BRPF1 (bromodomain and PHD finger containing 1)

Gene

• Entrez ID: 7862
• Gene name: Bromodomain and PHD finger containing 1
• Gene symbol: BRPF1
• Synonyms (NCBI Gene): BR140, IDDDFP
• Chromosome: 3
• Chromosome location: 3p25.3
• Summary: This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. T

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs762904815	C>-,CC,CCC	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs886041090	TG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519509	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057519510	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519511	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519512	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519513	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519514	C>G	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519515	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057519516	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519517	->A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1553693702	G>A	Pathogenic	Missense variant, non coding transcript variant, initiator codon variant
rs1553693712	TT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553693863	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553695017	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553695038	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1553695222	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553695254	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553696275	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553697341	CTT>-	Likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs1559662068	AG>T	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559662077	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1575147387	GGACACCCCTGAT>AGGTAGAGGTG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575155995	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575164369	ATAG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052041	hsa-let-7b-5p	CLASH	23622248
MIRT050786	hsa-miR-17-3p	CLASH	23622248
MIRT047074	hsa-miR-183-5p	CLASH	23622248
MIRT043564	hsa-miR-331-3p	CLASH	23622248
MIRT480714	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT480713	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT480712	hsa-miR-4468	PAR-CLIP	23592263
MIRT480711	hsa-miR-6134	PAR-CLIP	23592263
MIRT480710	hsa-miR-6735-3p	PAR-CLIP	23592263
MIRT480708	hsa-miR-5187-5p	PAR-CLIP	23592263
MIRT480709	hsa-miR-4451	PAR-CLIP	23592263
MIRT480707	hsa-miR-541-3p	PAR-CLIP	23592263
MIRT480706	hsa-miR-654-5p	PAR-CLIP	23592263
MIRT480705	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT480703	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT480704	hsa-miR-4654	PAR-CLIP	23592263
MIRT480702	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT480701	hsa-miR-6728-5p	PAR-CLIP	23592263
MIRT480700	hsa-miR-488-3p	PAR-CLIP	23592263
MIRT480699	hsa-miR-6715a-3p	PAR-CLIP	23592263
MIRT480698	hsa-miR-5681a	PAR-CLIP	23592263
MIRT480697	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT480696	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT480695	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT480694	hsa-miR-5698	PAR-CLIP	23592263
