Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	4212
Gene name	Meis homeobox 2
Gene symbol	MEIS2
Synonyms (NCBI Gene)	CPCMRHsT18361MRG1
Chromosome	15
Chromosome location	15q14
Summary	This gene encodes a homeobox protein belonging to the TALE (`three amino acid loop extension`) family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essen

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs749346955	G>A,C	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs879255264	TCT>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1064793383	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1064796723	T>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1131691404	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555418998	T>C	Pathogenic	Splice acceptor variant
rs1555456994	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1567294240	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1595790647	AACT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant

165

Show/Hide all (165)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003546	hsa-miR-204-5p	Luciferase reporter assayWestern blot	20713703
MIRT024859	hsa-miR-215-5p	Microarray	19074876
MIRT026864	hsa-miR-192-5p	Microarray	19074876
MIRT440253	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440253	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1142806	hsa-miR-1193	CLIP-seq
MIRT1142807	hsa-miR-1236	CLIP-seq
MIRT1142808	hsa-miR-1304	CLIP-seq
MIRT1142809	hsa-miR-1827	CLIP-seq
MIRT1142810	hsa-miR-337-5p	CLIP-seq
MIRT1142811	hsa-miR-3692	CLIP-seq
MIRT1142812	hsa-miR-421	CLIP-seq
MIRT1142813	hsa-miR-4253	CLIP-seq
MIRT1142814	hsa-miR-4420	CLIP-seq
MIRT1142815	hsa-miR-4452	CLIP-seq
MIRT1142816	hsa-miR-4485	CLIP-seq
MIRT1142817	hsa-miR-4502	CLIP-seq
MIRT1142818	hsa-miR-4661-5p	CLIP-seq
MIRT1142819	hsa-miR-4709-5p	CLIP-seq
MIRT1142820	hsa-miR-4753-3p	CLIP-seq
MIRT1142821	hsa-miR-4768-5p	CLIP-seq
MIRT1142822	hsa-miR-4799-5p	CLIP-seq
MIRT1142823	hsa-miR-4803	CLIP-seq
MIRT1142824	hsa-miR-543	CLIP-seq
MIRT1142825	hsa-miR-548a-3p	CLIP-seq
MIRT1142826	hsa-miR-548e	CLIP-seq
MIRT1142827	hsa-miR-548f	CLIP-seq
MIRT1142828	hsa-miR-548p	CLIP-seq
MIRT1142829	hsa-miR-570	CLIP-seq
MIRT1142830	hsa-miR-922	CLIP-seq
MIRT1142831	hsa-let-7a	CLIP-seq
MIRT1142832	hsa-let-7b	CLIP-seq
MIRT1142833	hsa-let-7c	CLIP-seq
MIRT1142834	hsa-let-7d	CLIP-seq
MIRT1142835	hsa-let-7e	CLIP-seq
MIRT1142836	hsa-let-7f	CLIP-seq
MIRT1142837	hsa-let-7g	CLIP-seq
MIRT1142838	hsa-let-7i	CLIP-seq
MIRT1142807	hsa-miR-1236	CLIP-seq
MIRT1142839	hsa-miR-1292	CLIP-seq
MIRT1142808	hsa-miR-1304	CLIP-seq
MIRT1142840	hsa-miR-1305	CLIP-seq
MIRT1142809	hsa-miR-1827	CLIP-seq
MIRT1142841	hsa-miR-202	CLIP-seq
MIRT1142842	hsa-miR-30a	CLIP-seq
MIRT1142843	hsa-miR-30b	CLIP-seq
