1566445489, rs1881828200	RCV001374989 RCV001779113	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Likely pathogenic	rs1555321402	RCV000626877	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rett syndrome	Pathogenic; Likely pathogenic	rs2138661744, rs2138661811, rs2138661043, rs2138661390, rs587783636, rs727503935, rs786205001, rs1555321382, rs1594383704, rs587783638, rs1881802605	RCV005053985 RCV005053986 RCV001823424 RCV005053993 RCV005053928 RCV005053929 RCV004798950 RCV004798793 RCV005053951 RCV005053959 RCV005053973 RCV005053979	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe intellectual deficiency	Likely pathogenic	rs796052461	RCV000414887	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Likely pathogenic	rs1555321402	RCV000626877	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stereotypic movement disorder	Pathogenic	rs267606826	RCV001003977	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strabismus	Pathogenic	rs267606826	RCV001003977	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
14Q12 MICRODELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETT SYNDROME, CONGENITAL VARIANT	—	CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO	★★☆☆☆ 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
14q11.2 microduplication syndrome	14q11.2 microduplication syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
14q11.2 microduplication syndrome	14q11.2 microduplication syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
14q12 microdeletion syndrome	14q12 microdeletion syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abnormal involuntary movement	Abnormal Involuntary Movement	BEFREE	27029630		★☆☆☆☆ Found in Text Mining only
Acrocallosal Syndrome	Acrocallosal Syndrome	CTD_human_DG	18627055		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	17522785, 23592496		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	18627055, 30392794		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	26364767, 28851325	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	24836831	Associate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	24839169		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29394901		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29394901		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	18670637	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26186191	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26186191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24836831	Associate	★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19543511		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	23632790	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	22739344, 26795593, 29852413, 34964776	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	29316219	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23660594		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23660594	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31771611	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19543511		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36585925	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19755996		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27737314	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	27737314		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27044840		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	27044840		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	17522785, 23592496		★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	24836831, 26364767, 36054588	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	27029630	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	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	18627055		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35202405	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	18627055		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital phimosis	Congenital Phimosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	30431579	Associate	★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	22739344, 24836831, 25266269, 26364767, 34964776	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	20736978, 28851325, 31199603, 31238879, 33096386, 34964776, 36833172, 37216650	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	21441262, 23956198		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35954211	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35954211	Stimulate	★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	BEFREE	22739344		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	22739344		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	18571142, 19578037, 20356955, 21441262, 22998673, 24766421, 24836831, 25565401, 26344814, 26364767, 27001178, 27029630, 2760358, 27640358, 28544139		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	24139857		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	27029630	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	19806373, 22739344, 22998673, 25565401, 26344814, 29396177, 31454984		★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	26523971		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20728410, 20736978, 22998673, 24731847, 24836831, 26344814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	20736978, 24836831, 25266269, 26364767, 26795593	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	18627055		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	28036350		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
FOXG1 syndrome	FOXG1 Syndrome	CLINVAR_DG	18571142, 19564653, 19806373, 21280142, 21441262, 22091895, 22739344, 24836831, 24901346, 25356899, 26344814, 26938784, 27029630, 28851325		★☆☆☆☆ Found in Text Mining only
FOXG1 syndrome	FOXG1 Syndrome	GENOMICS_ENGLAND_DG	18571142, 21441262, 29086067		★☆☆☆☆ Found in Text Mining only
FOXG1 syndrome	FOXG1 Syndrome	UNIPROT_DG	19578037, 21280142, 26993267		★☆☆☆☆ Found in Text Mining only
FOXG1 syndrome	FOXG1 Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
FOXG1 syndrome	FOXG1 Syndrome	BEFREE	22739344, 22968132, 23956198, 28661489, 29289958, 29321672, 31019990, 31237323, 31253171		★☆☆☆☆ Found in Text Mining only
FOXG1 syndrome	FOXG1 Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
