Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	Roundabout binding	RTN4R RTN4RL1 SLIT1	1.78e-04	12	191	3	GO:0048495
GeneOntologyMolecularFunction	bicarbonate transmembrane transporter activity	SLC39A5 SLC39A4 SLC4A3 SLC4A2	2.37e-04	32	191	4	GO:0015106
GeneOntologyMolecularFunction	neuregulin receptor activity	ERBB3 RTN4R	2.71e-04	3	191	2	GO:0038131
GeneOntologyMolecularFunction	enzyme-substrate adaptor activity	PRAMEF10 RPTOR PRAMEF33 SPSB1 PRAMEF20 FBXL19	3.04e-04	95	191	6	GO:0140767
HumanPheno	Small hand	USP9X WDR81 EVC DLK1 NDN NIPBL DPH1 OCA2 HUWE1 PUM1 HTT	1.45e-06	122	76	11	HP:0200055
HumanPheno	Aplasia/Hypoplasia involving bones of the feet	USP9X WDR81 DLK1 NDN ARID1B TONSL NIPBL HSPG2 NELFA BHLHA9 OCA2 HUWE1 DCHS1 ALOXE3 HTT	2.49e-05	298	76	15	HP:0006494
Domain	L_dom-like	ERBB3 LRWD1 PRAMEF10 RTN4R LRFN3 LRRK2 PIDD1 LINGO3 STK11IP TONSL CFAP410 CARMIL2 PRAMEF20 RTN4RL1 FBXL19 NISCH SLIT1 RTN4RL2	9.38e-09	328	193	18	IPR032675
Domain	-	LRWD1 PRAMEF10 RTN4R LRFN3 LRRK2 PIDD1 LINGO3 STK11IP TONSL CFAP410 CARMIL2 PRAMEF20 RTN4RL1 FBXL19 NISCH SLIT1 RTN4RL2	4.15e-08	321	193	17	3.80.10.10
Domain	Leu-rich_rpt	LRWD1 RTN4R LRFN3 LRRK2 PIDD1 LINGO3 STK11IP TONSL CFAP410 CARMIL2 RTN4RL1 FBXL19 NISCH SLIT1 RTN4RL2	1.51e-07	271	193	15	IPR001611
Domain	ARM-type_fold	USP9X LRRK2 TSC2 RPTOR NIPBL TANGO6 DOCK3 COPG1 UBR4 USP24 HUWE1 MEI1 MROH6 PUM1 HTT PPP6R3	5.00e-07	339	193	16	IPR016024
Domain	ARM-like	USP9X LRRK2 TSC2 ARID1B RPTOR NIPBL TANGO6 COPG1 HUWE1 MEI1 MROH6 PUM1 HTT PPP6R3	8.74e-07	270	193	14	IPR011989
Domain	LRR_1	LRWD1 RTN4R LRFN3 LRRK2 PIDD1 LINGO3 CFAP410 RTN4RL1 FBXL19 NISCH SLIT1 RTN4RL2	3.06e-06	219	193	12	PF00560
Domain	-	USP9X LRRK2 TSC2 ARID1B RPTOR NIPBL TANGO6 COPG1 MROH6 PUM1 HTT	2.04e-05	222	193	11	1.25.10.10
Domain	LRR	LRWD1 RTN4R LRRK2 PIDD1 LINGO3 STK11IP CFAP410 RTN4RL1 NISCH SLIT1	4.72e-05	201	193	10	PS51450
Domain	LRR_TYP	LRWD1 RTN4R LRFN3 LRRK2 PIDD1 LINGO3 RTN4RL1 SLIT1 RTN4RL2	9.59e-05	177	193	9	SM00369
Domain	Leu-rich_rpt_typical-subtyp	LRWD1 RTN4R LRFN3 LRRK2 PIDD1 LINGO3 RTN4RL1 SLIT1 RTN4RL2	9.59e-05	177	193	9	IPR003591
Domain	-	SH3TC1 TONSL SH3TC2 P4HA2 CCNF TMTC4 EDRF1 CDC23 CFAP46	3.10e-04	207	193	9	1.25.40.10
Domain	Anion_exchange_CS	SLC4A3 SLC4A2	3.17e-04	3	193	2	IPR018241
Domain	TPR_REGION	SH3TC1 TONSL SH3TC2 P4HA2 TMTC4 EDRF1 CDC23 CFAP46	3.24e-04	165	193	8	PS50293
Domain	TPR	SH3TC1 TONSL SH3TC2 P4HA2 TMTC4 EDRF1 CDC23 CFAP46	3.24e-04	165	193	8	PS50005
Domain	Cys-rich_flank_reg_C	RTN4R LRFN3 LINGO3 RTN4RL1 SLIT1 RTN4RL2	3.41e-04	90	193	6	IPR000483
Domain	LRRCT	RTN4R LRFN3 LINGO3 RTN4RL1 SLIT1 RTN4RL2	3.41e-04	90	193	6	SM00082
Domain	IQ_motif_EF-hand-BS	IQCF2 MYO9A IQCF1 MYO15B MYO18B MYO16	3.41e-04	90	193	6	IPR000048
Domain	IQ	IQCF2 MYO9A IQCF1 MYO15B MYO18B MYO16	4.07e-04	93	193	6	PS50096