MIRT480693	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT480692	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT480690	hsa-miR-4525	PAR-CLIP	23592263
MIRT480691	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT480689	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT480688	hsa-miR-4447	PAR-CLIP	23592263
MIRT480687	hsa-miR-4472	PAR-CLIP	23592263
MIRT480686	hsa-miR-1275	PAR-CLIP	23592263
MIRT480685	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT480684	hsa-miR-510-3p	PAR-CLIP	23592263
MIRT480683	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT480714	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT480713	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT480712	hsa-miR-4468	PAR-CLIP	23592263
MIRT480711	hsa-miR-6134	PAR-CLIP	23592263
MIRT480710	hsa-miR-6735-3p	PAR-CLIP	23592263
MIRT480708	hsa-miR-5187-5p	PAR-CLIP	23592263
MIRT480709	hsa-miR-4451	PAR-CLIP	23592263
MIRT480707	hsa-miR-541-3p	PAR-CLIP	23592263
MIRT480706	hsa-miR-654-5p	PAR-CLIP	23592263
MIRT480705	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT480703	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT480704	hsa-miR-4654	PAR-CLIP	23592263
MIRT480702	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT480701	hsa-miR-6728-5p	PAR-CLIP	23592263
MIRT480700	hsa-miR-488-3p	PAR-CLIP	23592263
MIRT480699	hsa-miR-6715a-3p	PAR-CLIP	23592263
MIRT480698	hsa-miR-5681a	PAR-CLIP	23592263
MIRT480697	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT480696	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT480695	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT480694	hsa-miR-5698	PAR-CLIP	23592263
MIRT480693	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT480692	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT480690	hsa-miR-4525	PAR-CLIP	23592263
MIRT480691	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT480689	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT480688	hsa-miR-4447	PAR-CLIP	23592263
MIRT480687	hsa-miR-4472	PAR-CLIP	23592263
MIRT480686	hsa-miR-1275	PAR-CLIP	23592263
MIRT480685	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT480684	hsa-miR-510-3p	PAR-CLIP	23592263
MIRT480683	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT825331	hsa-miR-101	CLIP-seq
MIRT825332	hsa-miR-144	CLIP-seq
MIRT825333	hsa-miR-1909	CLIP-seq
MIRT825334	hsa-miR-214	CLIP-seq
MIRT825335	hsa-miR-3136-3p	CLIP-seq
MIRT825336	hsa-miR-328	CLIP-seq
MIRT825337	hsa-miR-3619-5p	CLIP-seq
MIRT825338	hsa-miR-371-3p	CLIP-seq
MIRT825339	hsa-miR-371b-3p	CLIP-seq
MIRT825340	hsa-miR-4419a	CLIP-seq
MIRT825341	hsa-miR-4510	CLIP-seq
MIRT825342	hsa-miR-4699-3p	CLIP-seq
MIRT825343	hsa-miR-4728-5p	CLIP-seq
MIRT825344	hsa-miR-515-3p	CLIP-seq
MIRT825345	hsa-miR-519e	CLIP-seq
MIRT825346	hsa-miR-582-5p	CLIP-seq
MIRT825347	hsa-miR-761	CLIP-seq
MIRT825331	hsa-miR-101	CLIP-seq
MIRT825332	hsa-miR-144	CLIP-seq
MIRT825333	hsa-miR-1909	CLIP-seq
MIRT825334	hsa-miR-214	CLIP-seq
MIRT825348	hsa-miR-3153	CLIP-seq
MIRT825349	hsa-miR-3154	CLIP-seq
MIRT825337	hsa-miR-3619-5p	CLIP-seq
MIRT825350	hsa-miR-4311	CLIP-seq
MIRT825351	hsa-miR-4522	CLIP-seq
MIRT825352	hsa-miR-4634	CLIP-seq
MIRT825353	hsa-miR-4668-5p	CLIP-seq
MIRT825342	hsa-miR-4699-3p	CLIP-seq
MIRT825343	hsa-miR-4728-5p	CLIP-seq
MIRT825354	hsa-miR-520d-5p	CLIP-seq
MIRT825355	hsa-miR-524-5p	CLIP-seq