MIRT1142844	hsa-miR-30c	CLIP-seq
MIRT1142845	hsa-miR-30d	CLIP-seq
MIRT1142846	hsa-miR-30e	CLIP-seq
MIRT1142847	hsa-miR-3122	CLIP-seq
MIRT1142848	hsa-miR-3148	CLIP-seq
MIRT1142849	hsa-miR-3190	CLIP-seq
MIRT1142810	hsa-miR-337-5p	CLIP-seq
MIRT1142850	hsa-miR-376c	CLIP-seq
MIRT1142851	hsa-miR-3911	CLIP-seq
MIRT1142852	hsa-miR-3913-5p	CLIP-seq
MIRT1142853	hsa-miR-4458	CLIP-seq
MIRT1142854	hsa-miR-4471	CLIP-seq
MIRT1142816	hsa-miR-4485	CLIP-seq
MIRT1142855	hsa-miR-4500	CLIP-seq
MIRT1142818	hsa-miR-4661-5p	CLIP-seq
MIRT1142820	hsa-miR-4753-3p	CLIP-seq
MIRT1142821	hsa-miR-4768-5p	CLIP-seq
MIRT1142856	hsa-miR-4789-3p	CLIP-seq
MIRT1142822	hsa-miR-4799-5p	CLIP-seq
MIRT1142823	hsa-miR-4803	CLIP-seq
MIRT1142824	hsa-miR-543	CLIP-seq
MIRT1142825	hsa-miR-548a-3p	CLIP-seq
MIRT1142826	hsa-miR-548e	CLIP-seq
MIRT1142827	hsa-miR-548f	CLIP-seq
MIRT1142828	hsa-miR-548p	CLIP-seq
MIRT1142829	hsa-miR-570	CLIP-seq
MIRT1142857	hsa-miR-648	CLIP-seq
MIRT1142858	hsa-miR-98	CLIP-seq
MIRT2040661	hsa-miR-623	CLIP-seq
MIRT1142807	hsa-miR-1236	CLIP-seq
MIRT1142808	hsa-miR-1304	CLIP-seq
MIRT2270382	hsa-miR-142-5p	CLIP-seq
MIRT1142809	hsa-miR-1827	CLIP-seq
MIRT1142810	hsa-miR-337-5p	CLIP-seq
MIRT1142811	hsa-miR-3692	CLIP-seq
MIRT1142812	hsa-miR-421	CLIP-seq
MIRT1142816	hsa-miR-4485	CLIP-seq
MIRT1142819	hsa-miR-4709-5p	CLIP-seq
MIRT1142820	hsa-miR-4753-3p	CLIP-seq
MIRT2270383	hsa-miR-4762-3p	CLIP-seq
MIRT1142821	hsa-miR-4768-5p	CLIP-seq
MIRT1142856	hsa-miR-4789-3p	CLIP-seq
MIRT1142822	hsa-miR-4799-5p	CLIP-seq
MIRT1142823	hsa-miR-4803	CLIP-seq
MIRT1142825	hsa-miR-548a-3p	CLIP-seq
MIRT1142826	hsa-miR-548e	CLIP-seq
MIRT1142827	hsa-miR-548f	CLIP-seq
MIRT1142831	hsa-let-7a	CLIP-seq
MIRT1142832	hsa-let-7b	CLIP-seq
MIRT1142833	hsa-let-7c	CLIP-seq
MIRT1142834	hsa-let-7d	CLIP-seq
MIRT1142835	hsa-let-7e	CLIP-seq
MIRT1142836	hsa-let-7f	CLIP-seq
MIRT1142837	hsa-let-7g	CLIP-seq
MIRT1142838	hsa-let-7i	CLIP-seq
MIRT1142841	hsa-miR-202	CLIP-seq
MIRT1142842	hsa-miR-30a	CLIP-seq
MIRT1142843	hsa-miR-30b	CLIP-seq
MIRT1142844	hsa-miR-30c	CLIP-seq
MIRT1142845	hsa-miR-30d	CLIP-seq
MIRT1142846	hsa-miR-30e	CLIP-seq
MIRT1142853	hsa-miR-4458	CLIP-seq
MIRT1142855	hsa-miR-4500	CLIP-seq
MIRT1142818	hsa-miR-4661-5p	CLIP-seq
MIRT1142824	hsa-miR-543	CLIP-seq
MIRT1142828	hsa-miR-548p	CLIP-seq
MIRT1142858	hsa-miR-98	CLIP-seq
MIRT1142831	hsa-let-7a	CLIP-seq
MIRT1142832	hsa-let-7b	CLIP-seq
MIRT1142833	hsa-let-7c	CLIP-seq
MIRT1142834	hsa-let-7d	CLIP-seq
MIRT1142835	hsa-let-7e	CLIP-seq
MIRT1142836	hsa-let-7f	CLIP-seq
MIRT1142837	hsa-let-7g	CLIP-seq
MIRT1142838	hsa-let-7i	CLIP-seq
MIRT2569564	hsa-miR-101	CLIP-seq
MIRT1142840	hsa-miR-1305	CLIP-seq
MIRT2569565	hsa-miR-144	CLIP-seq
MIRT1142841	hsa-miR-202	CLIP-seq
MIRT1142842	hsa-miR-30a	CLIP-seq
MIRT1142843	hsa-miR-30b	CLIP-seq