Domain	LRR_8	RTN4R LRFN3 LRRK2 PIDD1 LINGO3 RTN4RL1 SLIT1 RTN4RL2	4.12e-04	171	193	8	PF13855
Domain	LRRNT	RTN4R LRFN3 LINGO3 RTN4RL1 SLIT1 RTN4RL2	5.39e-04	98	193	6	IPR000372
Domain	LRRNT	RTN4R LRFN3 LINGO3 RTN4RL1 SLIT1 RTN4RL2	5.39e-04	98	193	6	SM00013
Domain	Myosin_head_motor_dom	MYO9A MYO15B MYO18B MYO16	6.20e-04	38	193	4	IPR001609
Domain	MYOSIN_MOTOR	MYO9A MYO15B MYO18B MYO16	6.20e-04	38	193	4	PS51456
Domain	Myosin_head	MYO9A MYO15B MYO18B MYO16	6.20e-04	38	193	4	PF00063
Domain	MYSc	MYO9A MYO15B MYO18B MYO16	6.20e-04	38	193	4	SM00242
Domain	TPR-like_helical_dom	SH3TC1 TONSL SH3TC2 P4HA2 CCNF TMTC4 EDRF1 CDC23 CFAP46	7.31e-04	233	193	9	IPR011990
Domain	CTCK_1	SSPOP CCN1 SLIT1	7.91e-04	18	193	3	PS01185
Domain	TPR-contain_dom	SH3TC1 TONSL SH3TC2 P4HA2 TMTC4 EDRF1 CDC23	9.58e-04	150	193	7	IPR013026
Domain	Anion_exchange	SLC4A3 SLC4A2	1.04e-03	5	193	2	IPR001717
Pubmed	A dual-activity topoisomerase complex regulates mRNA translation and turnover.	LRWD1 VWA8 SPEG PIEZO1 PEX6 TSC2 FHIP1B STK11IP ABCA7 SH3TC1 RPTOR HERC1 RGL2 ABCC10 DOCK3 MPP3 HSPG2 ESYT1 UBR4 HUWE1 FBXL19 TEP1 PIP5K1C C2CD3 CELSR3 RPAP1 MAP1S MROH6 NISCH TMEM268 PUM1 HTT PCNT KLHL17	8.51e-16	1105	197	34	35748872
Pubmed	A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism.	TSC1 TSC2 HERC1	1.79e-07	3	197	3	32921582
Pubmed	The nogo receptor family restricts synapse number in the developing hippocampus.	RTN4R RTN4RL1 RTN4RL2	1.79e-07	3	197	3	22325200
Pubmed	TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase.	TSC1 TSC2 HERC1	1.79e-07	3	197	3	16464865
Pubmed	The TSC1 and TSC2 tumor suppressors are required for proper ER stress response and protect cells from ER stress-induced apoptosis.	TSC1 TSC2 RPTOR	1.79e-07	3	197	3	20616807
Pubmed	Agenesis of the corpus callosum in Nogo receptor deficient mice.	RTN4R RTN4RL1 RTN4RL2	1.79e-07	3	197	3	27339102
Pubmed	TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms.	TSC1 TSC2 SHH	1.79e-07	3	197	3	29396625
Pubmed	Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.	SPEG TSC1 FHIP1B SYNE1 RALGAPB PIP5K1C RPAP1 NISCH SLIT1 PUM1 AQR PCNT PDZD2	6.60e-07	407	197	13	12693553
Pubmed	Amyloid Beta Peptides Block New Synapse Assembly by Nogo Receptor-Mediated Inhibition of T-Type Calcium Channels.	RTN4R RTN4RL1 RTN4RL2	7.13e-07	4	197	3	29024660
Pubmed	Epilepsy- and intellectual disability-associated CYFIP2 interacts with both actin regulators and RNA-binding proteins in the neonatal mouse forebrain.	MYO9A NMRAL1 NIPBL CARMIL2 RALGAPB MAP1S PUM1 MYO16	1.70e-06	143	197	8	32560809
Pubmed	Metabolic stress controls mTORC1 lysosomal localization and dimerization by regulating the TTT-RUVBL1/2 complex.	TSC1 TSC2 RPTOR	1.78e-06	5	197	3	23142078