MIRT825356	hsa-miR-580	CLIP-seq
MIRT825347	hsa-miR-761	CLIP-seq
MIRT825357	hsa-miR-935	CLIP-seq
MIRT1943890	hsa-miR-1587	CLIP-seq
MIRT1943891	hsa-miR-185	CLIP-seq
MIRT825333	hsa-miR-1909	CLIP-seq
MIRT1943892	hsa-miR-203	CLIP-seq
MIRT825334	hsa-miR-214	CLIP-seq
MIRT1943893	hsa-miR-224	CLIP-seq
MIRT1943894	hsa-miR-3121-5p	CLIP-seq
MIRT1943895	hsa-miR-3147	CLIP-seq
MIRT1943896	hsa-miR-3150b-3p	CLIP-seq
MIRT825348	hsa-miR-3153	CLIP-seq
MIRT825337	hsa-miR-3619-5p	CLIP-seq
MIRT825338	hsa-miR-371-3p	CLIP-seq
MIRT825339	hsa-miR-371b-3p	CLIP-seq
MIRT1943897	hsa-miR-4306	CLIP-seq
MIRT825340	hsa-miR-4419a	CLIP-seq
MIRT1943898	hsa-miR-4436a	CLIP-seq
MIRT1943899	hsa-miR-4492	CLIP-seq
MIRT1943900	hsa-miR-4498	CLIP-seq
MIRT825341	hsa-miR-4510	CLIP-seq
MIRT1943901	hsa-miR-4644	CLIP-seq
MIRT1943902	hsa-miR-4656	CLIP-seq
MIRT1943903	hsa-miR-4659a-3p	CLIP-seq
MIRT1943904	hsa-miR-4659b-3p	CLIP-seq
MIRT825353	hsa-miR-4668-5p	CLIP-seq
MIRT1943905	hsa-miR-4674	CLIP-seq
MIRT1943906	hsa-miR-4675	CLIP-seq
MIRT825342	hsa-miR-4699-3p	CLIP-seq
MIRT825343	hsa-miR-4728-5p	CLIP-seq
MIRT1943907	hsa-miR-4741	CLIP-seq
MIRT1943908	hsa-miR-4784	CLIP-seq
MIRT1943909	hsa-miR-488	CLIP-seq
MIRT1943910	hsa-miR-508-5p	CLIP-seq
MIRT1943911	hsa-miR-513a-5p	CLIP-seq
MIRT825344	hsa-miR-515-3p	CLIP-seq
MIRT825345	hsa-miR-519e	CLIP-seq
MIRT1943912	hsa-miR-625	CLIP-seq
MIRT1943913	hsa-miR-665	CLIP-seq
MIRT825347	hsa-miR-761	CLIP-seq
MIRT1943914	hsa-miR-762	CLIP-seq
MIRT1943915	hsa-miR-765	CLIP-seq
MIRT2182579	hsa-miR-1236	CLIP-seq
MIRT2182580	hsa-miR-3652	CLIP-seq
MIRT2182581	hsa-miR-4430	CLIP-seq
MIRT1943898	hsa-miR-4436a	CLIP-seq
MIRT2182582	hsa-miR-4520a-3p	CLIP-seq
MIRT2182583	hsa-miR-4638-3p	CLIP-seq
MIRT2182584	hsa-miR-4645-5p	CLIP-seq
MIRT2182585	hsa-miR-4673	CLIP-seq
MIRT2182586	hsa-miR-4749-3p	CLIP-seq
MIRT1943910	hsa-miR-508-5p	CLIP-seq
MIRT1943913	hsa-miR-665	CLIP-seq
MIRT2486290	hsa-miR-148a	CLIP-seq
MIRT2486291	hsa-miR-148b	CLIP-seq
MIRT2486292	hsa-miR-152	CLIP-seq
MIRT2486293	hsa-miR-2467-3p	CLIP-seq
MIRT2486294	hsa-miR-3678-3p	CLIP-seq
MIRT2486295	hsa-miR-4697-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000123	Component	Histone acetyltransferase complex	IDA	24065767
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25281266, 32296183
GO:0005634	Component	Nucleus	IDA	18794358, 24065767, 25593309, 27939640
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	27939640
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IMP	27939640
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	18794358
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010698	Function	Acetyltransferase activator activity	IDA	27939640
GO:0043995	Function	Histone H4K5 acetyltransferase activity	IDA	16387653
GO:0043996	Function	Histone H4K8 acetyltransferase activity	IDA	16387653
GO:0043997	Function	Histone H4K12 acetyltransferase activity	IDA	16387653
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	18794358
GO:0046872	Function	Metal ion binding	IEA
GO:0050793	Process	Regulation of developmental process	NAS	16387653
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IBA
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IDA	16387653, 18794358, 27939640
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IEA
GO:1903706	Process	Regulation of hemopoiesis	NAS	16387653

