Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	SH3 domain binding	ARHGAP6 CD3E CBL CD2AP AFAP1L1 WIPF3	8.98e-07	143	46	6	GO:0017124
GeneOntologyMolecularFunction	protein domain specific binding	ROBO1 ARHGAP6 AFDN PDE2A CD3E CBL ZNF592 TJP1 CD2AP AFAP1L1 WIPF3	3.50e-06	875	46	11	GO:0019904
GeneOntologyMolecularFunction	histone H3K4 monomethyltransferase activity	SETD1A KMT2D	1.44e-04	8	46	2	GO:0140945
GeneOntologyMolecularFunction	beta-catenin binding	SETD1A BCL9 TJP1 CD2AP	1.67e-04	120	46	4	GO:0008013
GeneOntologyMolecularFunction	histone H3K4 trimethyltransferase activity	SETD1A KMT2D	2.31e-04	10	46	2	GO:0140999
GeneOntologyMolecularFunction	phosphatidylinositol 3-kinase regulatory subunit binding	CBL CD2AP	4.64e-04	14	46	2	GO:0036312
GeneOntologyMolecularFunction	histone H3K4 methyltransferase activity	SETD1A KMT2D	9.61e-04	20	46	2	GO:0042800
GeneOntologyMolecularFunction	cadherin binding	AFDN MMP24 CBL TJP1 CD2AP	1.06e-03	339	46	5	GO:0045296
GeneOntologyBiologicalProcess	cell-cell adhesion mediated by cadherin	AFDN MMP24 TJP1 CD2AP	4.62e-06	50	46	4	GO:0044331
GeneOntologyBiologicalProcess	aorta development	ROBO1 PDE2A LOXL1 TBX1	3.02e-05	80	46	4	GO:0035904
GeneOntologyBiologicalProcess	signal complex assembly	PTK2B CD3E	1.35e-04	8	46	2	GO:0007172
GeneOntologyBiologicalProcess	adherens junction maintenance	AFDN TJP1	1.73e-04	9	46	2	GO:0034334
GeneOntologyBiologicalProcess	stress fiber assembly	PTK2B ARHGAP6 TJP1 ZYX	1.83e-04	127	46	4	GO:0043149
GeneOntologyBiologicalProcess	contractile actin filament bundle assembly	PTK2B ARHGAP6 TJP1 ZYX	1.83e-04	127	46	4	GO:0030038
GeneOntologyBiologicalProcess	lymphocyte anergy	PHLPP1 CD3E	2.16e-04	10	46	2	GO:0002249
GeneOntologyBiologicalProcess	regulation of T cell anergy	PHLPP1 CD3E	2.16e-04	10	46	2	GO:0002667
GeneOntologyBiologicalProcess	T cell anergy	PHLPP1 CD3E	2.16e-04	10	46	2	GO:0002870
GeneOntologyBiologicalProcess	regulation of lymphocyte anergy	PHLPP1 CD3E	2.16e-04	10	46	2	GO:0002911
GeneOntologyBiologicalProcess	artery development	ROBO1 PDE2A LOXL1 TBX1	2.19e-04	133	46	4	GO:0060840
GeneOntologyBiologicalProcess	immune system development	PHLPP1 CD3E RC3H1 TBX1 CD2AP	2.21e-04	248	46	5	GO:0002520
GeneOntologyBiologicalProcess	positive regulation of cell-cell adhesion mediated by cadherin	AFDN TJP1	2.64e-04	11	46	2	GO:2000049
GeneOntologyBiologicalProcess	establishment of endothelial barrier	AFDN PDE2A TJP1	2.94e-04	58	46	3	GO:0061028
GeneOntologyBiologicalProcess	negative regulation of mesenchymal cell apoptotic process	GDF5 TBX1	3.74e-04	13	46	2	GO:2001054
GeneOntologyBiologicalProcess	positive regulation of intracellular signal transduction	PHLPP1 GDF5 PTK2B MAGI3 ROBO1 CD3E KMT2D CBL RC3H1 TBX1	4.80e-04	1299	46	10	GO:1902533
GeneOntologyBiologicalProcess	regulation of T cell tolerance induction	PHLPP1 CD3E	5.02e-04	15	46	2	GO:0002664
GeneOntologyCellularComponent	podosome	TJP1 CD2AP AFAP1L1	1.00e-04	41	46	3	GO:0002102
GeneOntologyCellularComponent	anchoring junction	PTK2B MAGI3 AFDN CD3E CBL TJP1 ZYX CD2AP AFAP1L1	2.35e-04	976	46	9	GO:0070161
GeneOntologyCellularComponent	MLL3/4 complex	KMT2D KDM6A	3.08e-04	12	46	2	GO:0044666
GeneOntologyCellularComponent	histone methyltransferase complex	SETD1A KMT2D KDM6A	6.03e-04	75	46	3	GO:0035097
HumanPheno	Scimitar anomaly	KMT2D MYRF KDM6A	1.23e-07	4	17	3	HP:0011626
HumanPheno	Interrupted aortic arch	KMT2D MYRF KDM6A TBX1	5.99e-07	22	17	4	HP:0011611
HumanPheno	Partial anomalous pulmonary venous return	KMT2D MYRF KDM6A	5.01e-06	11	17	3	HP:0010773
HumanPheno	Right ventricular hypertrophy	KMT2D MYRF KDM6A TBX1	1.16e-05	45	17	4	HP:0001667
HumanPheno	Reduced circulating growth hormone concentration	ROBO1 KMT2D KDM6A	1.37e-05	15	17	3	HP:0034323
HumanPheno	Hypoplastic left heart	KMT2D MYRF KDM6A TBX1	1.64e-05	49	17	4	HP:0004383
HumanPheno	Tetralogy of Fallot	ALX3 ROBO1 KMT2D MYRF KDM6A TBX1	1.88e-05	185	17	6	HP:0001636
HumanPheno	Second trimester onset	ROBO1 KMT2D MYRF KDM6A	1.93e-05	51	17	4	HP:0034198
HumanPheno	Congenital malformation of the left heart	KMT2D MYRF KDM6A TBX1	1.93e-05	51	17	4	HP:0045017
HumanPheno	Hypoplastic heart	KMT2D MYRF KDM6A TBX1	2.42e-05	54	17	4	HP:0001961
HumanPheno	Aplasia of the semicircular canal	KMT2D CBL KDM6A	2.44e-05	18	17	3	HP:0011381
HumanPheno	Median cleft palate	ALX3 CILK1 KMT2D KDM6A	2.80e-05	56	17	4	HP:0009099
HumanPheno	Median cleft upper lip	ALX3 CILK1 KMT2D KDM6A	2.80e-05	56	17	4	HP:0000161
HumanPheno	Median cleft lip and palate	ALX3 CILK1 KMT2D KDM6A	2.80e-05	56	17	4	HP:0008501
HumanPheno	Abnormal alveolar type II pneumocyte morphology	KMT2D KDM6A	3.14e-05	3	17	2	HP:0033245
HumanPheno	Decreased proportion of CD4-positive, alpha-beta memory T cells	KMT2D KDM6A	3.14e-05	3	17	2	HP:0410386
HumanPheno	Type II pneumocyte hyperplasia	KMT2D KDM6A	3.14e-05	3	17	2	HP:0033328
HumanPheno	Wide nose	GDF5 SETD1A KMT2D KDM6A TBX1	4.67e-05	129	17	5	HP:0000445
HumanPheno	Abnormal semicircular canal morphology	KMT2D CBL KDM6A	7.66e-05	26	17	3	HP:0011380
HumanPheno	Thick upper lip vermilion	CILK1 KMT2D KDM6A	9.61e-05	28	17	3	HP:0000215
HumanPheno	Depressed nasal tip	CILK1 KMT2D KDM6A	9.61e-05	28	17	3	HP:0000437
HumanPheno	Absent pubertal growth spurt	KMT2D KDM6A	1.04e-04	5	17	2	HP:0031087
HumanPheno	Branchial sinus	KMT2D KDM6A	1.04e-04	5	17	2	HP:0100272
HumanPheno	Short columella	ALX3 KMT2D KDM6A	1.07e-04	29	17	3	HP:0002000
HumanPheno	Intestinal malrotation	ROBO1 KMT2D MYRF KDM6A TBX1	1.20e-04	157	17	5	HP:0002566
HumanPheno	Complex cardiac malformations	ALX3 ROBO1 KMT2D MYRF KDM6A TBX1	1.20e-04	257	17	6	HP:0002565
HumanPheno	Overfolded helix	KMT2D CBL KDM6A TBX1	1.27e-04	82	17	4	HP:0000396
HumanPheno	Conotruncal defect	ALX3 ROBO1 KMT2D MYRF KDM6A TBX1	1.40e-04	264	17	6	HP:0001710
HumanPheno	Eversion of lateral third of lower eyelids	KMT2D KDM6A	1.56e-04	6	17	2	HP:0007655
HumanPheno	Bilateral renal hypoplasia	KMT2D KDM6A	1.56e-04	6	17	2	HP:0012584
HumanPheno	Abnormal morphology of the vestibule of the inner ear	KMT2D CBL KDM6A	1.58e-04	33	17	3	HP:0011376
HumanPheno	Abnormally folded helix	KMT2D CBL KDM6A TBX1	1.82e-04	90	17	4	HP:0008544
HumanPheno	Abnormal right ventricle morphology	KMT2D MYRF KDM6A TBX1	1.90e-04	91	17	4	HP:0001707
HumanPheno	Abnormal ventriculoarterial connection	ALX3 ROBO1 KMT2D MYRF KDM6A TBX1	1.93e-04	280	17	6	HP:0011563
HumanPheno	Hydrocele testis	SETD1A KMT2D TBX1	2.06e-04	36	17	3	HP:0000034
HumanPheno	Abnormal connection of the cardiac segments	ALX3 ROBO1 KMT2D MYRF KDM6A TBX1	2.09e-04	284	17	6	HP:0011545
HumanPheno	Decreased proportion of memory T cells	KMT2D KDM6A	2.18e-04	7	17	2	HP:0032183
HumanPheno	Natal tooth	CILK1 KMT2D KDM6A	2.42e-04	38	17	3	HP:0000695
HumanPheno	Unilateral renal agenesis	ROBO1 KMT2D KDM6A TBX1	2.84e-04	101	17	4	HP:0000122
HumanPheno	Abnormal pulmonary alveolar system morphology	KMT2D KDM6A	2.90e-04	8	17	2	HP:0033137
HumanPheno	Anoperineal fistula	KMT2D KDM6A	2.90e-04	8	17	2	HP:0005218
HumanPheno	Radial deviation of finger	ALX3 GDF5 CILK1 KMT2D CBL KDM6A TBX1	3.46e-04	448	17	7	HP:0009466
HumanPheno	Anal fistula	KMT2D KDM6A	3.72e-04	9	17	2	HP:0010447
HumanPheno	Alobar holoprosencephaly	KMT2D KDM6A	3.72e-04	9	17	2	HP:0006988