Pubmed	Structure and axon outgrowth inhibitor binding of the Nogo-66 receptor and related proteins.	RTN4R RTN4RL1 RTN4RL2	1.78e-06	5	197	3	12839991
Pubmed	Somatic cells initiate primordial follicle activation and govern the development of dormant oocytes in mice.	TSC1 RPTOR KIT	1.78e-06	5	197	3	25438940
Pubmed	A central chaperone-like role for 14-3-3 proteins in human cells.	CDKN2A TNK1 MYO9A TSC2 RPTOR RGL2 IRS4 CARMIL2 ESYT1 PPFIBP1 RALGAPB RAB11FIP1 SYDE1 TBC1D10B C2CD3 PUM1 EDRF1 AQR	2.28e-06	861	197	18	36931259
Pubmed	mTORC1 feedback to AKT modulates lysosomal biogenesis through MiT/TFE regulation.	TSC1 TSC2 RPTOR	3.54e-06	6	197	3	31527310
Pubmed	Regulation of TORC1 in response to amino acid starvation via lysosomal recruitment of TSC2.	TSC1 TSC2 RRAGB	3.54e-06	6	197	3	24529380
Pubmed	Steroidogenic factor 1 (SF-1; Nr5a1) regulates the formation of the ovarian reserve.	TSC1 TSC2 RPTOR KIT NR5A1	5.03e-06	44	197	5	37494420
Pubmed	The tuberous sclerosis complex regulates trafficking of glucose transporters and glucose uptake.	TSC1 TSC2 SLC2A4	6.16e-06	7	197	3	18511518
Pubmed	p38α senses environmental stress to control innate immune responses via mechanistic target of rapamycin.	TSC1 TSC2 PIK3R2	6.16e-06	7	197	3	23315073
Pubmed	The TSC-mTOR pathway mediates translational activation of TOP mRNAs by insulin largely in a raptor- or rictor-independent manner.	TSC1 TSC2 RPTOR	6.16e-06	7	197	3	19047368
Pubmed	LGI1 is a Nogo receptor 1 ligand that antagonizes myelin-based growth inhibition.	RTN4R RTN4RL1 RTN4RL2	6.16e-06	7	197	3	20463223
Pubmed	Cell-type-dependent regulation of mTORC1 by REDD1 and the tumor suppressors TSC1/TSC2 and LKB1 in response to hypoxia.	TSC1 TSC2 RPTOR	6.16e-06	7	197	3	21383064
Pubmed	Myelin-associated glycoprotein modulates apoptosis of motoneurons during early postnatal development via NgR/p75(NTR) receptor-mediated activation of RhoA signaling pathways.	RTN4R RTN4RL1 RTN4RL2	6.16e-06	7	197	3	26335717
Pubmed	LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling.	CDKN2A USP9X TSC2 SLC12A9 RPTOR COPG1 ESYT1 UBR4 USP24 HUWE1 SLC4A2 TBC1D10B RPAP1 CCN1 NISCH PUM1 CDC23 PPP6R3	7.83e-06	942	197	18	31073040
Pubmed	Prediction of the coding sequences of mouse homologues of FLJ genes: the complete nucleotide sequences of 110 mouse FLJ-homologous cDnas identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.	WDR81 ALS2CL INTS2 SH3TC1 ABCC10 RAB11FIP1	9.23e-06	85	197	6	15449545
Pubmed	NgR1 and NgR3 are receptors for chondroitin sulfate proteoglycans.	RTN4R RTN4RL1 RTN4RL2	9.82e-06	8	197	3	22406547
Pubmed	Two novel mammalian Nogo receptor homologs differentially expressed in the central and peripheral nervous systems.	RTN4R RTN4RL1 RTN4RL2	9.82e-06	8	197	3	14664809
Pubmed	Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.	VWA8 SSPOP CARNS1 TANGO6 CELSR3 MYO16 PDZD2	9.87e-06	130	197	7	12421765