Other IDs

• MIM: 602410
• HGNC: 14255
• e!Ensembl: ENSG00000156983

Protein

• UniProt ID: P55201
• Protein name: Peregrin (Bromodomain and PHD finger-containing protein 1) (Protein Br140)
• Protein function: Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, which have a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:24065767, PubMed:27939640). Plays a key role in HBO1 comp
• PDB: 2D9E, 2RS9, 2X35, 2X4W, 2X4X, 2X4Y, 3L42, 3MO8, 4LC2, 4QYD, 4QYL, 4UYE, 5C6S, 5C7N, 5C85, 5C87, 5C89, 5D7X, 5DY7, 5DYA, 5DYC, 5E3D, 5E3G, 5EM3, 5EPR, 5EPS, 5EQ1, 5ERC, 5ETB, 5ETD, 5EV9, 5EVA, 5EWC, 5EWD, 5EWH, 5EWV, 5EWW, 5FFV, 5FFW, 5FFY, 5FG4, 5FG5, 5G4R, 5G4S, 5MWG, 5MWH, 5MWZ, 5MYG, 5O4S, 5O4T, 5O55
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10513	EPL1	106 → 255	Enhancer of polycomb-like	Family
  PF13831	PHD_2	287 → 321		Family
  PF13832	zf-HC5HC2H_2	328 → 447		Domain
  PF00439	Bromodomain	637 → 720	Bromodomain	Domain
  PF00855	PWWP	1083 → 1200	PWWP domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: High levels in testis. {ECO:0000269|PubMed:7906940}.
• Sequence:

  MGVDFDVKTFCHNLRATKPPYECPVETCRKVYKSYSGIEYHLYHYDHDNPPPPQQTPLRK
  HKKKGRQSRPANKQSPSPSEVSQSPGREVMSYAQAQRMVEVDLHGRVHRISIFDNLDVVS
  EDEEAPEEAPENGSNKENTETPAATPKSGKHKNKEKRKDSNHHHHHNVSASTTPKLPEVV
  YRELEQDTPDAPPRPTSYYRYIEKSAEELDEEVEYDMDEEDYIWLDIMNERRKTEGVSPI
  PQEIFEYLMDRLEKESYFESHNKGDPNALVDEDAVCCICNDGECQNSNVILFCDMCNLAV
  HQECYGVPYIPEGQWLCRRCLQSPSRAVDCALCPNKGGAFKQTDDGRWAHVVCALWIPEV
  CFANTVFLEPIDSIEHIPPARWKLTCYICKQRGSGACIQCHKANCYTAFHVTCAQQAGLY
  MKMEPVRETGANGTSFSVRKTAYCDIHTPPGSARRLPALSHSEGEEDEDEEEDEGKGWSS
  EKVKKAKAKSRIKMKKARKILAEKRAAAPVVSVPCIPPHRLSKITNRLTIQRKSQFMQRL
  HSYWTLKRQSRNGVPLLRRLQTHLQSQRNCDQVGRDSEDKNWALKEQLKSWQRLRHDLER
  ARLLVELIRKREKLKRETIKVQQIAMEMQLTPFLILLRKTLEQLQEKDTGNIFSEPVPLS
  EVPDYLDHIKKPMDFFTMKQNLEAYRYLNFDDFEEDFNLIVSNCLKYNAKDTIFYRAAVR
  LREQGGAVLRQARRQAEKMGIDFETGMHIPHSLAGDEATHHTEDAAEEERLVLLENQKHL
  PVEEQLKLLLERLDEVNASKQSVGRSRRAKMIKKEMTALRRKLAHQRETGRDGPERHGPS
  SRGSLTPHPAACDKDGQTDSAAEESSSQETSKGLGPNMSSTPAHEVGRRTSVLFSKKNPK
  TAGPPKRPGRPPKNRESQMTPSHGGSPVGPPQLPIMSSLRQRKRGRSPRPSSSSDSDSDK
  STEDPPMDLPANGFSGGNQPVKKSFLVYRNDCSLPRSSSDSESSSSSSSSAASDRTSTTP
  SKQGRGKPSFSRGTFPEDSSEDTSGTENEAYSVGTGRGVGHSMVRKSLGRGAGWLSEDED
  SPLDALDLVWAKCRGYPSYPALIIDPKMPREGMFHHGVPIPVPPLEVLKLGEQMTQEARE
  HLYLVLFFDNKRTWQWLPRTKLVPLGVNQDLDKEKMLEGRKSNIRKSVQIAYHRALQHRS
  KVQGEQSSETSDSD