HumanPheno	Pilomatrixoma	KMT2D KDM6A	3.72e-04	9	17	2	HP:0030434
HumanPheno	Abnormal proportion of memory T cells	KMT2D KDM6A	3.72e-04	9	17	2	HP:0032182
HumanPheno	Abnormal aortic arch morphology	KMT2D MYRF KDM6A TBX1	3.81e-04	109	17	4	HP:0012303
HumanPheno	Radial deviation of the hand or of fingers of the hand	ALX3 GDF5 CILK1 KMT2D CBL KDM6A TBX1	3.86e-04	456	17	7	HP:0009485
HumanPheno	Advanced eruption of teeth	CILK1 KMT2D KDM6A	4.29e-04	46	17	3	HP:0006288
HumanPheno	Decreased circulating IgG2 concentration	KMT2D KDM6A	4.64e-04	10	17	2	HP:0008348
HumanPheno	Bronchiolitis	KMT2D KDM6A	4.64e-04	10	17	2	HP:0011950
HumanPheno	Hypoparathyroidism	KMT2D KDM6A TBX1	5.49e-04	50	17	3	HP:0000829
HumanPheno	Absent nipple	KMT2D KDM6A	5.67e-04	11	17	2	HP:0002561
HumanPheno	Decreased circulating total IgG concentration	KMT2D KDM6A	5.67e-04	11	17	2	HP:0032132
HumanPheno	Choanal atresia	KMT2D PTPN14 KDM6A TBX1	6.04e-04	123	17	4	HP:0000453
HumanPheno	Abnormal atrioventricular valve morphology	ROBO1 KMT2D CBL MYRF KDM6A TBX1	6.51e-04	350	17	6	HP:0006705
HumanPheno	Neoplasm of the middle ear	KMT2D KDM6A	6.78e-04	12	17	2	HP:0100799
HumanPheno	Phimosis	KMT2D KDM6A	6.78e-04	12	17	2	HP:0001741
HumanPheno	Cholesteatoma	KMT2D KDM6A	6.78e-04	12	17	2	HP:0009797
HumanPheno	Brachydactyly	ALX3 GDF5 CILK1 ROBO1 KMT2D CBL KDM6A TBX1	6.99e-04	670	17	8	HP:0001156
HumanPheno	Short digit	ALX3 GDF5 CILK1 ROBO1 KMT2D CBL KDM6A TBX1	7.14e-04	672	17	8	HP:0011927
HumanPheno	Abnormality of the amniotic fluid	CILK1 ROBO1 SETD1A KMT2D CBL KDM6A TBX1	7.15e-04	504	17	7	HP:0001560
HumanPheno	Hypoplasia of the middle phalanges of the hand	GDF5 KMT2D KDM6A	7.28e-04	55	17	3	HP:0010240
HumanPheno	Short middle phalanx of finger	GDF5 KMT2D KDM6A	7.28e-04	55	17	3	HP:0005819
HumanPheno	Abnormal periauricular region morphology	ALX3 KMT2D KDM6A TBX1	7.67e-04	131	17	4	HP:0000383
HumanPheno	Marcus Gunn jaw winking synkinesis	KMT2D KDM6A	8.00e-04	13	17	2	HP:0025186
HumanPheno	Single ventricle	KMT2D KDM6A	8.00e-04	13	17	2	HP:0001750
HumanPheno	Decreased circulating IgG subclass concentration	KMT2D KDM6A	8.00e-04	13	17	2	HP:0032135
HumanPheno	Lip pit	KMT2D KDM6A	8.00e-04	13	17	2	HP:0100267
HumanPheno	Choanal atresia or stenosis	KMT2D PTPN14 KDM6A TBX1	8.35e-04	134	17	4	HP:0000416
HumanPheno	Abnormal choanae morphology	KMT2D PTPN14 KDM6A TBX1	8.35e-04	134	17	4	HP:0000415
HumanPheno	Patent foramen ovale	ROBO1 SETD1A KMT2D KDM6A	8.59e-04	135	17	4	HP:0001655
HumanPheno	Conductive hearing impairment	ALX3 GDF5 ROBO1 KMT2D KDM6A TBX1	9.15e-04	373	17	6	HP:0000405
HumanPheno	Crossed fused renal ectopia	KMT2D KDM6A	9.32e-04	14	17	2	HP:0004736
HumanPheno	Perineal fistula	KMT2D KDM6A	9.32e-04	14	17	2	HP:0004871
HumanPheno	Congenital malformation of the great arteries	ALX3 ROBO1 KMT2D CBL MYRF KDM6A TBX1	9.60e-04	529	17	7	HP:0011603
HumanPheno	Preauricular pit	KMT2D KDM6A TBX1	9.86e-04	61	17	3	HP:0004467
HumanPheno	Aplasia/Hypoplasia of the middle phalanges of the hand	GDF5 KMT2D KDM6A	1.03e-03	62	17	3	HP:0009843
HumanPheno	Deviation of finger	ALX3 GDF5 CILK1 KMT2D CBL KDM6A TBX1	1.05e-03	537	17	7	HP:0004097
HumanPheno	Antenatal onset	CILK1 ROBO1 KMT2D MYRF KDM6A	1.08e-03	252	17	5	HP:0030674
HumanPheno	Functional abnormality of the middle ear	ALX3 GDF5 ROBO1 KMT2D KDM6A TBX1	1.10e-03	386	17	6	HP:0011452
HumanPheno	Atrial septal defect	ROBO1 SETD1A KMT2D CBL MYRF KDM6A TBX1	1.10e-03	541	17	7	HP:0001631
HumanPheno	Abnormality of the atrial septum	ROBO1 SETD1A KMT2D CBL MYRF KDM6A TBX1	1.10e-03	541	17	7	HP:0001630
HumanPheno	Abnormal T cell morphology	CD3E KMT2D KDM6A TBX1	1.12e-03	145	17	4	HP:0002843
HumanPheno	Short 5th finger	GDF5 KMT2D KDM6A	1.13e-03	64	17	3	HP:0009237
HumanPheno	Abnormal atrial septum morphology	ROBO1 SETD1A KMT2D CBL MYRF KDM6A TBX1	1.14e-03	544	17	7	HP:0011994
HumanPheno	Postaxial polydactyly	ALX3 GDF5 CILK1 TBX1	1.21e-03	148	17	4	HP:0100259
HumanPheno	Subpleural honeycombing	KMT2D KDM6A	1.22e-03	16	17	2	HP:0031631
HumanPheno	Ankyloblepharon	CILK1 RAX	1.22e-03	16	17	2	HP:0009755
HumanPheno	Aplasia/Hypoplasia of the 5th finger	GDF5 KMT2D KDM6A	1.24e-03	66	17	3	HP:0006262
HumanPheno	Coarctation of aorta	KMT2D CBL KDM6A TBX1	1.27e-03	150	17	4	HP:0001680
HumanPheno	Periauricular skin pits	KMT2D KDM6A TBX1	1.30e-03	67	17	3	HP:0100277
HumanPheno	Joint hypermobility	GDF5 CILK1 SETD1A KMT2D CBL KDM6A TBX1	1.31e-03	557	17	7	HP:0001382
HumanPheno	Anteriorly placed anus	ROBO1 KMT2D KDM6A	1.35e-03	68	17	3	HP:0001545
HumanPheno	Recurrent acute respiratory tract infection	KMT2D KDM6A	1.38e-03	17	17	2	HP:0011948
HumanPheno	Abnormal subpleural morphology	KMT2D KDM6A	1.38e-03	17	17	2	HP:0031630
HumanPheno	Premature thelarche	KMT2D KDM6A	1.38e-03	17	17	2	HP:0010314
HumanPheno	Prominent eyelashes	KMT2D KDM6A	1.38e-03	17	17	2	HP:0011231
HumanPheno	Deviation of the hand or of fingers of the hand	ALX3 GDF5 CILK1 KMT2D CBL KDM6A TBX1	1.41e-03	564	17	7	HP:0009484
HumanPheno	Prominent lips	CILK1 KMT2D CBL KDM6A	1.47e-03	156	17	4	HP:0000184
MousePheno	short neck	CILK1 TBX1	8.39e-06	2	41	2	MP:0012721
Domain	Post-SET_dom	SETD1A KMT2D	6.97e-04	16	46	2	IPR003616
Domain	PostSET	SETD1A KMT2D	6.97e-04	16	46	2	SM00508
Domain	POST_SET	SETD1A KMT2D	6.97e-04	16	46	2	PS50868
Domain	SH3_2	TJP1 SH3D19 CD2AP	1.24e-03	86	46	3	IPR011511
Domain	SH3_2	TJP1 SH3D19 CD2AP	1.24e-03	86	46	3	PF07653
Domain	GUANYLATE_KINASE_2	MAGI3 TJP1	1.45e-03	23	46	2	PS50052
Domain	GUANYLATE_KINASE_1	MAGI3 TJP1	1.45e-03	23	46	2	PS00856
Domain	Guanylate_kin	MAGI3 TJP1	1.86e-03	26	46	2	PF00625
Domain	GK/Ca_channel_bsu	MAGI3 TJP1	1.86e-03	26	46	2	IPR008145
Domain	Guanylate_kin-like_dom	MAGI3 TJP1	1.86e-03	26	46	2	IPR008144
Domain	GuKc	MAGI3 TJP1	1.86e-03	26	46	2	SM00072
Domain	SET	SETD1A KMT2D	4.58e-03	41	46	2	PF00856
Domain	PDZ	MAGI3 AFDN TJP1	5.04e-03	141	46	3	PF00595
Domain	SET	SETD1A KMT2D	5.73e-03	46	46	2	SM00317
Domain	FERM_M	PTK2B PTPN14	5.73e-03	46	46	2	PF00373
Domain	PDZ	MAGI3 AFDN TJP1	5.77e-03	148	46	3	SM00228
Domain	-	MAGI3 AFDN TJP1	5.99e-03	150	46	3	2.30.42.10
Domain	PDZ	MAGI3 AFDN TJP1	6.10e-03	151	46	3	PS50106
Domain	PDZ	MAGI3 AFDN TJP1	6.21e-03	152	46	3	IPR001478
Domain	-	PTK2B PTPN14	6.48e-03	49	46	2	1.20.80.10
Domain	FERM_central	PTK2B PTPN14	6.48e-03	49	46	2	IPR019748
Domain	FERM_domain	PTK2B PTPN14	6.48e-03	49	46	2	IPR000299
Domain	SET_dom	SETD1A KMT2D	6.74e-03	50	46	2	IPR001214
Domain	FERM_1	PTK2B PTPN14	6.74e-03	50	46	2	PS00660
Domain	FERM_2	PTK2B PTPN14	6.74e-03	50	46	2	PS00661
Domain	SET	SETD1A KMT2D	6.74e-03	50	46	2	PS50280
Domain	FERM_3	PTK2B PTPN14	6.74e-03	50	46	2	PS50057
Domain	Band_41_domain	PTK2B PTPN14	6.74e-03	50	46	2	IPR019749
Domain	B41	PTK2B PTPN14	6.74e-03	50	46	2	SM00295
Domain	FERM/acyl-CoA-bd_prot_3-hlx	PTK2B PTPN14	6.74e-03	50	46	2	IPR014352
Domain	p53-like_TF_DNA-bd	MYRF TBX1	7.55e-03	53	46	2	IPR008967
Pathway	WP_1Q211_COPY_NUMBER_VARIATION_SYNDROME	AFDN BCL9 TJP1	3.38e-05	29	31	3	M39890
Pathway	REACTOME_FORMATION_OF_WDR5_CONTAINING_HISTONE_MODIFYING_COMPLEXES	SETD1A KMT2D KDM6A	7.71e-05	38	31	3	MM17073
Pathway	REACTOME_ELASTIC_FIBRE_FORMATION	EMILIN2 GDF5 LOXL1	8.34e-05	39	31	3	MM14601