Pubmed	Developmental expression of Smoc1 and Smoc2 suggests potential roles in fetal gonad and reproductive tract differentiation.	KIT SHH NR5A1	2.09e-05	10	197	3	19842175
Pubmed	Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity.	CDKN2A BRPF3 VWA8 PEX6 ABCA7 GJD4 ARID1B FBXO5 SH3TC1 PIK3R2 RPTOR ZNF574 GPBAR1 PRSS56 RAB11FIP1 TEP1 TBC1D10B THRA CDC23	2.17e-05	1116	197	19	31753913
Pubmed	Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism.	BRPF3 AP5S1 USP9X TSC1 TSC2 FBXO5 INTS2 SLC12A9 PIK3R2 DDX54 NIPBL ZNF574 DPH1 NELFA UBR4 RALGAPB DOLPP1 THRA HTT PPP6R3 PCNT	2.32e-05	1327	197	21	32694731
Pubmed	EDEM1 Drives Misfolded Protein Degradation via ERAD and Exploits ER-Phagy as Back-Up Mechanism When ERAD Is Impaired.	TSC1 TSC2 PIK3R2 RPTOR HERC1 MAP1S HTT	2.50e-05	150	197	7	32423001
Pubmed	Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.	BRPF3 ARID1B INTS2 PPFIBP1 SYNE1 RALGAPB	2.77e-05	103	197	6	10574462
Pubmed	Hamartin and tuberin immunohistochemical expression in cutaneous fibroepithelial polyps.	TSC1 TSC2	3.19e-05	2	197	2	15059224
Pubmed	Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.	TSC1 TSC2	3.19e-05	2	197	2	11112665
Pubmed	Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes.	TSC1 TSC2	3.19e-05	2	197	2	19175396
Pubmed	Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.	TSC1 TSC2	3.19e-05	2	197	2	36719021
Pubmed	Evidence for population variation in TSC1 and TSC2 gene expression.	TSC1 TSC2	3.19e-05	2	197	2	21345208
Pubmed	Positioning ganglioside D3 as an immunotherapeutic target in lymphangioleiomyomatosis.	TSC1 TSC2	3.19e-05	2	197	2	23665200
Pubmed	Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.	TSC1 TSC2	3.19e-05	2	197	2	29476190
Pubmed	Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.	TSC1 TSC2	3.19e-05	2	197	2	29932062
Pubmed	Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type.	TSC1 TSC2	3.19e-05	2	197	2	18368626
Pubmed	Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.	TSC1 TSC2	3.19e-05	2	197	2	11741833
Pubmed	TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.	TSC1 TSC2	3.19e-05	2	197	2	11741832
Pubmed	TSC1/2 mutations define a molecular subset of HCC with aggressive behaviour and treatment implication.	TSC1 TSC2	3.19e-05	2	197	2	27974549
Pubmed	Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.	TSC1 TSC2	3.19e-05	2	197	2	26408672
Pubmed	Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.	TSC1 TSC2	3.19e-05	2	197	2	25927202
Pubmed	Polymorphic variants in TSC1 and TSC2 and their association with breast cancer phenotypes.	TSC1 TSC2	3.19e-05	2	197	2	20658316
Pubmed	The mammalian Zip5 protein is a zinc transporter that localizes to the basolateral surface of polarized cells.	SLC39A5 SLC39A4	3.19e-05	2	197	2	15322118
