Disease table of PETERS ANOMALY OMIM ID: 604229

Gene-disease associations table

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Gene	Associated with PETERS ANOMALY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
CYP1B1	OMIM	HGNC link	2p22.2	4	137760, 137750, 231300, 604229
FOXC1	HUMSAVAR	HGNC link	6p25.3	4	604229, 602482, 601631, 308500
PAX6	OMIM, HUMSAVAR	HGNC link	11p13	8	148190, 120200, 106210, 206700, 604229, 120430, PS136520, 165550
PITX2	OMIM	HGNC link	4q25	4	604229, 180550, 180500, 137600

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
PITX2	YES	9	LEF1, HESX1, ABCB1, SLC13A3, WNT2, LHX6, PRL, PLOD1, WNT5A	0
PAX6	YES	12	FABP7, PROX1, GCK, ITGB1, SIX3, MET, PCSK1, PDHX, ITGA5, MMP2, KRT12, GCG	0
FOXC1	YES	2	FGF19, FOXO1	0
SP1	NO	460	ITGB3, KRT14, CDK4, UGCG, PGR, GAST, PSIP1, ITGA5, PTHLH, ITGB2, CD44, HLA-G, LTF, IGFBP4, NF1, ACVRL1, GSTP1, CYP2F1, CA9, MMRN1, HSD17B2, STK11, FGFR3, CD28, UGT1A4, FASLG, DNASE2, KRT19, SLC39A1, ALOX5, PDGFB, PTGS2, CYP7A1, TNF, TPMT, HSD11B2, FMR1, CHI3L1, PCK1, DMRT1, RARA, RASSF1, CYP3A7, BRD7, CYP17A1, LPL, CXADR, PADI3, ABCA1, NR5A1, COL11A2, IRF5, XIAP, BACE1, STAR, TBX21, BSG, APP, MDM2, COMP, ALOX12, CHRNB4, SNAP25, MTA1, CCK, DDB2, CIC, ACAN, KIT, MAT2A, SERPINB5, CDH2, ICAM1, SLC29A1, USP7, SLC5A8, HTR1A, REST, IGF2, APOC3, APAF1, ABCG2, IFNGR1, CRMP1, SLC7A5, PDGFC, HNF4A, ATP2C1, MICA, EAPP, TNFRSF10B, KRT5, MACROD1, ERVW-1, CD151, ELF4, MMP28, POLD2, DNMT1, MAOB, CBS, E2F1, KCNQ3, COL18A1, HIST2H4A, RPS3A, IL10, C4A, CYP3A5, ST6GAL1, CD99, BCL2, SLC15A1, IL6, ADAM10, KRT16, POLE2, MUC6, CBFB, ACO1, DCK, CAV1, MIF, DNMT3A, HMGA2, PDIA2, B4GALT1, GJA1, PPL, SLC13A4, AGTR1, PTGIR, CETP, SLC2A2, CYP27A1, F2R, BLMH, ADIPOQ, CENPH, OPRM1, BAG2, MPO, WRN, CDK6, PTTG1, YY1, CD2AP, TBXA2R, TGM4, PRSS50, HSD17B11, HCN2, MYCN, F3, ID4, CDKN1A, SLC5A1, SERPINE1, C1QBP, SOX3, EGR1, TF, RETN, SYP, RORA, NDUFV1, C4B, SNAPC1, TGFBR2, MME, GATA3, DPYSL2, CXCL14, SPRY2, ABCB8, COX4I1, SCTR, UGDH, HBEGF, PLAT, FOS, XPC, MUC5AC, HYAL1, BRCA1, NOS1, KCTD11, HCN4, ASPN, OXTR, COL1A1, TLR2, ALOX15B, ITGAV, IL5, SLC9A2, SIRT1, FGL2, KLF8, KCNQ2, UGT2B15, FOXM1, TEC, CHST4, TINF2, SLC19A3, KIF2C, ADAM23, PTGES, DNMT3B, GCLC, THBD, GFER, ADRBK1, TGFB1, SLC25A20, TK1, PRM1, CXCL1, APOE, PDE6A, TICAM1, KCNH2, TERF2, CENPW, NFKB1, ITGA2, PCYT1A, SIGIRR, IRS2, SP3, GIPR, SCNN1B, PTN, PTEN, NDUFV2, INSR, AGT, ME1, ATP2A2, HAS2, CYP19A1, HTT, MAT2B, PRNP, MNDA, SLC9A3, ADAM17, BAX, SLC3A2, UTRN, SPN, PAX6, SMARCA1, IL2, CREM, MMP9, ENG, CHGA, MUC4, ESR1, AHR, ATM, NFKB2, COL7A1, CD97, EPO, TFPI2, POR, DRG2, ELMO3, CAT, CYP3A4, LOXL4, BDKRB1, WAS, PNOC, LDHC, ADH6, CDC42BPG, NKX2-1, CYP1B1, TAF7, PLAUR, MMP2, MMP11, APLNR, UBC, GM2A, FGFR1, PLAA, TIMP1, TNFSF14, PTK6, KISS1, CDKN2B, COL2A1, BTK, ITGAX, HBZ, CREB1, MMP14, MICB, LEP, FOLR1, ATP2A3, SNRPN, ADA, PSEN1, SPP1, TNNI3, NOL7, VEGFA, CSNK2A1, VAMP2, NQO2, LOR, EPOR, HSD3B1, ISG20, MET, F10, CD1D, FBLN1, APLP1, CCL5, FAS, ERBB2, COPS5, MYBL1, RECQL4, CD83, SOD1, HOXB7, WIF1, SLC39A8, CES1, IL5RA, APEX1, ITGAD, TNC, KDR, CLDN3, NR4A1, MYC, RELA, RECK, PGLYRP2, LRP5, MYBL2, ADRA2B, VIM, EGFR, GDA, SOD2, FES, LDHA, CD14, AMACR, IGFBP1, SLC19A1, IMPDH2, PDE6B, LCAT, PPP2R2B, FBN1, CERS2, EPAS1, KLK3, FLNA, CCL2, HMGA1, BACE2, EDNRB, FABP6, HPR, IGFBP3, PON1, APOA1, NPY, B4GALT5, FXR2, CCND2, STARD3, IL2RB, DDB1, SQSTM1, TERT, HGF, TNFSF10, KRT18, TYMP, MUC2, MPG, ABCC3, HDAC4, TCN2, TYMS, DBF4, CASP3, SGPL1, GH2, EGF, CCND1, GPR39, IVL, AR, NT5E, LYZ, SMPD1, PHGDH, CDKN2A, MGST1, CCNA2, POLD1, NOS3, ABCB1, DHCR24, LDLR, HSD17B1, SOCS1, FBP1, LTC4S, CTSL, BIRC5, HRAS, PDHA1, TIMP2, P4HA1, TMPO, ARF6, CDKN1B, SLC31A1, SOX9, PLAU, RGN, CTSB, EZR, TIMP3, F7, SREBF1, SKP2, SCT, VDR, ADRB3, CXCL5, LMO4, CD163, MCTS1, ATF2, CTGF, SRC, P2RX4, TGFA, IL3, CYP7B1, ADRA1A, GRIN1, SRY, ODC1	2	PAX6, CYP1B1

