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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4094
Gene name	MAF bZIP transcription factor
Gene symbol	MAF
Synonyms (NCBI Gene)	AYGRPCCA4CTRCT21c-MAF
Chromosome	16
Chromosome location	16q23.2
Summary	The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or re

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Show/Hide all (126)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003208	kshv-miR-K12-1-5p	Luciferase reporter assayqRT-PCR	20080955
MIRT003208	kshv-miR-K12-1-5p	Luciferase reporter assayqRT-PCR	20080955
MIRT003207	kshv-miR-K12-11-3p	Luciferase reporter assayqRT-PCR	20080955
MIRT003207	kshv-miR-K12-11-3p	Luciferase reporter assayqRT-PCR	20080955
MIRT003206	kshv-miR-K12-6-3p	Luciferase reporter assayqRT-PCR	20080955
MIRT003206	kshv-miR-K12-6-3p	Luciferase reporter assayqRT-PCR	20080955
MIRT003205	kshv-miR-K12-6-5p	qRT-PCR	20080955
MIRT556368	hsa-miR-451b	PAR-CLIP	21572407
MIRT556367	hsa-miR-4802-5p	PAR-CLIP	21572407
MIRT556366	hsa-miR-6514-5p	PAR-CLIP	21572407
MIRT556365	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT556364	hsa-miR-10b-3p	PAR-CLIP	21572407
MIRT285209	hsa-miR-621	PAR-CLIP	21572407
MIRT556363	hsa-miR-4434	PAR-CLIP	21572407
MIRT556362	hsa-miR-4516	PAR-CLIP	21572407
MIRT556361	hsa-miR-5703	PAR-CLIP	21572407
MIRT556359	hsa-miR-5100	PAR-CLIP	21572407
MIRT556360	hsa-miR-4531	PAR-CLIP	21572407
MIRT556358	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT497281	hsa-miR-618	PAR-CLIP	22291592
MIRT497280	hsa-miR-499a-3p	PAR-CLIP	22291592
MIRT497279	hsa-miR-499b-3p	PAR-CLIP	22291592
MIRT497278	hsa-miR-4640-3p	PAR-CLIP	22291592
MIRT497277	hsa-miR-3143	PAR-CLIP	22291592
MIRT497276	hsa-miR-6798-3p	PAR-CLIP	22291592
MIRT497275	hsa-miR-302c-5p	PAR-CLIP	22291592
MIRT736222	hsa-miR-29b-2-5p	RNA-seqqRT-PCR	33808771
MIRT556368	hsa-miR-451b	PAR-CLIP	21572407
MIRT556367	hsa-miR-4802-5p	PAR-CLIP	21572407
MIRT556366	hsa-miR-6514-5p	PAR-CLIP	21572407
MIRT556365	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT556364	hsa-miR-10b-3p	PAR-CLIP	21572407
MIRT285209	hsa-miR-621	PAR-CLIP	21572407
MIRT556363	hsa-miR-4434	PAR-CLIP	21572407
MIRT556362	hsa-miR-4516	PAR-CLIP	21572407
MIRT556361	hsa-miR-5703	PAR-CLIP	21572407
MIRT556359	hsa-miR-5100	PAR-CLIP	21572407
MIRT556360	hsa-miR-4531	PAR-CLIP	21572407
MIRT556358	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT497281	hsa-miR-618	PAR-CLIP	22291592
MIRT497280	hsa-miR-499a-3p	PAR-CLIP	22291592
MIRT497279	hsa-miR-499b-3p	PAR-CLIP	22291592
MIRT497278	hsa-miR-4640-3p	PAR-CLIP	22291592
MIRT497277	hsa-miR-3143	PAR-CLIP	22291592
MIRT497276	hsa-miR-6798-3p	PAR-CLIP	22291592
MIRT497275	hsa-miR-302c-5p	PAR-CLIP	22291592
MIRT1125223	hsa-miR-1207-5p	CLIP-seq
MIRT1125224	hsa-miR-1208	CLIP-seq
MIRT1125225	hsa-miR-1273f	CLIP-seq
MIRT1125226	hsa-miR-1303	CLIP-seq
MIRT1125227	hsa-miR-147	CLIP-seq
MIRT1125228	hsa-miR-183	CLIP-seq
MIRT1125229	hsa-miR-2052	CLIP-seq
MIRT1125230	hsa-miR-2054	CLIP-seq
MIRT1125231	hsa-miR-210	CLIP-seq
MIRT1125232	hsa-miR-216a	CLIP-seq
MIRT1125233	hsa-miR-23a	CLIP-seq
MIRT1125234	hsa-miR-23b	CLIP-seq
MIRT1125235	hsa-miR-23c	CLIP-seq
MIRT1125236	hsa-miR-3185	CLIP-seq
MIRT1125237	hsa-miR-342-3p	CLIP-seq
MIRT1125238	hsa-miR-3664-3p	CLIP-seq
MIRT1125239	hsa-miR-3685	CLIP-seq
MIRT1125240	hsa-miR-384	CLIP-seq
MIRT1125241	hsa-miR-3917	CLIP-seq
MIRT1125242	hsa-miR-3923	CLIP-seq