Pathway	REACTOME_FORMATION_OF_WDR5_CONTAINING_HISTONE_MODIFYING_COMPLEXES	SETD1A KMT2D KDM6A	1.04e-04	42	31	3	M48018
Pathway	REACTOME_ELASTIC_FIBRE_FORMATION	EMILIN2 GDF5 LOXL1	1.20e-04	44	31	3	M26969
Pubmed	SRCAP complex promotes lung cancer progression by reprograming the oncogenic transcription of Hippo-YAP/TAZ signaling pathway.	SETD1A AFDN KMT2D PTPN14 CBL TJP1 KDM6A ZYX SH3D19 CD2AP	2.17e-09	549	46	10	38280479
Pubmed	Recruitment of Pyk2 and Cbl to lipid rafts mediates signals important for actin reorganization in growing neurites.	PTK2B CBL CD2AP	7.55e-08	7	46	3	15128873
Pubmed	E-cadherin interactome complexity and robustness resolved by quantitative proteomics.	LRATD2 MAGI3 AFDN CBL TJP1 ZYX SH3D19 CD2AP	7.00e-07	565	46	8	25468996
Pubmed	H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation.	SETD1A KMT2D KDM6A	1.20e-06	16	46	3	24368734
Pubmed	A central chaperone-like role for 14-3-3 proteins in human cells.	PTK2B MAGI3 AFDN PTPN14 CBL TJP1 ZYX SH3D19 CD2AP	1.62e-06	861	46	9	36931259
Pubmed	Kabuki Syndrome	KMT2D KDM6A	1.71e-06	2	46	2	21882399
Pubmed	Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.	KMT2D KDM6A	1.71e-06	2	46	2	30556359
Pubmed	Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.	KMT2D KDM6A	1.71e-06	2	46	2	24739679
Pubmed	MLL2 and KDM6A mutations in patients with Kabuki syndrome.	KMT2D KDM6A	1.71e-06	2	46	2	23913813
Pubmed	Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.	KMT2D KDM6A	1.71e-06	2	46	2	31935506
Pubmed	Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.	KMT2D KDM6A	1.71e-06	2	46	2	32803813
Pubmed	Solution structure of the second SH3 domain of human CMS and a newly identified binding site at the C-terminus of c-Cbl.	CBL CD2AP	1.71e-06	2	46	2	17188587
Pubmed	Prenatal and perinatal history in Kabuki Syndrome.	KMT2D KDM6A	1.71e-06	2	46	2	31654559
Pubmed	The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.	KMT2D KDM6A	1.71e-06	2	46	2	31883305
Pubmed	SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder.	KMT2D KDM6A	1.71e-06	2	46	2	37800171
Pubmed	Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma.	KMT2D KDM6A	1.71e-06	2	46	2	23184418
Pubmed	Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.	KMT2D KDM6A	1.71e-06	2	46	2	25972376
Pubmed	Prenatal Phenotype of Kabuki Syndrome: Seven Case Series.	KMT2D KDM6A	1.71e-06	2	46	2	36436503
Pubmed	Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.	KMT2D KDM6A	1.71e-06	2	46	2	33314698
Pubmed	The adapter type protein CMS/CD2AP binds to the proto-oncogenic protein c-Cbl through a tyrosine phosphorylation-regulated Src homology 3 domain interaction.	CBL CD2AP	1.71e-06	2	46	2	11067845
Pubmed	Kabuki syndrome: clinical and molecular diagnosis in the first year of life.	KMT2D KDM6A	1.71e-06	2	46	2	25281733
Pubmed	Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.	KMT2D KDM6A	1.71e-06	2	46	2	26898171
Pubmed	Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.	KMT2D KDM6A	1.71e-06	2	46	2	26841933
Pubmed	Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.	KMT2D KDM6A	1.71e-06	2	46	2	29907798
Pubmed	Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.	KMT2D KDM6A	1.71e-06	2	46	2	26049589
Pubmed	Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.	KMT2D KDM6A	1.71e-06	2	46	2	22840376
Pubmed	Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.	KMT2D KDM6A	1.71e-06	2	46	2	27302555
Pubmed	PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.	SETD1A KMT2D KDM6A	1.74e-06	18	46	3	17500065
Pubmed	Resetting the epigenetic balance of Polycomb and COMPASS function at enhancers for cancer therapy.	SETD1A KMT2D KDM6A	2.43e-06	20	46	3	29785026
Pubmed	Structural basis for activity regulation of MLL family methyltransferases.	SETD1A KMT2D KDM6A	3.28e-06	22	46	3	26886794
Pubmed	New insights into cadherin function in epidermal sheet formation and maintenance of tissue integrity.	AFDN CD3E TJP1	3.76e-06	23	46	3	18809908
Pubmed	Identification of the SOX2 Interactome by BioID Reveals EP300 as a Mediator of SOX2-dependent Squamous Differentiation and Lung Squamous Cell Carcinoma Growth.	KMT2D GSE1 BCL9 KDM6A	4.56e-06	83	46	4	28794006
Pubmed	Mutually exclusive mutation profiles define functionally related genes in muscle invasive bladder cancer.	KMT2D KDM6A	5.13e-06	3	46	2	35073341
Pubmed	In vivo interaction of AF-6 with activated Ras and ZO-1.	AFDN TJP1	5.13e-06	3	46	2	10334923
Pubmed	Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation.	KMT2D KDM6A	5.13e-06	3	46	2	34463256
Pubmed	Altered thymic positive selection and intracellular signals in Cbl-deficient mice.	CD3E CBL	5.13e-06	3	46	2	9861006
Pubmed	The KDM6A-KMT2D-p300 axis regulates susceptibility to diverse coronaviruses by mediating viral receptor expression.	KMT2D KDM6A	5.13e-06	3	46	2	37410700
Pubmed	The c-Cbl/CD2AP complex regulates VEGF-induced endocytosis and degradation of Flt-1 (VEGFR-1).	CBL CD2AP	5.13e-06	3	46	2	15001553
Pubmed	Afadin controls p120-catenin-ZO-1 interactions leading to endothelial barrier enhancement by oxidized phospholipids.	AFDN TJP1	5.13e-06	3	46	2	21732359
Pubmed	CD2AP/CMS regulates endosome morphology and traffic to the degradative pathway through its interaction with Rab4 and c-Cbl.	CBL CD2AP	5.13e-06	3	46	2	12559036
Pubmed	A UTX-MLL4-p300 Transcriptional Regulatory Network Coordinately Shapes Active Enhancer Landscapes for Eliciting Transcription.	KMT2D KDM6A	5.13e-06	3	46	2	28732206
Pubmed	Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease.	MAGI3 ROBO1 AFDN PDE2A ZNF592 TJP1 KDM6A SH3D19 CUEDC1 ZBTB4	5.55e-06	1285	46	10	35914814
Pubmed	Interaction network of human early embryonic transcription factors.	SETD1A SCAMP3 KMT2D GSE1 BCL9 KDM6A	6.75e-06	351	46	6	38297188
Pubmed	Profiling of tyrosine phosphorylation pathways in human cells using mass spectrometry.	PTK2B CD3E CBL	8.57e-06	30	46	3	12522270
Pubmed	Identification and characterization of a novel human PP1 phosphatase complex.	SETD1A KMT2D KDM6A	9.48e-06	31	46	3	20516061
Pubmed	Early glomerular filtration defect and severe renal disease in podocin-deficient mice.	TJP1 CD2AP	1.03e-05	4	46	2	14701729
Pubmed	Junctional adhesion molecule interacts with the PDZ domain-containing proteins AF-6 and ZO-1.	AFDN TJP1	1.03e-05	4	46	2	10856295
Pubmed	Cbl associates with Pyk2 and Src to regulate Src kinase activity, alpha(v)beta(3) integrin-mediated signaling, cell adhesion, and osteoclast motility.	PTK2B CBL	1.03e-05	4	46	2	11149930
Pubmed	Mesothelium of the murine allantois exhibits distinct regional properties.	AFDN TJP1	1.03e-05	4	46	2	21284019
Pubmed	Hepatitis C virus NS5A protein blocks epidermal growth factor receptor degradation via a proline motif- dependent interaction.	CBL CD2AP	1.03e-05	4	46	2	25872741
Pubmed	Beyond conventional chemotherapy: Emerging molecular targeted and immunotherapy strategies in urothelial carcinoma.	KMT2D KDM6A	1.03e-05	4	46	2	26138514
Pubmed	Activation of phosphatidylinositol 3-kinase β by the platelet collagen receptors integrin α2β1 and GPVI: The role of Pyk2 and c-Cbl.	PTK2B CBL	1.03e-05	4	46	2	25960397
Pubmed	CD2-Associated Protein Contributes to Hepatitis C, Virus Propagation and Steatosis by Disrupting Insulin Signaling.	CBL CD2AP	1.03e-05	4	46	2	29729186
Pubmed	Src kinase activity is essential for osteoclast function.	PTK2B CBL	1.03e-05	4	46	2	14739300
Pubmed	Cingulin contains globular and coiled-coil domains and interacts with ZO-1, ZO-2, ZO-3, and myosin.	AFDN TJP1	1.03e-05	4	46	2	10613913
Pubmed	Selected reaction monitoring mass spectrometry reveals the dynamics of signaling through the GRB2 adaptor.	AFDN CBL CD2AP WIPF3	1.08e-05	103	46	4	21706016
Pubmed	Functional proteomics mapping of a human signaling pathway.	CILK1 AFDN KMT2D ZNF592 KDM6A ZYX CUEDC1	1.19e-05	591	46	7	15231748
Pubmed	Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance.	AFDN CBL TJP1 ZYX CD2AP	1.22e-05	226	46	5	31452512
Pubmed	Atypical polyproline recognition by the CMS N-terminal Src homology 3 domain.	CBL CD2AP	1.71e-05	5	46	2	17020880
Pubmed	CD2BP3, CIN85 and the structurally related adaptor protein CMS bind to the same CD2 cytoplasmic segment, but elicit divergent functional activities.	CBL CD2AP	1.71e-05	5	46	2	12618476
Pubmed	FAM deubiquitylating enzyme is essential for preimplantation mouse embryo development.	AFDN TJP1	1.71e-05	5	46	2	11731229
Pubmed	Dissecting KMT2D missense mutations in Kabuki syndrome patients.	KMT2D KDM6A	1.71e-05	5	46	2	30107592
Pubmed	Adaptor protein complex of FRS2β and CIN85/CD2AP provides a novel mechanism for ErbB2/HER2 protein downregulation.	CBL CD2AP	1.71e-05	5	46	2	23279575
Pubmed	UTX and MLL4 coordinately regulate transcriptional programs for cell proliferation and invasiveness in breast cancer cells.	KMT2D KDM6A	1.71e-05	5	46	2	24491801
Pubmed	Inhibition of CIN85-mediated invasion by a novel SH3 domain binding motif in the lysyl oxidase propeptide.	CBL CD2AP	1.71e-05	5	46	2	24167568
Pubmed	Interactions of Severe Acute Respiratory Syndrome Coronavirus 2 Protein E With Cell Junctions and Polarity PSD-95/Dlg/ZO-1-Containing Proteins.	AFDN TJP1	1.71e-05	5	46	2	35283834
Pubmed	Quantitative dissection and stoichiometry determination of the human SET1/MLL histone methyltransferase complexes.	SETD1A KMT2D KDM6A CD2AP	1.90e-05	119	46	4	23508102
Pubmed	Afadin: A key molecule essential for structural organization of cell-cell junctions of polarized epithelia during embryogenesis.	AFDN TJP1	2.56e-05	6	46	2	10477764
Pubmed	Absence of the tight junctional protein AF-6 disrupts epithelial cell-cell junctions and cell polarity during mouse development.	AFDN TJP1	2.56e-05	6	46	2	10469590
Pubmed	Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome.	TJP1 TBX1	2.56e-05	6	46	2	25410658
Pubmed	CD2AP/SHIP1 complex positively regulates plasmacytoid dendritic cell receptor signaling by inhibiting the E3 ubiquitin ligase Cbl.	CBL CD2AP	2.56e-05	6	46	2	22706086
Pubmed	p85beta phosphoinositide 3-kinase regulates CD28 coreceptor function.	CD3E CBL	2.56e-05	6	46	2	19190244
Pubmed	Characterization and significance of adhesion and junction-related proteins in mouse ovarian follicles.	AFDN TJP1	2.56e-05	6	46	2	22321830
Pubmed	GRWD1-WDR5-MLL2 Epigenetic Complex Mediates H3K4me3 Mark and Is Essential for Kaposi's Sarcoma-Associated Herpesvirus-Induced Cellular Transformation.	SETD1A KMT2D	2.56e-05	6	46	2	34933446
Pubmed	E3 ligase-inactivation rewires CBL interactome to elicit oncogenesis by hijacking RTK-CBL-CIN85 axis.	CBL CD2AP	2.56e-05	6	46	2	33627783
Pubmed	The cell adhesion gene PVRL3 is associated with congenital ocular defects.	AFDN TJP1	2.56e-05	6	46	2	21769484
Pubmed	Podocyte-Specific Deletion of Murine CXADR Does Not Impair Podocyte Development, Function or Stress Response.	TJP1 CD2AP	2.56e-05	6	46	2	26076477
Pubmed	Afadin orients cell division to position the tubule lumen in developing renal tubules.	AFDN TJP1	2.56e-05	6	46	2	28860115
Pubmed	Expression patterns of nectins and afadin during epithelial remodeling in the mouse embryo.	AFDN TJP1	2.56e-05	6	46	2	15108322
Pubmed	Congenital Diaphragmatic Hernia Overview	KMT2D MYRF KDM6A	3.16e-05	46	46	3	20301533
Pubmed	The protein tyrosine phosphatase Pez is a major phosphatase of adherens junctions and dephosphorylates beta-catenin.	PTPN14 TJP1	3.58e-05	7	46	2	12808048
Pubmed	Co-recruitment analysis of the CBL and CBLB signalosomes in primary T cells identifies CD5 as a key regulator of TCR-induced ubiquitylation.	CBL CD2AP	3.58e-05	7	46	2	27474268
Pubmed	Epigenetic-focused CRISPR/Cas9 screen identifies (absent, small, or homeotic)2-like protein (ASH2L) as a regulator of glioblastoma cell survival.	SETD1A KMT2D KDM6A	4.06e-05	50	46	3	37974198
Pubmed	A High-Density Map for Navigating the Human Polycomb Complexome.	PWWP2A SETD1A KMT2D SOWAHA GSE1 KDM6A	4.66e-05	495	46	6	27705803
Pubmed	Association of ASIP/mPAR-3 with adherens junctions of mouse neuroepithelial cells.	AFDN TJP1	4.77e-05	8	46	2	12203721
Pubmed	Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.	KMT2D KDM6A	4.77e-05	8	46	2	17178841
Pubmed	The mutational landscape of lethal castration-resistant prostate cancer.	KMT2D KDM6A	4.77e-05	8	46	2	22722839
Pubmed	Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.	SETD1A KMT2D	4.77e-05	8	46	2	23130995
Pubmed	The plasticity of WDR5 peptide-binding cleft enables the binding of the SET1 family of histone methyltransferases.	SETD1A KMT2D	4.77e-05	8	46	2	22266653
Pubmed	Arg/Abl-binding protein, a Z-body and Z-band protein, binds sarcomeric, costameric, and signaling molecules.	PTK2B CBL	4.77e-05	8	46	2	20886612
Pubmed	Nectins localize Willin to cell-cell junctions.	AFDN TJP1	4.77e-05	8	46	2	22512338
Pubmed	New nomenclature for chromatin-modifying enzymes.	SETD1A KMT2D KDM6A	6.03e-05	57	46	3	18022353
Pubmed	Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.	KMT2D TBX1	6.12e-05	9	46	2	35296311
Pubmed	Protein interaction screening by quantitative immunoprecipitation combined with knockdown (QUICK).	CBL CD2AP	6.12e-05	9	46	2	17072306
Pubmed	Direct binding of cell polarity protein PAR-3 to cell-cell adhesion molecule nectin at neuroepithelial cells of developing mouse.	AFDN TJP1	6.12e-05	9	46	2	12515806
Pubmed	The E3 ubiquitin ligases RNF126 and Rabring7 regulate endosomal sorting of the epidermal growth factor receptor.	SCAMP3 CBL	6.12e-05	9	46	2	23418353
Pubmed	Structural basis for WDR5 interaction (Win) motif recognition in human SET1 family histone methyltransferases.	SETD1A KMT2D	6.12e-05	9	46	2	22665483
Pubmed	Epithelial junction formation requires confinement of Cdc42 activity by a novel SH3BP1 complex.	AFDN CD2AP	6.12e-05	9	46	2	22891260
Pubmed	Physical Interactions and Functional Coordination between the Core Subunits of Set1/Mll Complexes and the Reprogramming Factors.	SETD1A KMT2D	6.12e-05	9	46	2	26691508
Pubmed	Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators.	PHLPP1 ROBO1 KMT2D PTPN14 GSE1 TJP1 KDM6A ZYX	6.29e-05	1049	46	8	27880917
Interaction	WWTR1 interactions	AFDN KMT2D PTPN14 CBL TJP1 KDM6A ZYX SH3D19 CD2AP	3.94e-07	422	46	9	int:WWTR1
Interaction	TJP2 interactions	AFDN CBL TJP1 EFHD1 ZYX SH3D19 CD2AP	3.76e-06	288	46	7	int:TJP2
Interaction	CDH1 interactions	LRATD2 PHLPP1 MAGI3 AFDN PTPN14 CBL TJP1 ZYX SH3D19 CD2AP	7.15e-06	768	46	10	int:CDH1
Interaction	IRF8 interactions	KMT2D BCL9 CBL KDM6A	9.21e-06	58	46	4	int:IRF8