MIRT1142844	hsa-miR-30c	CLIP-seq
MIRT1142845	hsa-miR-30d	CLIP-seq
MIRT1142846	hsa-miR-30e	CLIP-seq
MIRT2569566	hsa-miR-338-5p	CLIP-seq
MIRT2569567	hsa-miR-3664-5p	CLIP-seq
MIRT1142811	hsa-miR-3692	CLIP-seq
MIRT1142850	hsa-miR-376c	CLIP-seq
MIRT2569568	hsa-miR-4251	CLIP-seq
MIRT1142853	hsa-miR-4458	CLIP-seq
MIRT1142855	hsa-miR-4500	CLIP-seq
MIRT1142818	hsa-miR-4661-5p	CLIP-seq
MIRT2569569	hsa-miR-4663	CLIP-seq
MIRT2569570	hsa-miR-4666-3p	CLIP-seq
MIRT2569571	hsa-miR-4680-5p	CLIP-seq
MIRT1142820	hsa-miR-4753-3p	CLIP-seq
MIRT2569572	hsa-miR-4760-3p	CLIP-seq
MIRT1142856	hsa-miR-4789-3p	CLIP-seq
MIRT2569573	hsa-miR-490-5p	CLIP-seq
MIRT2569574	hsa-miR-494	CLIP-seq
MIRT2569575	hsa-miR-539	CLIP-seq
MIRT1142824	hsa-miR-543	CLIP-seq
MIRT1142828	hsa-miR-548p	CLIP-seq
MIRT2569576	hsa-miR-582-5p	CLIP-seq
MIRT2569577	hsa-miR-630	CLIP-seq
MIRT2569578	hsa-miR-633	CLIP-seq
MIRT1142830	hsa-miR-922	CLIP-seq
MIRT1142858	hsa-miR-98	CLIP-seq
MIRT2569566	hsa-miR-338-5p	CLIP-seq
MIRT1142811	hsa-miR-3692	CLIP-seq
MIRT2569568	hsa-miR-4251	CLIP-seq
MIRT1142818	hsa-miR-4661-5p	CLIP-seq
MIRT2569569	hsa-miR-4663	CLIP-seq
MIRT2569570	hsa-miR-4666-3p	CLIP-seq
MIRT2569572	hsa-miR-4760-3p	CLIP-seq
MIRT2569573	hsa-miR-490-5p	CLIP-seq
MIRT2569575	hsa-miR-539	CLIP-seq
MIRT1142828	hsa-miR-548p	CLIP-seq
MIRT1142830	hsa-miR-922	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	10764806
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	10764806
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	10764806
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001654	Process	Eye development	IBA
GO:0001654	Process	Eye development	IEA
GO:0003677	Function	DNA binding	IDA	26550823
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	19559479, 20211142, 20553494, 22458338, 25416956, 31515488, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007420	Process	Brain development	IBA
GO:0008134	Function	Transcription factor binding	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008542	Process	Visual learning	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009880	Process	Embryonic pattern specification	IBA
GO:0009887	Process	Animal organ morphogenesis	IBA
GO:0031016	Process	Pancreas development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	17178831
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	ISS
GO:0045931	Process	Positive regulation of mitotic cell cycle	IDA	26512644
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10764806
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070848	Process	Response to growth factor	IEA
GO:0110024	Process	Positive regulation of cardiac muscle myoblast proliferation	IDA	26512644
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601740	7001	ENSG00000134138