MIRT1125243	hsa-miR-4282	CLIP-seq
MIRT1125244	hsa-miR-4433	CLIP-seq
MIRT1125245	hsa-miR-4436b-5p	CLIP-seq
MIRT1125246	hsa-miR-4459	CLIP-seq
MIRT1125247	hsa-miR-4511	CLIP-seq
MIRT1125248	hsa-miR-452	CLIP-seq
MIRT1125249	hsa-miR-4659a-3p	CLIP-seq
MIRT1125250	hsa-miR-4659b-3p	CLIP-seq
MIRT1125251	hsa-miR-4676-3p	CLIP-seq
MIRT1125252	hsa-miR-4680-5p	CLIP-seq
MIRT1125253	hsa-miR-4717-3p	CLIP-seq
MIRT1125254	hsa-miR-4736	CLIP-seq
MIRT1125255	hsa-miR-4763-3p	CLIP-seq
MIRT1125256	hsa-miR-4768-3p	CLIP-seq
MIRT1125257	hsa-miR-4778-3p	CLIP-seq
MIRT1125258	hsa-miR-510	CLIP-seq
MIRT1125259	hsa-miR-513a-3p	CLIP-seq
MIRT1125260	hsa-miR-548a-3p	CLIP-seq
MIRT1125261	hsa-miR-548e	CLIP-seq
MIRT1125262	hsa-miR-548f	CLIP-seq
MIRT1125263	hsa-miR-644	CLIP-seq
MIRT1125264	hsa-miR-657	CLIP-seq
MIRT1125265	hsa-miR-3124-3p	CLIP-seq
MIRT1125239	hsa-miR-3685	CLIP-seq
MIRT1125240	hsa-miR-384	CLIP-seq
MIRT1125266	hsa-miR-3924	CLIP-seq
MIRT1125267	hsa-miR-4315	CLIP-seq
MIRT1125268	hsa-miR-448	CLIP-seq
MIRT1125269	hsa-miR-4528	CLIP-seq
MIRT1125270	hsa-miR-586	CLIP-seq
MIRT1125271	hsa-miR-885-5p	CLIP-seq
MIRT1125233	hsa-miR-23a	CLIP-seq
MIRT1125234	hsa-miR-23b	CLIP-seq
MIRT1125235	hsa-miR-23c	CLIP-seq
MIRT1125236	hsa-miR-3185	CLIP-seq
MIRT2035349	hsa-miR-3662	CLIP-seq
MIRT1125238	hsa-miR-3664-3p	CLIP-seq
MIRT2035350	hsa-miR-499-3p	CLIP-seq
MIRT2035351	hsa-miR-656	CLIP-seq
MIRT2265836	hsa-miR-1305	CLIP-seq
MIRT2265837	hsa-miR-145	CLIP-seq
MIRT2265838	hsa-miR-330-3p	CLIP-seq
MIRT2265839	hsa-miR-3591-5p	CLIP-seq
MIRT2265840	hsa-miR-3691-5p	CLIP-seq
MIRT2265841	hsa-miR-4277	CLIP-seq
MIRT2265842	hsa-miR-4428	CLIP-seq
MIRT1125244	hsa-miR-4433	CLIP-seq
MIRT2265843	hsa-miR-4668-3p	CLIP-seq
MIRT2265844	hsa-miR-4752	CLIP-seq
MIRT2035350	hsa-miR-499-3p	CLIP-seq
MIRT2265845	hsa-miR-659	CLIP-seq
MIRT2265846	hsa-miR-9	CLIP-seq
MIRT2453600	hsa-miR-129-5p	CLIP-seq
MIRT2453601	hsa-miR-3140-3p	CLIP-seq
MIRT2453602	hsa-miR-4314	CLIP-seq
MIRT2453603	hsa-miR-4450	CLIP-seq
MIRT2453604	hsa-miR-4667-5p	CLIP-seq
MIRT2453605	hsa-miR-4700-5p	CLIP-seq
MIRT2453606	hsa-miR-4795-3p	CLIP-seq
MIRT2453607	hsa-miR-637	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	NAS	27052415, 33897412
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	TAS	9616139
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
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	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	20102225, 23661758
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	23661758
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	23661758
GO:0006366	Process	Transcription by RNA polymerase II	TAS	9616139
GO:0007584	Process	Response to nutrient	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0030219	Process	Megakaryocyte differentiation	IMP	25857263
GO:0032330	Process	Regulation of chondrocyte differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	20102225, 23661758
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048468	Process	Cell development	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0070306	Process	Lens fiber cell differentiation	IBA
GO:0070306	Process	Lens fiber cell differentiation	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	20102225, 23661758
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:0140467	Process	Integrated stress response signaling	NAS	28566324
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
177075	6776	ENSG00000178573