Interaction	GCM1 interactions	KMT2D GSE1 BCL9 KDM6A	1.74e-05	68	46	4	int:GCM1
Interaction	YAP1 interactions	SETD1A AFDN SCAMP3 KMT2D PTPN14 TJP1 KDM6A ZYX SH3D19 CD2AP CUEDC1	2.67e-05	1095	46	11	int:YAP1
Interaction	NCK2 interactions	AFDN CD3E CBL CUEDC1 ZC2HC1B WIPF3	2.76e-05	262	46	6	int:NCK2
Interaction	PAX2 interactions	KMT2D GSE1 BCL9 KDM6A	4.20e-05	85	46	4	int:PAX2
Interaction	PTPN14 interactions	MAGI3 AFDN PTPN14 TJP1 ZYX	5.06e-05	177	46	5	int:PTPN14
Interaction	FOXI1 interactions	KMT2D GSE1 BCL9 KDM6A	5.73e-05	92	46	4	int:FOXI1
Interaction	ALG13 interactions	KMT2D GSE1 BCL9 ZYX RC3H1	5.92e-05	183	46	5	int:ALG13
Interaction	TJP1 interactions	PHLPP1 AFDN PTPN14 TJP1 ZYX SH3D19	9.14e-05	325	46	6	int:TJP1
Interaction	FEV interactions	SETD1A KMT2D GSE1 BCL9 KDM6A	9.67e-05	203	46	5	int:FEV
Interaction	ZYX interactions	PTPN14 CBL TJP1 ZYX SH3D19 CD2AP	9.77e-05	329	46	6	int:ZYX
Interaction	PAX8 interactions	KMT2D GSE1 BCL9 KDM6A	1.19e-04	111	46	4	int:PAX8
Interaction	SORBS2 interactions	PTK2B AFDN CBL CD2AP	1.19e-04	111	46	4	int:SORBS2
Interaction	TBR1 interactions	KMT2D GSE1 BCL9 KDM6A	1.28e-04	113	46	4	int:TBR1
Interaction	CBLB interactions	PTK2B CBL TJP1 CD2AP	1.36e-04	115	46	4	int:CBLB
Interaction	TBXT interactions	KMT2D GSE1 BCL9 KDM6A	1.41e-04	116	46	4	int:TBXT
Interaction	KLF3 interactions	SETD1A SCAMP3 KMT2D GSE1 KDM6A	1.67e-04	228	46	5	int:KLF3
Interaction	SORBS1 interactions	AFDN CBL ZYX CD2AP	1.77e-04	123	46	4	int:SORBS1
Interaction	PAX7 interactions	KMT2D GSE1 BCL9 KDM6A	1.82e-04	124	46	4	int:PAX7
Interaction	PAX9 interactions	KMT2D GSE1 BCL9 KDM6A	2.19e-04	130	46	4	int:PAX9
Interaction	ZC3H7B interactions	PDE2A ZYX RC3H1	2.27e-04	52	46	3	int:ZC3H7B
Interaction	MYH2 interactions	PTK2B PDE2A CBL	2.41e-04	53	46	3	int:MYH2
Interaction	CD247 interactions	CILK1 CD3E CBL	2.69e-04	55	46	3	int:CD247
Interaction	DCAF15 interactions	AFDN CBL TJP1 ZYX CD2AP	2.80e-04	255	46	5	int:DCAF15
Interaction	TPRX2 interactions	KMT2D GSE1 KDM6A	2.83e-04	56	46	3	int:TPRX2
Interaction	SOX15 interactions	KMT2D GSE1 BCL9 KDM6A	2.98e-04	141	46	4	int:SOX15
Interaction	H2BC3 interactions	CYLC1 SETD1A KMT2D CBL TJP1 RC3H1	3.05e-04	406	46	6	int:H2BC3
Interaction	WWP1 interactions	SCAMP3 PTPN14 CBL WBP1L CUEDC1	3.06e-04	260	46	5	int:WWP1
Interaction	NFIB interactions	KMT2D GSE1 BCL9 KDM6A	3.06e-04	142	46	4	int:NFIB
Interaction	SYNM interactions	PHLPP1 CBL ZYX	3.14e-04	58	46	3	int:SYNM
Interaction	CD38 interactions	CD3E CBL	3.32e-04	12	46	2	int:CD38
Interaction	PEAK3 interactions	PTK2B CBL	3.32e-04	12	46	2	int:PEAK3
Interaction	NOTCH2 interactions	EMILIN2 LRATD2 AFDN ZNF592 TJP1 ZYX	3.80e-04	423	46	6	int:NOTCH2
Interaction	SH3D19 interactions	TJP1 ZYX SH3D19	5.25e-04	69	46	3	int:SH3D19
Interaction	ETV4 interactions	KMT2D BCL9 KDM6A	5.25e-04	69	46	3	int:ETV4
Cytoband	20q11.2	GDF5 MMP24	3.39e-04	27	46	2	20q11.2
GeneFamily	Calcium voltage-gated channel subunits\|Membrane associated guanylate kinases	MAGI3 TJP1	9.61e-04	26	32	2	904
GeneFamily	Zinc fingers C2H2-type\|Lysine methyltransferases\|PR/SET domain family	SETD1A KMT2D	1.64e-03	34	32	2	487
GeneFamily	PDZ domain containing	MAGI3 AFDN TJP1	2.42e-03	152	32	3	1220
GeneFamily	Ankyrin repeat domain containing\|FERM domain containing	PTK2B PTPN14	3.53e-03	50	32	2	1293
Coexpression	GSE45365_NK_CELL_VS_BCELL_MCMV_INFECTION_DN	PTK2B AFDN SCAMP3 KDM6A TAPBP	2.55e-05	199	46	5	M9959
Coexpression	GSE38304_MYC_NEG_VS_POS_GC_BCELL_UP	MAGI3 KMT2D GSE1 BCL9 CD2AP	2.62e-05	200	46	5	M9273
Coexpression	CLASPER_LYMPHATIC_VESSELS_DURING_METASTASIS_DN	EMILIN2 ROBO1 LOXL1	3.18e-05	35	46	3	M11788
Coexpression	CLASPER_LYMPHATIC_VESSELS_DURING_METASTASIS_DN	EMILIN2 ROBO1 LOXL1	3.47e-05	36	46	3	MM1212
Coexpression	MURARO_PANCREAS_DUCTAL_CELL	LRATD2 MAGI3 AFDN PTPN14 MYRF TJP1 TAPBP ZYX SH3D19 CD2AP	5.91e-05	1276	46	10	M39173
ToppCell	Control-Epithelial_cells-AT1\|Control / group, cell type (main and fine annotations)	MAGI3 AFDN PTPN14 MYRF TJP1	9.85e-07	174	46	5	548d7f2b958a2bfd2c95eb049ceaab55a559c77d
ToppCell	3'-Parenchyma_lung-Endothelial-Lymphatic_EC-endothelial_cell_of_lymphatic_vessel-Lymphatic_EC_differentiating-Lymphatic_EC_differentiating_L.2.5.1.1\|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5	AFDN PDE2A PTPN14 TBX1 AFAP1L1	1.10e-06	178	46	5	ad3de3e03a401dac64431a541899445262246347
ToppCell	nucseq-Epithelial-Epithelial_Alveolar-AT1-AT1\|nucseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2	MAGI3 AFDN PTPN14 MYRF TJP1	1.30e-06	184	46	5	57c792e6e2fedba25d3350ffe649fd74750b579d
ToppCell	nucseq-Epithelial-Epithelial_Alveolar-AT1\|nucseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2	MAGI3 AFDN PTPN14 MYRF TJP1	1.30e-06	184	46	5	d7bd0f0c607bade67c99e9fb3578a570298bf926
ToppCell	Children_(3_yrs)-Epithelial-alveolar_epithelial_cell_type_1\|Children_(3_yrs) / Lineage, Cell type, age group and donor	MAGI3 AFDN PTPN14 MYRF TJP1	1.33e-06	185	46	5	1c222f7285d6e3dae0354dc7e853ddc0ea55e63e
ToppCell	facs-Trachea-18m-Endothelial-endothelial_cell_of_trachea-tracheal_endothelial_cell-tracheal_endothelial_cell_l54\|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype	PDE2A TBX1 WBP1L AFAP1L1 WIPF3	1.33e-06	185	46	5	59acaf025353405948dc34ccccf37ec5c08ea903
ToppCell	droplet-Heart-nan-3m-Endothelial\|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PTPN14 TJP1 CD2AP AFAP1L1	1.37e-06	186	46	5	0ae5fbe9f210cb25092394267e1d3d6ed05627b8
ToppCell	Epithelial-alveolar_epithelial_cell_type_1\|World / Lineage, Cell type, age group and donor	MAGI3 AFDN PTPN14 MYRF TJP1	1.37e-06	186	46	5	09d95daa3387a4814cffaa4b798cc2810c3759d0
ToppCell	3'-Parenchyma_lung-Endothelial-Lymphatic_EC-endothelial_cell_of_lymphatic_vessel-Lymphatic_EC_differentiating\|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5	AFDN PDE2A PTPN14 TBX1 AFAP1L1	1.37e-06	186	46	5	20340a5b5cc7f07386498a4ef937d6fbc9e347c4
ToppCell	Adult-Epithelial-alveolar_epithelial_cell_type_1\|Adult / Lineage, Cell type, age group and donor	MAGI3 AFDN PTPN14 MYRF TJP1	1.40e-06	187	46	5	77f78aec946bc6bd85c29aee9ca978ce49f853a3
ToppCell	Adult-Epithelial-alveolar_epithelial_cell_type_1-D231\|Adult / Lineage, Cell type, age group and donor	MAGI3 AFDN PTPN14 MYRF TJP1	1.48e-06	189	46	5	5a04cb25f8f0447b2cecdb6c3695029281aca26d
ToppCell	LAM-Endothelial-LymEndo\|LAM / Condition, Lineage and Cell class	PDE2A PTPN14 ANGPTL2 TBX1 AFAP1L1	1.64e-06	193	46	5	68eadc91c2d89edd2412e86dfe134dd7c0ef6ee9
ToppCell	facs-Lung-nan-3m-Endothelial\|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation	PTPN14 TJP1 TBX1 AFAP1L1 WIPF3	1.72e-06	195	46	5	7f9b7f15006610ad591063d90e90367bd6083c7f
ToppCell	facs-GAT-Fat-3m-Endothelial\|GAT / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A PTPN14 TBX1 AFAP1L1	1.77e-06	196	46	5	b6cc1f466d45479764080d34b1daeb8243a5a9f3
ToppCell	facs-GAT-Fat-3m-Endothelial-endothelial_cell\|GAT / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A PTPN14 TBX1 AFAP1L1	1.77e-06	196	46	5	ede6104cdfa4ee5287efcca9bbc36677cbf7a8d8
ToppCell	facs-GAT-Fat-3m-Endothelial-nan\|GAT / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A PTPN14 TBX1 AFAP1L1	1.77e-06	196	46	5	039044ab28c53391c34d8226fb8cf78549e63ef4