O14770

Protein name

Homeobox protein Meis2 (Meis1-related protein 1)

Protein function

Involved in transcriptional regulation. Binds to HOX or PBX proteins to form dimers, or to a DNA-bound dimer of PBX and HOX proteins and thought to have a role in stabilization of the homeoprotein-DNA complex. Isoform 3 is required for the activ

PDB

3K2A , 4XRM , 5BNG , 5EG0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16493	Meis_PKNOX_N	110 → 194	N-terminal of Homeobox Meis and PKNOX1	Family
PF05920	Homeobox_KN	294 → 333	Homeobox KN domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in various tissues. Expressed at high level in the lymphoid organs of hematopoietic tissues. Also expressed in some regions of the brain, such as the putamen.

Sequence

MAQRYDELPHYGGMDGVGVPASMYGDPHAPRPIPPVHHLNHGPPLHATQHYGAHAPHPNV
MPASMGSAVNDALKRDKDAIYGHPLFPLLALVFEKCELATCTPREPGVAGGDVCSSDSFN
EDIAVFAKQVRAEKPLFSSNPELDNLMIQAIQVLRFHLLELEKVHELCDNFCHRYISCLK
GKMPIDLVIDERDGSSKSDHEELSGSSTNLADHNPSSWRDHDDATSTHSAGTPGPSSGGH
ASQSGDNSSEQGDGLDNSVASPGTGDDDDPDKDKKRQKKRGIFPKVATNIMRAWLFQHLT
HPYPSEEQKKQLAQDTGLTILQVNNWFINARRRIVQPMIDQSNRAGFLLDPSVSQGAAYS
PEGQPMGSFVLDGQQHMGIRPAGLQSMPGDYVSQGGPMGMSMAQPSYTPPQMTPHPTQLR
HGPPMHSYLPSHPHHPAMMMHGGPPTHPGMTMSAQSPTMLNSVDPNVGGQVMDIHAQ

Sequence length

477

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	Likely pathogenic; Pathogenic	rs1385058993, rs2141225123, rs2141389679, rs2141389703, rs2141917789, rs2140088419, rs2141225080, rs2141389824, rs2141389688, rs2504536056, rs2504250471, rs2504250536, rs879255264, rs2504981401, rs2505270713 View all (8 more)	RCV001335517 RCV001563674 RCV001706930 RCV001814913 RCV001843737 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cleft palate	Likely pathogenic; Pathogenic	rs879255264	RCV004798814	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MEIS2-related disorder	Likely pathogenic; Pathogenic	rs879255264, rs2505246796	RCV000509419 RCV004534567	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
15Q14 MICRODELETION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE-CONGENITAL HEART DEFECT-INTELLECTUAL DISABILITY SYNDROME DUE TO 15Q14 MICRODELETION	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, OPEN-ANGLE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (87)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
15q14 microdeletion syndrome	15q14 Deletion Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acne	Acne	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30584014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	30594396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	29322350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	39615603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	31640805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30742945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25210800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30742945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	GENOMICS_ENGLAND_DG	24678003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	30735726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies	Cleft palate, cardiac defects, and mental retardation	GENOMICS_ENGLAND_DG	30055086		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies	Cleft palate, cardiac defects, and mental retardation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies	Cleft palate, cardiac defects, and mental retardation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 15q14 DELETION SYNDROME	15q14 Deletion Syndrome	ORPHANET_DG	17163532, 18458017, 18561338, 20425846, 21504564, 24678003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	30291340, 39789493	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cognition Disorders	Cognition disorder	Pubtator	39615603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30859572, 31115559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	28393025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	GENOMICS_ENGLAND_DG	30055086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30291340, 37372421, 39789493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	30055086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	39789493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	27225850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	21617755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	29452408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38563293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27225850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	30291340, 39789493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	BEFREE	25712757, 27225850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	39615603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	38563293	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17163532, 25712757, 27225850, 30055086, 30291340, 30735726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	24678003, 30055086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30291340, 30584014, 39789493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	24678003		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disabilities	Learning disorders	Pubtator	30584014	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	22185299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27346355, 28960191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27346355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31623651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	30742945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22723371, 29716922, 31640805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30742945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25210800, 27346355, 29716922, 31115559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17163532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30975979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30975979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31315484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15077168, 29716922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12880965, 25210800, 29382709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25210800, 33277872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30584014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	22095678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	GENOMICS_ENGLAND_DG	30055086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26561393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Otofaciocervical syndrome	Pubtator	26561393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22723371, 29716922, 31640805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	22723371, 29716922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22723371	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29716922, 30917865, 31640805, 32540218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	32729462	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	31640805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	29322350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	30859572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35416122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	27125413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	27125413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	20824721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	33975520	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	24678003, 25712757, 30735726		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	BEFREE	30055086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

MEIS2 (Meis homeobox 2)