O75444

Protein name

Transcription factor Maf (Proto-oncogene c-Maf) (V-maf musculoaponeurotic fibrosarcoma oncogene homolog)

Protein function

Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08383	Maf_N	86 → 119	Maf N-terminal region	Family
PF03131	bZIP_Maf	261 → 352	bZIP Maf transcription factor	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Expressed in endothelial cells. {ECO:0000269|PubMed:17897790}.

Sequence

MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPM
STPCSSVPPSPSFSAPSPGSGSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISN
SHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPAAAVVSAVIAAAAAQSGAGPH
YHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA
GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRG
YAQSCRFKRVQQRHVLESEKNQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENG
SSSDNPSSPEFFM

Sequence length

373

Interactions

View interactions

	KEGG
	Th1 and Th2 cell differentiation Transcriptional misregulation in cancer Inflammatory bowel disease

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ayme-Gripp syndrome	Likely pathogenic; Pathogenic	rs727502771, rs786205221, rs727502768, rs727502770, rs727502769, rs727502767, rs727502766, rs1481963503, rs1555530022, rs1597847611, rs1913781557	RCV001775246 RCV001904986 RCV000149908 RCV000149907 RCV000149906 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cataract 21 multiple types	Likely pathogenic; Pathogenic	rs727502771, rs786205221, rs786205222, rs2143800981, rs2143816916, rs121917735, rs121917736, rs1481963503, rs1555530022, rs1597847611, rs1913779276, rs1913781557	RCV002541042 RCV001904986 RCV000170458 RCV000170459 RCV003487066 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental cataract	Likely pathogenic	rs864309692, rs864309695, rs864309678, rs1057518878	RCV000203395 RCV000203408 RCV000203389 RCV000415117	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MAF-related disorder	Pathogenic; Likely pathogenic	rs727502766, rs2507655460	RCV004754316 RCV003402816	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (34)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT - MICROCORNEA SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 21 MULTIPLE TYPE S	—	CTD, ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 21, MULTIPLE TYPE S	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT MICROCORNEA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CONGENITAL, CERULEAN TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, PULVERULENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, PULVERULENT, JUVENILE-ONSET	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT-MICROCORNEA SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, INTRAHEPATIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	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, 28	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (102)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	30160832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34852950, 40139278	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	30087444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
	Ayme-Gripp Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34272498	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37224458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	19215682	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	11772997, 12620964, 12642301, 25064449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	12642301, 25865493, 29914532, 37203095, 38180241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	LHGDN	16470690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 21, MULTIPLE TYPES	Cataract	GENOMICS_ENGLAND_DG	11772997, 17982426		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 21, MULTIPLE TYPES	Cataract	UNIPROT_DG	11772997, 16470690, 24664492		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 21, MULTIPLE TYPES	Cataract	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	12642301	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract microcornea syndrome	Cataract	ORPHANET_DG	17982426		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, congenital, cerulean type 1	Cataract	ORPHANET_DG	16470690		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, congenital, cerulean type 1	Cataract	BEFREE	21850180		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, congenital, cerulean type 1	Cataract	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, COPPOCK-LIKE	Cataract	ORPHANET_DG	11772997, 12642301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract, Pulverulent	Cataract	ORPHANET_DG	11772997, 12642301		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Pulverulent	Cataract	BEFREE	12642301		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Pulverulent, Juvenile-Onset	Pulverulent Cataract	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract-microcornea syndrome	Cataract-microcornea syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation	Ayme-gripp syndrome	GENOMICS_ENGLAND_DG	25865493		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation	Ayme-gripp syndrome	UNIPROT_DG	25865493		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation	Ayme-gripp syndrome	BEFREE	28482824, 31600839		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation	Ayme-gripp syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation	Ayme-gripp syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	36802116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerulean cataract	Cataract	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	27981602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	40139278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	23695510	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	12642301	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	30510241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18058096		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	30510241		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	BEFREE	11772997, 25064449		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	CLINVAR_DG	26694549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	BEFREE	11772997, 12642301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	11772997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical pulverulent cataract	Cortical cataract	BEFREE	12620964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical pulverulent cataract	Cortical cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	25865493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	25865493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	34852950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	25865493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	28300844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	25865493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	36899621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	25865493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	21192842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	32595646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	25865493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	17158640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	19215682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	25865493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	CTD_human_DG	20146260		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irido-corneal dysgenesis	Anterior segment dysgenesis	BEFREE	11772997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26694163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	21192842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	19687312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19687312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19143053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	BEFREE	12642301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11418483, 14531906, 16728703, 17550853, 17914559, 19013005, 19446321, 19687312, 21163924, 21173094, 22689675, 24638926, 26728187, 27793878, 28933784 View all (8 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	14692531, 16044163, 17897790, 18042454, 19143053, 19687312, 20718938, 21224354, 25996654, 26728187, 27793878, 28008178, 28933784, 29463311, 31218784, 9616139 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	14692531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35383094	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple System Atrophy	Multiple system atrophy	Pubtator	25865493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16247450, 19143053, 19687312, 24210217, 24509877, 30591866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	14688382, 28944848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	LHGDN	14688382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	14688382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental disorder	Pubtator	25865493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	24509877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19151714, 23840443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	23840443	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	19215682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37967238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulverulent cataract	Pulverulent Cataract	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	25865493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	34852950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26694163, 34356658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	16424013, 18059226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28839436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	12642301	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MAF (MAF bZIP transcription factor)