ToppCell	renal_medulla_nuclei-Hypertensive_with+without-CKD-Endothelial-blood_vessel_endothelial_cell_of_kidney-capillary-immature_endothelial_cell\|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group	PHLPP1 ROBO1 PDE2A GSE1 AFAP1L1	1.81e-06	197	46	5	cd509e49bbdbf991cc5913960ff3ef275ad40628
ToppCell	renal_medulla_nuclei-Hypertensive_with+without-CKD-Endothelial-blood_vessel_endothelial_cell_of_kidney-capillary-immature_endothelial_cell-Peritubular_Capilary_Endothelial_Cell_\|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group	PHLPP1 ROBO1 PDE2A GSE1 AFAP1L1	1.81e-06	197	46	5	412cb5f37df57121ddd1492021445479c7cbccbf
ToppCell	10x5'v1-week_14-16-Endothelial-stroma-tip_EC\|week_14-16 / cell types per 3 fetal stages;per 3',per 5'	ROBO1 PDE2A TJP1 TBX1 AFAP1L1	1.95e-06	200	46	5	77ac1aa73c16a4f595ff01c6b4e171e0b8fed1e6
ToppCell	droplet-Heart-HEART_(ALL_4:4:4:1:1)-30m-Endothelial\|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation	PWWP2A MMP24 CD3E TBX1	8.74e-06	126	46	4	4eeea015efe17e0aae5bd76b71fa70b5149dfada
ToppCell	Frontal_cortex-Endothelial-ENDOTHELIAL_TIP-Dcn_1-Dcn_1_1\|Frontal_cortex / BrainAtlas - Mouse McCarroll V32	ALX3 GDF5 CD3E LOXL1	9.59e-06	129	46	4	856255fbfc7f95642000cfd7704141b2388f7c5c
ToppCell	Frontal_cortex-Endothelial-ENDOTHELIAL_TIP-Dcn_1\|Frontal_cortex / BrainAtlas - Mouse McCarroll V32	ALX3 CD3E ANGPTL2 LOXL1	1.93e-05	154	46	4	65dbb60f636562eeba3dafadae9c0c7db2b27476
ToppCell	368C-Lymphocytic-CD8+_Cytotoxic_T-cell-CD8+_Cytotoxic_T_cell_4\|Lymphocytic / Donor, Lineage, Cell class and subclass (all cells)	PDE2A ZNF592 MYRF WBP1L	2.35e-05	162	46	4	ca30d9bf61f4133566fdc91c7996e130ea554d01
ToppCell	Endothelial-B-Donor_01\|World / lung cells shred on cell class, cell subclass, sample id	PDE2A PTPN14 TBX1 AFAP1L1	2.52e-05	165	46	4	b6893882472aeb0d18e26f47eaec9d53688afcde
ToppCell	3'-Pediatric_IBD-SmallIntestine-Endothelial-lymphatic_endothelial-LEC1_(ACKR4+)\|Pediatric_IBD / Celltypes from developing, pediatric, Crohn's, & adult GI tract	PTPN14 TBX1 AFAP1L1 WIPF3	2.84e-05	170	46	4	4848965bc7e9356c6601bb41eeea1553d2eea87e
ToppCell	Endothelial-B-Donor_06\|World / lung cells shred on cell class, cell subclass, sample id	PDE2A PTPN14 TBX1 AFAP1L1	2.97e-05	172	46	4	8a527dff06d841a86c7eb04a1dd9630787294da4
ToppCell	5'-Adult-LargeIntestine-Endothelial-lymphatic_endothelial-LEC3_(ADGRG3+)\|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract	PDE2A PTPN14 TBX1 AFAP1L1	3.04e-05	173	46	4	7dc988fc0ba29990567bf1bcdeb3faeeee507eb1
ToppCell	facs-Lung-ENDOMUCIN-18m-Endothelial-Lymphatic_endothelial_cell\|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation	PDE2A EFHD1 TBX1 WIPF3	3.18e-05	175	46	4	9d082ba0e350162aa6e71b668be074b12a27c7ab
ToppCell	facs-Lung-ENDOMUCIN-18m-Endothelial-endothelial_cell_of_lymphatic_vessel\|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation	PDE2A EFHD1 TBX1 WIPF3	3.18e-05	175	46	4	f641f34b52aec5d047430a6f9d026e915da6c11d
ToppCell	facs-Trachea-24m-Endothelial-endothelial_cell_of_trachea-tracheal_endothelial_cell-tracheal_endothelial_cell_l54\|24m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype	PTPN14 TBX1 AFAP1L1 WIPF3	3.25e-05	176	46	4	460cb302c5b3d609c65b924e1d4e8ea057a68485
ToppCell	Children_(3_yrs)-Epithelial-alveolar_epithelial_cell_type_1-D046\|Children_(3_yrs) / Lineage, Cell type, age group and donor	MAGI3 PTPN14 MYRF TJP1	3.47e-05	179	46	4	4f6ca313b78aa93557937a046c44dcf8bcc9963c
ToppCell	ILEUM-non-inflamed-(7)_Lymphatics\|non-inflamed / shred on tissue, inflammation_status, cell class(v3), cell subclass (v2)	PDE2A TJP1 TBX1 AFAP1L1	3.47e-05	179	46	4	99777a8931356d1206b8ab22aaa1b1d5a600b809
ToppCell	droplet-Fat-Gat-18m-Endothelial-nan\|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	LRATD2 PDE2A SOWAHA AFAP1L1	3.47e-05	179	46	4	08cf9986804a6417a9afb19b50c69a3554f71ec6
ToppCell	367C-Endothelial_cells-Endothelial-F_(Lymphatics)-\|367C / Donor, Lineage, Cell class and subclass (all cells)	PDE2A PTPN14 TBX1 AFAP1L1	3.62e-05	181	46	4	b244ecaa442bbef51289d8ec574ef08fa9e96318
ToppCell	droplet-Heart-nan-3m-Endothelial-coronary_vascular_endothelial_cell\|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	3.62e-05	181	46	4	92d44892bb15771f0ab5fe61879b204b0acbd9b3
ToppCell	367C-Endothelial_cells-Endothelial-F_(Lymphatics)\|367C / Donor, Lineage, Cell class and subclass (all cells)	PDE2A PTPN14 TBX1 AFAP1L1	3.62e-05	181	46	4	dd79de8098edb385a0f85d0e9621503cdf76ec43
ToppCell	3'-GW_trimst-1.5-SmallIntestine-Endothelial-lymphatic_endothelial-LEC4_(STAB2+)\|GW_trimst-1.5 / Celltypes from developing, pediatric, Crohn's, & adult GI tract	AFDN PDE2A TBX1 AFAP1L1	3.78e-05	183	46	4	a90ffd9c50caa65f537a2e441e37655e1b622327
ToppCell	Anterior_Cingulate_gyrus_(CgG)-Non-neuronal-Macroglial-Oligo-Oligodendrocyte\|Anterior_Cingulate_gyrus_(CgG) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	PHLPP1 MYRF EFHD1 FAM222A	3.78e-05	183	46	4	93213124e55d1b673dd345188caf8b5bd31d99fe
ToppCell	3'-GW_trimst-1.5-SmallIntestine-Endothelial-lymphatic_endothelial\|GW_trimst-1.5 / Celltypes from developing, pediatric, Crohn's, & adult GI tract	AFDN PDE2A TBX1 AFAP1L1	3.78e-05	183	46	4	13ad20ec140ef5b96fdace3369b5befc0f40bb76
ToppCell	Anterior_Cingulate_gyrus_(CgG)-Non-neuronal-Macroglial-Oligo-Oligodendrocyte-Oligo_L4-6_OPALIN\|Anterior_Cingulate_gyrus_(CgG) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	PHLPP1 MYRF EFHD1 FAM222A	3.86e-05	184	46	4	f6d6b3ddada66dae28d3306415bf4efe0934208a
ToppCell	(6)_Endothelial-F_(Lymphatics)\|World / Lung cell shreds - cell class (v4) and cell subclass (v4)	PDE2A PTPN14 TBX1 AFAP1L1	3.86e-05	184	46	4	03ea613e00b45c81b752c14505a0538d698f551e
ToppCell	3'-Broncho-tracheal-Endothelial-Lymphatic_EC\|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5	PDE2A ANGPTL2 TBX1 AFAP1L1	3.86e-05	184	46	4	15cbddea9efb2346a2028d77edfe9ba32923568f
ToppCell	3'-Broncho-tracheal-Endothelial-Lymphatic_EC-endothelial_cell_of_lymphatic_vessel\|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5	PDE2A ANGPTL2 TBX1 AFAP1L1	3.86e-05	184	46	4	0087c605c161fd8a39aa394f51994a04e8353bf1
ToppCell	5'-GW_trimst-1.5-LargeIntestine-Mesenchymal-mesothelial_cell\|GW_trimst-1.5 / Celltypes from developing, pediatric, Crohn's, & adult GI tract	LRATD2 GDF5 AFDN MYRF	3.86e-05	184	46	4	e0beb016823514eebdbfc13beb0807efb4470f08
ToppCell	droplet-Heart-4Chambers-21m-Endothelial\|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation	PDE2A PTPN14 AFAP1L1 WIPF3	3.86e-05	184	46	4	f17d713af4a97dff4eeeab24c405677ef2ffcf84
ToppCell	3'-Broncho-tracheal-Endothelial-Lymphatic_EC-endothelial_cell_of_lymphatic_vessel-Lymphatic_EC_mature-Lymphatic_EC_mature_L.2.5.0.0\|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5	PDE2A ANGPTL2 TBX1 AFAP1L1	3.86e-05	184	46	4	968afa6b5ba84169377a24c150bb68749fa674d9
ToppCell	3'-Broncho-tracheal-Endothelial-Lymphatic_EC-endothelial_cell_of_lymphatic_vessel-Lymphatic_EC_mature\|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5	PDE2A ANGPTL2 TBX1 AFAP1L1	3.86e-05	184	46	4	920f95625978132c2b6c76654ef6298244103e2d