Pubmed	Frequency of TSC1 and TSC2 mutations in American, British, Polish and Taiwanese populations.	TSC1 TSC2	3.19e-05	2	197	2	23846400
Pubmed	Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.	TSC1 TSC2	3.19e-05	2	197	2	17287951
Pubmed	Aspects of tuberous sclerosis complex (TSC) protein function in the brain.	TSC1 TSC2	3.19e-05	2	197	2	12773159
Pubmed	Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours.	TSC1 TSC2	3.19e-05	2	197	2	12773163
Pubmed	TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis.	TSC1 TSC2	3.19e-05	2	197	2	12773162
Pubmed	Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.	TSC1 TSC2	3.19e-05	2	197	2	34860161
Pubmed	Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.	TSC1 TSC2	3.19e-05	2	197	2	10533067
Pubmed	TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.	TSC1 TSC2	3.19e-05	2	197	2	19419980
Pubmed	Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.	TSC1 TSC2	3.19e-05	2	197	2	32103336
Pubmed	Loss of TSC1/TSC2 sensitizes immune checkpoint blockade in non-small cell lung cancer.	TSC1 TSC2	3.19e-05	2	197	2	35119931
Pubmed	The adaptive response to dietary zinc in mice involves the differential cellular localization and zinc regulation of the zinc transporters ZIP4 and ZIP5.	SLC39A5 SLC39A4	3.19e-05	2	197	2	15358787
Pubmed	Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.	TSC1 TSC2	3.19e-05	2	197	2	28065512
Pubmed	Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex.	TSC1 TSC2	3.19e-05	2	197	2	23254740
Pubmed	Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing.	TSC1 TSC2	3.19e-05	2	197	2	34573383
Pubmed	Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.	TSC1 TSC2	3.19e-05	2	197	2	27494029
Pubmed	Alterations to mTORC1 signaling in the skeletal muscle differentially affect whole-body metabolism.	TSC1 RPTOR	3.19e-05	2	197	2	27004103
Pubmed	Characterization of two novel proteins, NgRH1 and NgRH2, structurally and biochemically homologous to the Nogo-66 receptor.	RTN4RL1 RTN4RL2	3.19e-05	2	197	2	12694398
Pubmed	The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination.	TSC1 TSC2	3.19e-05	2	197	2	11175345
Pubmed	Giant cells: contradiction to two-hit model of tuber formation?	TSC1 TSC2	3.19e-05	2	197	2	16897363
Pubmed	Tsc1 expression by dendritic cells is required to preserve T-cell homeostasis and response.	TSC1 RPTOR	3.19e-05	2	197	2	28079897
Pubmed	Genetically engineered human cortical spheroid models of tuberous sclerosis.	TSC1 TSC2	3.19e-05	2	197	2	30127391
Pubmed	Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.	TSC1 TSC2	3.19e-05	2	197	2	29196670
Pubmed	Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.	TSC1 TSC2	3.19e-05	2	197	2	10570911
Pubmed	The TSC1 gene product, hamartin, negatively regulates cell proliferation.	TSC1 TSC2	3.19e-05	2	197	2	10915759