FOXG1 syndrome due to 14q12 microdeletion	FOXG1 Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	18627055		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23079654, 28465359, 29316219, 30172378		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28465359, 29316219, 30172378, 35148845, 37216650, 37243590	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23079654, 25977169, 28465359, 29316219, 30172378		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29053887, 29581755		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20736978, 23838309, 23895774, 24731847, 29905153		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth Disorders	Growth disorder	Pubtator	25266269, 30431579	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20736978	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	17217994		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	22636604		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	27029630, 36054588	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	19806373, 23895774		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic hippocampus	Hypoplastic hippocampus	BEFREE	28781028		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22998673		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	28036350		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	21910242, 24836831		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	18627055		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	20736978, 22739344, 24836831, 25266269, 26364767, 28851325, 30431579, 35148845	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	28851325		★★★★☆ 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	18627055		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	24836831	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	24836831	Associate	★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	25266269		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25251503, 31771611		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	2456701, 3501243	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	31680852		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	BEFREE	26523971		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	26620267		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23660594		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19755996		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19543511		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19543511, 29581755, 31771611		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27044840		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	17522785, 23592496		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	17522785		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	23852775	Associate	★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	18627055		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	19772934		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	28851325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	16133170, 18627055, 19806373, 22739344, 24388699, 24836831, 25266269, 25966633, 26364767, 29080444, 29758293		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	CTD_human_DG	18627055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	22739344, 25266269, 35148845, 35714598	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microlissencephaly	Microlissencephaly	CTD_human_DG	18627055		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36833172	Associate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	20191052	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	20734096, 25565401, 26344814, 27029630, 29396177		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	27029630	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	BEFREE	28036350		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	18571142, 19578037, 20356955, 21441262, 22998673, 24766421, 24836831, 25565401, 26344814, 26364767, 27001178, 27029630, 2760358, 27640358, 28544139		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	29920362		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34278485	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	34278485	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17217994, 17522785, 18670637, 26542077, 29053887		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	23203475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25389532, 30336149, 31105003, 31199603, 31717404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatoses	Neurofibromatosis	BEFREE	26542077		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	26542077		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29509249		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26868259	Associate	★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	BEFREE	18792984		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	34006186	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19755996		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19755996	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Partial or complete agenesis of corpus callosum	Partial Or Complete Agenesis Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
PITT-HOPKINS SYNDROME	Pitt-Hopkins Syndrome	BEFREE	24839169		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	18627055		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	18571142, 19303466, 19564653, 19578037, 19623215, 19772934, 19806373, 20734096, 21276437, 21280142, 21441262, 22091895, 22129046, 22383159, 22739344, 22968132, 22998673, 23895774, 24139857, 24412290, 24839169, 25266269, 25389532, 25424712, 25565401, 25931020, 26443267, 27001178, 27062609, 27171548, 27265524, 28544139, 28639189, 28781028, 28851325, 29321672, 29385539, 29920362, 30929312, 31105003, 31206249, 31450553, 31717404		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rett Syndrome	Rett Syndrome	LHGDN	18571142		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rett Syndrome	Rett syndrome	Pubtator	18571142, 20736978, 21750574, 22415763, 22739344, 22968132, 23632790, 25266269, 25389532, 25914188, 28851325, 28947817, 29321672, 29322350, 30929312, 31206249, 32541681, 32757993, 35263890	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rett Syndrome, Atypical	Rett Syndrome	ORPHANET_DG	18571142, 19578037, 19623215		★☆☆☆☆ Found in Text Mining only
Rett Syndrome, Atypical	Rett Syndrome	BEFREE	19623215, 22998673, 28781028, 30539330		★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	24839169		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27760116		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	27760116	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary microcephaly	Microcephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	24836831, 35148845	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	18627055		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	16133170, 18627055, 24836831, 30639390		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Single Seizure	Seizure	CTD_human_DG	18627055		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	24836831	Associate	★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	20736978, 23838309		★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	BEFREE	26542077		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	30431579	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31307196		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tonic - clonic seizures	Seizure	CTD_human_DG	18627055		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19543511	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	32541681	Associate	★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	18627055		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	21910242, 24836831		★☆☆☆☆ Found in Text Mining only