ToppCell	Adult-Epithelial-alveolar_epithelial_cell_type_1-D122\|Adult / Lineage, Cell type, age group and donor	MAGI3 AFDN MYRF TJP1	3.86e-05	184	46	4	561592edc3083fad41b91811151b442207c65dd9
ToppCell	droplet-Kidney-KIDNEY-1m-Epithelial-Pecam____kidney_capillary_endothelial_cell\|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation	GDF5 ROBO1 ANGPTL2 WIPF3	3.86e-05	184	46	4	1c857126c0ea0671f0d60b048efca288d348d653
ToppCell	facs-Mammary_Gland-Mammary_Gland-3m-Mesenchymal-stromal_cell\|Mammary_Gland / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation	EMILIN2 ANGPTL2 EFHD1 LOXL1	3.95e-05	185	46	4	3cd0686a14e734a0f243070ab939adcb4c454478
ToppCell	facs-Mammary_Gland-Mammary_Gland-3m-Mesenchymal-stromal_cell\|Mammary_Gland / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation	EMILIN2 ANGPTL2 EFHD1 LOXL1	3.95e-05	185	46	4	00258f458cbf6d36449db95528a6b5038d731d2d
ToppCell	facs-Mammary_Gland-Mammary_Gland-3m-Mesenchymal\|Mammary_Gland / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation	EMILIN2 ANGPTL2 EFHD1 LOXL1	3.95e-05	185	46	4	a94694e226856bc5b168464f52d76004145717a5
ToppCell	COVID-19-Neuronal_cells-Neuronal_cells\|COVID-19 / group, cell type (main and fine annotations)	PDE2A PTPN14 TBX1 AFAP1L1	3.95e-05	185	46	4	4a095829992b39856a73bdfac03ee68b9aa0d3b8
ToppCell	ILEUM-inflamed-(7)_Lymphatics\|inflamed / shred on tissue, inflammation_status, cell class(v3), cell subclass (v2)	PDE2A TJP1 TBX1 AFAP1L1	3.95e-05	185	46	4	d711dd2e91cfee723dae1ccb2b910b8cf3becc3b
ToppCell	droplet-Kidney-KIDNEY-1m-Epithelial-Epcam____podocyte\|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation	GDF5 PTPN14 ANGPTL2 LOXL1	3.95e-05	185	46	4	872720275789d249c9859de825a923803d458875
ToppCell	COVID-19-Neuronal_cells\|COVID-19 / group, cell type (main and fine annotations)	PDE2A PTPN14 TBX1 AFAP1L1	3.95e-05	185	46	4	36ce23893915f5c380cca39b2c33a516edf31c3a
ToppCell	3'-GW_trimst-1-LargeIntestine-Mesenchymal-mesothelial_cell-Mesothelium_(RGS5+)\|GW_trimst-1 / Celltypes from developing, pediatric, Crohn's, & adult GI tract	LRATD2 GDF5 AFDN MYRF	3.95e-05	185	46	4	11fbea1eb1d9a3e4480d0d2b0f7b02e2866b8142
ToppCell	10x5'v1-week_12-13-Endothelial-stroma-sinusoidal_EC\|week_12-13 / cell types per 3 fetal stages;per 3',per 5'	PDE2A PTPN14 TJP1 AFAP1L1	4.03e-05	186	46	4	e8ead5634686ebaa6a230eea69795d923ce9939d
ToppCell	5'-Parenchyma_lung-Endothelial-Lymphatic_EC-endothelial_cell_of_lymphatic_vessel-Lymphatic_EC_differentiating\|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5	PDE2A PTPN14 TBX1 AFAP1L1	4.03e-05	186	46	4	40070d9cd20188ba49b32acfca9bc16256b38bf5
ToppCell	primary_auditory_cortex_(A1C)-Non-neuronal-Macroglial-Oligo-Oligodendrocyte-Oligo_L4-6_OPALIN\|primary_auditory_cortex_(A1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	PHLPP1 MYRF EFHD1 CUEDC1	4.11e-05	187	46	4	f0de86ef25e344d9b1860ee26308877d6c25ed31
ToppCell	primary_auditory_cortex_(A1C)-Non-neuronal-Macroglial-Oligo-Oligodendrocyte\|primary_auditory_cortex_(A1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	PHLPP1 MYRF EFHD1 CUEDC1	4.11e-05	187	46	4	b71d0cd91bc98e020757c1d071a13ad48d718bcf
ToppCell	Children_(3_yrs)-Epithelial-alveolar_epithelial_cell_type_1-D139\|Children_(3_yrs) / Lineage, Cell type, age group and donor	MAGI3 PTPN14 MYRF TJP1	4.11e-05	187	46	4	d4b0afd9b92c47c8aa348bbd1af7eb54c3d478f2
ToppCell	Adult-Endothelial-endothelial_cell_of_lymph_vessel-D175\|Adult / Lineage, Cell type, age group and donor	PDE2A PTPN14 TBX1 AFAP1L1	4.11e-05	187	46	4	1e52d3d9d664c813d859b5b75e4c07b218818f95
ToppCell	droplet-Fat-SCAT-30m-Endothelial-Cd36+\|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.20e-05	188	46	4	e901a9bdf00b8e91806f445af66647373bf62661
ToppCell	Somatosensory_Cortex_(S1)-Non-neuronal-Macroglial-Oligo\|Somatosensory_Cortex_(S1) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	PHLPP1 MYRF EFHD1 CUEDC1	4.20e-05	188	46	4	60242c29c7f16c94a84685d3bc4ed93a66e70152
ToppCell	Fetal_29-31_weeks-Epithelial-alveolar_epithelial_cell_type_1\|Fetal_29-31_weeks / Lineage, Cell type, age group and donor	MAGI3 AFDN PTPN14 MYRF	4.20e-05	188	46	4	eea652bab161f19148a883e7e3fe2523b36b3cea
ToppCell	droplet-Fat-Scat-21m-Endothelial-Cd36+\|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.20e-05	188	46	4	8671fdbc4138e6f9559920779c98628ed80f0da3
ToppCell	Endothelial-endothelial_cell_of_lymph_vessel\|World / Lineage, Cell type, age group and donor	PDE2A PTPN14 TBX1 AFAP1L1	4.20e-05	188	46	4	80910dcbb51990f2baed240f319456c0d3fa2065
ToppCell	Endothelial-B\|World / lung cells shred on cell class, cell subclass, sample id	PDE2A PTPN14 TBX1 AFAP1L1	4.20e-05	188	46	4	5959a88728812a5f4cbfa54eddc7a73ccbaa2f68
ToppCell	Children_(3_yrs)-Endothelial-endothelial_cell_of_lymph_vessel\|Children_(3_yrs) / Lineage, Cell type, age group and donor	PDE2A PTPN14 TBX1 AFAP1L1	4.20e-05	188	46	4	c2805232618a7b6f844d34e37ad458a9923dbfe1
ToppCell	primary_auditory_cortex_(A1C)-Non-neuronal-Macroglial-Oligo\|primary_auditory_cortex_(A1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	PHLPP1 MYRF EFHD1 CUEDC1	4.20e-05	188	46	4	b04fd6a724c117eb9a979c29b91f90113feb7a5c
ToppCell	5'-Adult-Distal_Rectal-Endothelial-lymphatic_endothelial-LEC6_(ADAMTS4+)\|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract	PDE2A PTPN14 TBX1 AFAP1L1	4.20e-05	188	46	4	524a12f433c7b6f33fad36c0716afa06cd3235e9
ToppCell	Striatum-Neuronal-Excitatory-eN3(Slc17a7_Gad1Gad2)\|Striatum / BrainAtlas - Mouse McCarroll V32	PTK2B PDE2A SOWAHA WIPF3	4.20e-05	188	46	4	e34ea7014c5a059a7db38f78bd903cf02616ddd3
ToppCell	droplet-Fat-SCAT-30m-Endothelial-endothelial_cell\|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.20e-05	188	46	4	5cf060bb8adaefa9964187195d67993c1248ef47
ToppCell	droplet-Fat-SCAT-30m-Endothelial\|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.20e-05	188	46	4	449f9602df3c83b2110eb479a00d428d1b55b423
ToppCell	5'-Adult-Distal_Rectal-Endothelial-lymphatic_endothelial\|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract	PDE2A PTPN14 TBX1 AFAP1L1	4.20e-05	188	46	4	d2610b81b3c7f22977b5e2137b1f61410fc4ef16
ToppCell	Children_(3_yrs)-Endothelial-endothelial_cell_of_lymph_vessel-D046\|Children_(3_yrs) / Lineage, Cell type, age group and donor	PDE2A PTPN14 TBX1 AFAP1L1	4.20e-05	188	46	4	2db80767903703e7e0a1a37c598f7877a909ee94
ToppCell	Children_(3_yrs)-Endothelial-endothelial_cell_of_lymph_vessel-D139\|Children_(3_yrs) / Lineage, Cell type, age group and donor	PDE2A PTPN14 TBX1 AFAP1L1	4.20e-05	188	46	4	aeecbc057dc823f8fcea8a98f18d213bacc7f4db
ToppCell	primary_auditory_cortex_(A1C)-Non-neuronal-Macroglial\|primary_auditory_cortex_(A1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	PHLPP1 MYRF EFHD1 CUEDC1	4.29e-05	189	46	4	784ace2be87f2ecb19490f4974f63a559516e0eb
ToppCell	droplet-Fat-Scat-21m-Endothelial-endothelial_cell\|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.38e-05	190	46	4	d3e46cf800a07ca9b01c78192962d223b9785d05
ToppCell	Transplant_Alveoli_and_parenchyma-Endothelial-Lymphatic\|Transplant_Alveoli_and_parenchyma / Tissue, Lineage and Cell class of Lung Cells from 10X	PDE2A PTPN14 TBX1 AFAP1L1	4.38e-05	190	46	4	8d6ec2fc0af19a5cb16fff34f8b131b71b33d45f