Pubmed	Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex.	TSC1 TSC2	3.19e-05	2	197	2	27859028
Pubmed	Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.	TSC1 TSC2	3.19e-05	2	197	2	28968464
Pubmed	Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia.	TSC1 TSC2	3.19e-05	2	197	2	34756499
Pubmed	Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum.	TSC1 TSC2	3.19e-05	2	197	2	29975249
Pubmed	Human intestinal anion exchanger isoforms: expression, distribution, and membrane localization.	SLC4A3 SLC4A2	3.19e-05	2	197	2	11248201
Pubmed	Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney.	TSC1 TSC2	3.19e-05	2	197	2	10807585
Pubmed	An Australian tuberous sclerosis cohort: are surveillance guidelines being met?	TSC1 TSC2	3.19e-05	2	197	2	21449900
Pubmed	Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.	TSC1 TSC2	3.19e-05	2	197	2	29926239
Pubmed	Tuberous sclerosis complex genes: from flies to human genetics.	TSC1 TSC2	3.19e-05	2	197	2	11686512
Pubmed	Somatic Bi-allelic Loss of TSC Genes in Eosinophilic Solid and Cystic Renal Cell Carcinoma.	TSC1 TSC2	3.19e-05	2	197	2	29941307
Pubmed	Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.	TSC1 TSC2	3.19e-05	2	197	2	34480426
Pubmed	Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex.	TSC1 TSC2	3.19e-05	2	197	2	23250422
Pubmed	Nogo-receptors NgR1 and NgR2 do not mediate regulation of CD4 T helper responses and CNS repair in experimental autoimmune encephalomyelitis.	RTN4R RTN4RL2	3.19e-05	2	197	2	22096481
Pubmed	USP9X deubiquitinates ALDH1A3 and maintains mesenchymal identity in glioblastoma stem cells.	USP9X ALDH1A3	3.19e-05	2	197	2	30958800
Pubmed	Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.	TSC1 TSC2	3.19e-05	2	197	2	32555378
Pubmed	First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.	TSC1 TSC2	3.19e-05	2	197	2	32313033
Pubmed	Abnormal growth of smooth muscle-like cells in lymphangioleiomyomatosis: Role for tumor suppressor TSC2.	TSC1 TSC2	3.19e-05	2	197	2	16424383
Pubmed	Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.	TSC1 TSC2	3.19e-05	2	197	2	32917966
Pubmed	[Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism].	TSC1 TSC2	3.19e-05	2	197	2	14756965
Pubmed	Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex.	TSC1 TSC2	3.19e-05	2	197	2	28178598
Pubmed	Signaling pathways: the benefits of good communication.	TSC1 TSC2	3.19e-05	2	197	2	15589136
Pubmed	[Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].	TSC1 TSC2	3.19e-05	2	197	2	26728384
Pubmed	Tuberous sclerosis complex: linking cancer to metabolism.	TSC1 TSC2	3.19e-05	2	197	2	20605525
Pubmed	Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia.	TSC1 TSC2	3.19e-05	2	197	2	32579942