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regulated gene	associated to this disease	# TFs	TFs
PAX6	YES	7	SP1, CTCF, OTX2, SOX2, TFCP2, FOXA2, SIRT1
CYP1B1	YES	4	SP1, AHR, ARNT, ESR1
FOXC1	YES	3	BRCA1, GATA3, EZH2

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
PITX2	PAX6	No	1	SMAD3
PITX2	FOXC1	No	1	FOXC2
PAX6	FOXC1	No	1	SOX2

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
PITX2	FOXC1	Yes	expression, binding	1	SHH
PITX2	PAX6	No	-	9	SIX3, SALL1, EP300, POU3F4, PLP1, SMAD3, KAT5, NOG, SHH
PAX6	CYP1B1	No	-	1	MMP2
PAX6	FOXC1	No	-	1	SHH

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding (GO:0001227)	4.61	2	PAX6, PITX2
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0001077)	4.31	2	PAX6, PITX2
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding (GO:0001228)	3.98	3	PAX6, FOXC1, PITX2
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0000982)	3.94	2	PAX6, PITX2
RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	3.88	2	PAX6, PITX2
core promoter proximal region sequence-specific DNA binding (GO:0000987)	3.83	2	PAX6, PITX2
core promoter proximal region DNA binding (GO:0001159)	3.82	2	PAX6, PITX2
chromatin binding (GO:0003682)	3.64	2	PAX6, PITX2
transcription factor binding (GO:0008134)	3.46	3	PAX6, FOXC1, PITX2
RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	3.37	3	PAX6, FOXC1, PITX2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
DNA binding, bending (GO:0008301)	NEW	6.74	0.006	FOXC1, PITX2
chromatin DNA binding (GO:0031490)	NEW	5.37	0.036	PAX6, PITX2
RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)	NEW	5.28	0.019	PAX6, PITX2
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	NEW	5.23	0.002	PAX6, FOXC1, PITX2
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	-	4.31	0.034	PAX6, PITX2
G-protein coupled receptor binding (GO:0001664)	NEW	4.18	0.03	PAX6, CYP1B1, PITX2
RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	-	3.98	0.0	PAX6, FOXC1, PITX2
RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	-	3.88	0.034	PAX6, PITX2
core promoter proximal region sequence-specific DNA binding (GO:0000987)	-	3.83	0.038	PAX6, PITX2
core promoter proximal region DNA binding (GO:0001159)	-	3.82	0.039	PAX6, PITX2

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
lacrimal gland development (GO:0032808)	7.78	2	PAX6, FOXC1
iris morphogenesis (GO:0061072)	7.53	2	PAX6, PITX2
pituitary gland development (GO:0021983)	6.33	2	PAX6, PITX2
collagen fibril organization (GO:0030199)	6.07	2	FOXC1, CYP1B1
cardiac muscle tissue morphogenesis (GO:0055008)	5.8	2	FOXC1, PITX2
muscle tissue morphogenesis (GO:0060415)	5.62	2	FOXC1, PITX2
odontogenesis of dentin-containing tooth (GO:0042475)	5.52	2	FOXC1, PITX2
axis specification (GO:0009798)	5.42	2	PAX6, PITX2
camera-type eye development (GO:0043010)	5.36	3	PAX6, FOXC1, PITX2
blood vessel morphogenesis (GO:0048514)	5.32	3	CYP1B1, PITX2, FOXC1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
lacrimal gland development (GO:0032808)	-	7.78	0.003	PAX6, FOXC1
rhombomere development (GO:0021546)	NEW	7.78	0.005	PAX6, PITX2
paraxial mesoderm formation (GO:0048341)	NEW	7.78	0.001	FOXC1, PITX2
iris morphogenesis (GO:0061072)	-	7.53	0.003	PAX6, PITX2
male sex determination (GO:0030238)	NEW	7.16	0.014	PAX6, PITX2
digestive tract morphogenesis (GO:0048546)	NEW	6.78	0.047	PAX6, PITX2
ventricular septum morphogenesis (GO:0060412)	NEW	6.59	0.049	PAX6, PITX2
collagen fibril organization (GO:0030199)	-	6.07	0.016	FOXC1, CYP1B1
artery morphogenesis (GO:0048844)	NEW	5.88	0.003	PAX6, FOXC1, PITX2
segmentation (GO:0035282)	NEW	5.8	0.002	PAX6, FOXC1, PITX2

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
nuclear chromatin (GO:0000790)	4.42	2	PAX6, FOXC1
chromatin (GO:0000785)	3.99	2	PAX6, FOXC1
nuclear chromosome part (GO:0044454)	3.67	2	PAX6, FOXC1
chromosomal part (GO:0044427)	3.18	2	PAX6, FOXC1
nucleoplasm (GO:0005654)	1.89	2	PAX6, FOXC1
nuclear part (GO:0044428)	1.55	2	PAX6, FOXC1
macromolecular complex (GO:0032991)	1.35	3	PAX6, FOXC1, PITX2
nucleus (GO:0005634)	1.07	3	PAX6, FOXC1, PITX2
cytoplasm (GO:0005737)	1.01	3	PAX6, FOXC1, PITX2
intracellular organelle part (GO:0044446)	0.81	3	PAX6, FOXC1, CYP1B1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
clathrin-coated vesicle membrane (GO:0030665)	NEW	5.6	0.024	PAX6, PITX2
nuclear chromatin (GO:0000790)	-	4.42	0.014	PAX6, FOXC1, PITX2
chromatin (GO:0000785)	-	3.99	0.022	PAX6, FOXC1, PITX2
nuclear chromosome part (GO:0044454)	-	3.67	0.031	PAX6, FOXC1, PITX2

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