ToppCell	Children_(3_yrs)-Endothelial-endothelial_cell_of_lymph_vessel-D032\|Children_(3_yrs) / Lineage, Cell type, age group and donor	PDE2A PTPN14 TBX1 AFAP1L1	4.38e-05	190	46	4	6e6ce6dd549d1c38cfef5b3f8be06ab01ce344b7
ToppCell	facs-SCAT-Fat-18m-Endothelial-nan\|SCAT / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.38e-05	190	46	4	b0c9dae8189d407c94964c6bfe3ef92035245357
ToppCell	droplet-Fat-Scat-21m-Endothelial\|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.38e-05	190	46	4	dd89ef1ecea20b2f6fbdc6cea4ca41b28b3ed822
ToppCell	Children_(3_yrs)-Epithelial-alveolar_epithelial_cell_type_1-D032\|Children_(3_yrs) / Lineage, Cell type, age group and donor	MAGI3 AFDN MYRF TJP1	4.38e-05	190	46	4	30b50d183d7649146eb1e79b47ba897355f1998a
ToppCell	facs-SCAT-Fat-18m-Endothelial\|SCAT / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.38e-05	190	46	4	ee63dc04e91ad49aa7820c98e97261176ecebaa6
ToppCell	facs-Lung-3m-Endothelial-lymphatic_endothelial\|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype	PDE2A PTPN14 TBX1 WIPF3	4.38e-05	190	46	4	a1514d2186eb4fe569971ab22dc0c17d353fb94a
ToppCell	droplet-Fat-BAT+GAT+MAT-30m-Endothelial-endothelial_cell\|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.38e-05	190	46	4	c8370c922e0cf0e0c36e02e1ed2b4053ad6a8073
ToppCell	Adult-Endothelial-endothelial_cell_of_lymph_vessel\|Adult / Lineage, Cell type, age group and donor	PDE2A PTPN14 TBX1 AFAP1L1	4.38e-05	190	46	4	91bf3b7e9148589757436a53a4f58e0ebfe54400
ToppCell	LV-01._Fibroblast_I\|World / Chamber and Cluster_Paper	ROBO1 ARHGAP6 EFHD1 SH3D19	4.38e-05	190	46	4	12992ec80a7b4f4f17de693f0719ee061a9918fd
ToppCell	droplet-Fat-BAT+GAT+MAT-30m-Endothelial-nan\|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.38e-05	190	46	4	5174f91a880f85bb20806023aa68bd4b8ca24ea5
ToppCell	facs-SCAT-Fat-18m-Endothelial-endothelial_cell\|SCAT / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.38e-05	190	46	4	0e50808bfc3d0820524c8470ae3e8250819d65b2
ToppCell	facs-Lung-3m-Endothelial-lymphatic_endothelial-lymphatic_endothelial_cell\|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype	PDE2A PTPN14 TBX1 WIPF3	4.38e-05	190	46	4	0bb954a94317cfc742b9b6221bb80f8baa6d3ff1
ToppCell	wk_20-22-Endothelial-Lymph_endothelial-Intermediate_lymphatic_endo\|wk_20-22 / Celltypes from embryonic and fetal-stage human lung	PDE2A PTPN14 TBX1 AFAP1L1	4.38e-05	190	46	4	103e78c2233c3ee0c215a9dafe70705477e9ee5e
ToppCell	facs-Lung-3m-Endothelial-lymphatic_endothelial-lymphatic_endothelial_cell-lymphatic_endothelial_cell\|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype	PDE2A PTPN14 TBX1 WIPF3	4.38e-05	190	46	4	26e2237f65cb43723c5da853831b40df2982d6e4
ToppCell	droplet-Mammary_Gland-nan-18m-Mesenchymal-stromal_cell\|Mammary_Gland / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation	EMILIN2 ANGPTL2 EFHD1 LOXL1	4.38e-05	190	46	4	47077579496c5340e99f61499427a3a36b566da3
ToppCell	droplet-Fat-BAT+GAT+MAT-30m-Endothelial\|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.38e-05	190	46	4	90e494cbfbed33a3a0d29bb7dae83f0c81580bcf
ToppCell	facs-SCAT-Fat-3m-Endothelial-nan\|SCAT / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation	AFDN PDE2A TJP1 AFAP1L1	4.47e-05	191	46	4	a0018f88f7132477cc467ee15db029a585290595
ToppCell	3'-Pediatric_IBD-SmallIntestine-Endothelial-lymphatic_endothelial-LEC3_(ADGRG3+)\|Pediatric_IBD / Celltypes from developing, pediatric, Crohn's, & adult GI tract	PDE2A TJP1 TBX1 AFAP1L1	4.47e-05	191	46	4	361b123c8289015206d5e706ab2c615d9a724179
ToppCell	10x5'v1-week_12-13-Endothelial-stroma-tip_EC\|week_12-13 / cell types per 3 fetal stages;per 3',per 5'	MMP24 TJP1 TBX1 AFAP1L1	4.47e-05	191	46	4	cf1a67b7c0d5c0dc5d4d59faf9d9b1a3a1fb00e0
Disease	Kabuki syndrome 1	KMT2D KDM6A	2.38e-06	2	46	2	cv:CN030661
Disease	Kabuki syndrome (is_implicated_in)	KMT2D KDM6A	2.38e-06	2	46	2	DOID:0060473 (is_implicated_in)
Disease	KABUKI SYNDROME 1	KMT2D KDM6A	2.38e-06	2	46	2	147920
Disease	Kabuki syndrome (implicated_via_orthology)	KMT2D KDM6A	7.13e-06	3	46	2	DOID:0060473 (implicated_via_orthology)
Disease	Kabuki make-up syndrome	KMT2D KDM6A	1.42e-05	4	46	2	C0796004
Disease	intermittent Staphylococcus aureus carrier status	CILK1 ROBO1	8.50e-05	9	46	2	EFO_0007758
Disease	prostate cancer (is_marker_for)	PHLPP1 PTK2B KMT2D KDM6A	1.03e-04	156	46	4	DOID:10283 (is_marker_for)
Disease	Microphthalmos	KMT2D MYRF	1.30e-04	11	46	2	C0026010
Disease	Severe Combined Immunodeficiency	CD3E TBX1	4.44e-04	20	46	2	C0085110
Disease	Polydactyly	ALX3 GDF5 CILK1	8.14e-04	117	46	3	C0152427
Disease	lung small cell carcinoma (is_implicated_in)	KMT2D KDM6A	8.76e-04	28	46	2	DOID:5409 (is_implicated_in)
Disease	Developmental Disabilities	SETD1A CBL	1.01e-03	30	46	2	C0008073
Disease	joint hypermobility measurement	GDF5 LOXL1	1.22e-03	33	46	2	EFO_0007905
Disease	triglyceride measurement, response to diuretic	GSE1 RAX	1.29e-03	34	46	2	EFO_0004530, GO_0036270
Disease	lung non-small cell carcinoma (is_implicated_in)	KMT2D CBL KDM6A	1.34e-03	139	46	3	DOID:3908 (is_implicated_in)
Disease	Bladder Neoplasm	KMT2D KDM6A LOXL1	1.37e-03	140	46	3	C0005695
Disease	Malignant neoplasm of urinary bladder	KMT2D KDM6A LOXL1	1.39e-03	141	46	3	C0005684
Disease	platelet measurement	PWWP2A GSE1 CBL CD2AP	1.46e-03	315	46	4	EFO_0005036
Disease	sexual dimorphism measurement	GDF5 MMP24 ZNF592 MYRF LOXL1 WBP1L ZBTB4	1.52e-03	1106	46	7	EFO_0021796

Protein segments in the cluster

Peptide	Gene	Start	Entry
PGLCRPPLPRDYEPP	AFDN	1681	P55196
PPLPRDYEPPSPSPA	AFDN	1686	P55196
PLAYPKPPEAPAPPP	FAM222A	156	Q5U5X8
KPPPPPPQPLRAYSG	FAM222A	291	Q5U5X8
PLEPYLPEPAKPPAK	ALX3	56	O95076
REPAPLDKYQPPPPP	GSE1	641	Q14687
RPVPQPPPAAPPRVY	ANGPTL2	211	Q9UKU9
GTVYPKRPEKPVPPP	CD2AP	406	Q9Y5K6
RPPPSAPEPAPPYLD	RC3H1	626	Q5TC82
KLVPDNYPPGDQPPP	MSL3P1	356	P0C860
YGPPAEPLEPTRPLP	MMP24	326	Q9Y5R2
EPGPPREPKEPFRPP	GDF5	151	P43026
PKPPAEPSPFQPDPV	MAGI3	191	Q5TCQ9
DKCPPPRPPSSPYPP	KDM6A	916	O15550
PRPPSSPYPPLPKDK	KDM6A	921	O15550
PPPPPPPDGLDRRYS	LOXL1	261	Q08397
PPPEAYGPPRALEPP	LOXL1	316	Q08397
LKPDEPPPPPQPCAD	PDE2A	31	O00408
PPPPKPRYAPLPEAP	CYLC1	631	P35663
FDRPYPLAPPTPPPR	CUEDC1	141	Q9NWM3
PPPPQPQPYDPRLHE	LRATD2	66	Q96KN1
DDKRPPPPYPGPGKP	ARHGAP6	876	O43182
PAPAPKPAAPPRPLD	BCL9	261	O00512
NKERPPPVPNPDYEP	CD3E	176	P07766
APAPEPKPEPEPPAR	EFHD1	31	Q9BUP0
DLPPPPPPDRPYSVG	CBL	541	P22681
PPPPAEAPKEPLQPE	EMILIN2	791	Q9BXX0
QEPPPKPSRPKYRPP	PTK2B	711	Q14289
TREPPPAYEPPAPAP	SCAMP3	46	O14828
KPPPLFHEGAPYPPP	PWWP2A	261	Q96N64
DPVLPPRPKPGHPLY	SH3D19	396	Q5HYK7
RIYPFPENPEAPKPP	FER1L5	1456	A0AVI2
LARIPNKPPPEYPGP	PTPN14	741	Q15678
AQEPPAPPPPLPPYA	WIPF3	286	A6NGB9
AYLLPPRPDGPPPPE	SETD1A	631	O15047
PPAPAPAPEYEAPRP	RAX	86	Q9Y2V3
ADLPPPLPNKPPPED	AFAP1L1	111	Q8TED9
AGPPPYIKPVPPAQP	CILK1	311	Q9UPZ9
KKPRPPEPEPAPFGP	SOWAHA	81	Q2M3V2
PGEPPPRPDLDPELY	TAPBP	51	O15533
SPPPPALPLYPDPVR	ZNF592	691	Q92610
TAPPRPPKKREYPPP	ZBTB4	511	Q9P1Z0
PPKKREYPPPPPEPA	ZBTB4	516	Q9P1Z0
YTDDLPPPPVPPPAI	ROBO1	1476	Q9Y6N7
EKRYEPIQATPPPPP	TJP1	1416	Q07157
LPPPPPPSLNPDYIQ	ZC2HC1B	106	Q5TFG8
GPEAPIPPPPQPREK	ZYX	126	Q15942
KAPPPPPPPTLYVQL	PHLPP1	461	O60346
REPPPPPPRYDPCAA	TBX1	41	O43435
PPYEEVVNRPPTPPP	WBP1L	106	Q9NX94
DPYAQPPLTPRPQPP	KMT2D	2376	O14686
PPPPPPHYPVLQRDL	MYRF	191	Q9Y2G1