• Sequence length: 1214

Pathways

Reactome:

HATs acetylate histones
Regulation of TP53 Activity through Acetylation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
BRPF1-related disorder	Pathogenic; Likely pathogenic	rs2125500187, rs2471511294, rs2471497955, rs2471469955	RCV004746505 RCV003394451 RCV003393033 RCV003397781
Global developmental delay	Pathogenic	rs1575155995	RCV001526572
Intellectual developmental disorder with dysmorphic facies and ptosis	Likely pathogenic; Pathogenic	rs2125489641, rs1367505804, rs2125511510, rs2125501418, rs2125503212, rs2125515297, rs2125500625, rs2125500187, rs2125500524, rs2125507908, rs2125514693, rs2125500407, rs2125504267, rs2471501529, rs759029777, rs2471448650, rs2471514640, rs2471470951, rs886041090, rs2471502469, rs2471470926, rs2471481346, rs2471506555, rs2471496418, rs2471447986, rs2471447399, rs1057519509, rs1057519510, rs1057519511, rs1057519512, rs1057519513, rs1057519514, rs1057519515, rs1057519516, rs1057519517, rs1553697341, rs1553695017, rs1559662068, rs1559662077, rs1575155995, rs2076901423, rs2076997522, rs2077062359, rs2077101479, rs2076994968	RCV001374610 RCV001788504 RCV001784054 RCV001808301 RCV001808849 RCV001808959 RCV001844526 RCV003125979 RCV002249319 RCV002249320 RCV002249321 RCV002272688 RCV002274465 RCV005032217 RCV002472125 RCV003135872 RCV003148282 RCV003149151 RCV000417023 RCV003459022 RCV003493327 RCV003883358 RCV003883391 RCV003991373 RCV004555955 RCV004594902 RCV000416949 RCV000416994 RCV000417031 RCV000416968 RCV000416985 RCV000416973 RCV000417004 RCV000417029 RCV000416965 RCV000576662 RCV000677700 RCV000761594 RCV000767529 RCV000999467 RCV001251695 RCV001251694 RCV001251693 RCV001262817 RCV001264737
Intellectual disability	Pathogenic	rs886041090, rs2077100499	RCV000258899 RCV001249495
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2125507991, rs1057519511	RCV001780058 RCV000505254
See cases	Pathogenic; Likely pathogenic	rs2125508404, rs1057519513	RCV001420281 RCV005900714
Sudden unexplained death in childhood	Pathogenic	rs1575155995	RCV001788390

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autistic behavior	Uncertain significance	rs2077027454	RCV001787701
Developmental disorder	Uncertain significance	rs2471511096	RCV003127261
Neurodevelopmental delay	Uncertain significance	rs2077027454	RCV001787701
Uterine corpus endometrial carcinoma	Likely benign	rs752031512	RCV005930882

Associations from Text Mining
Disease Name	Relationship Type	References
Apraxias	Associate	38346666
Articulation Disorders	Associate	38346666
Blepharophimosis	Associate	27939639, 31020800
Carcinoma Hepatocellular	Associate	35822928, 38072045
Death Sudden	Associate	32652122
Dental Fissures	Associate	31020800
Facial Dysmorphism with Multiple Malformations	Associate	31020800, 38346666
Genetic Diseases Inborn	Associate	31020800
Immunologic Deficiency Syndromes	Associate	27939639
Intellectual Disability	Associate	27939639, 31020800, 33157260, 38346666
Language Disorders	Associate	38346666
Leukemia T Cell	Associate	35822928
Mental Retardation Autosomal Dominant 1	Associate	33157260
Microphthalmia Isolated with Coloboma 2	Associate	33418956
Microphthalmos	Associate	33418956
Muscle Hypotonia	Associate	31020800
Neoplasms	Associate	35822928, 38072045
Ptosis Hereditary Congenital 2	Associate	27939639, 31020800, 38346666
Thakker Donnai syndrome	Associate	31020800
Triple Negative Breast Neoplasms	Associate	40583060