Pubmed	A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells.	TSC1 TSC2	3.19e-05	2	197	2	11875047
Pubmed	Therapeutic targeting of cellular metabolism in cells with hyperactive mTORC1: a paradigm shift.	TSC1 TSC2	3.19e-05	2	197	2	25298408
Pubmed	Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.	TSC1 TSC2	3.19e-05	2	197	2	16554133
Interaction	TOP3B interactions	LRWD1 VWA8 SPEG PIEZO1 PEX6 TSC2 FHIP1B STK11IP ABCA7 SH3TC1 RPTOR HERC1 RGL2 ABCC10 DOCK3 MPP3 HSPG2 ESYT1 UBR4 HUWE1 FBXL19 TEP1 PIP5K1C CCNF C2CD3 CELSR3 RPAP1 MAP1S MROH6 NISCH TMEM268 PUM1 HTT PCNT KLHL17	3.18e-07	1470	190	35	int:TOP3B
Interaction	YWHAH interactions	CDKN2A TNK1 MYO9A NHSL2 SPEG LRRK2 TSC1 TSC2 RPTOR HERC1 RGL2 CFAP410 IRS4 CARMIL2 ESYT1 PPFIBP1 RALGAPB HUWE1 RAB11FIP1 SYDE1 CCNF TBC1D10B C2CD3 THRA PUM1 EDRF1 AQR HTT PCNT	5.15e-07	1102	190	29	int:YWHAH
Interaction	CA2 interactions	LRRK2 RPTOR RNF26 HUWE1 SLC4A3 SLC4A2 CCNF	6.26e-06	74	190	7	int:CA2
Interaction	GPR17 interactions	TSC2 RRAGB FHIP1B INTS2 SLC12A9 TONSL PPFIBP1 USP24 SLC39A4 SLC4A2 HTT CDC23	1.64e-05	283	190	12	int:GPR17
Interaction	YWHAG interactions	CDKN2A TNK1 MYO9A NHSL2 SPEG LRRK2 TSC1 TSC2 RPTOR RGL2 CFAP410 IRS4 CARMIL2 ESYT1 PPFIBP1 RALGAPB USP24 HUWE1 RAB11FIP1 SYDE1 CCNF TBC1D10B C2CD3 PUM1 EDRF1 AQR HTT PPP6R3	1.71e-05	1248	190	28	int:YWHAG
Interaction	RHOQ interactions	STK11IP PIK3R2 RPTOR IRS4 DSC3 COPG1 ESYT1 PPFIBP1 RALGAPB RAB11FIP1 SYDE1 SLC4A2 ARHGAP5 TBC1D10B NISCH	2.05e-05	442	190	15	int:RHOQ
Interaction	EDEM1 interactions	UBR1 TSC1 TSC2 PIK3R2 RPTOR HERC1 ESYT1 SHH MAP1S HTT	2.28e-05	202	190	10	int:EDEM1
Interaction	YWHAB interactions	CDKN2A TNK1 MYO9A SPEG LRRK2 TSC1 TSC2 RRAGB PIK3R2 RGL2 VWA2 CFAP410 IRS4 CARMIL2 NELFA ESYT1 PPFIBP1 RALGAPB RAB11FIP1 SYDE1 CCNF TBC1D10B PUM1 HTT	3.12e-05	1014	190	24	int:YWHAB
Interaction	C1orf87 interactions	LRRK2 HERC1 UBR4 PCNT	4.04e-05	21	190	4	int:C1orf87
Cytoband	17p13.3	WDR81 OR1E1 OR1E2 DPH1 BHLHA9 RTN4RL1	2.34e-06	88	197	6	17p13.3
Cytoband	Ensembl 112 genes in cytogenetic band chr17p13	TNK1 WDR81 OR1E1 OR1E2 DPH1 BHLHA9 RTN4RL1 SLC2A4 ALOXE3	2.09e-05	346	197	9	chr17p13
Cytoband	3p21.2	IQCF2 IQCF1 DOCK3	7.17e-05	19	197	3	3p21.2
Cytoband	Ensembl 112 genes in cytogenetic band chr3p21	IQCF2 MYL3 IQCF1 ALS2CL UBA7 DOCK3 CELSR3 NISCH	7.30e-05	316	197	8	chr3p21
Cytoband	Ensembl 112 genes in cytogenetic band chr1p36	PRAMEF10 HSPG2 PRAMEF33 RNF186 SPSB1 UBR4 PRAMEF20 SH2D5 HES4 KLHL17	7.81e-04	681	197	10	chr1p36
ToppCell	facs-Marrow-Granulocytes-3m-Myeloid-CD4+_macrophage\|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	MYO9A IRAG1 PPFIBP1 RTN4RL1 TEP1 NFE2L3 ARHGAP5 TMEM268	1.02e-06	172	197	8	2a4614b3d25e8c6b095e6992d8ca35371dcdb5e1
ToppCell	facs-Marrow-Granulocytes-3m-Myeloid-macrophage\|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	MYO9A IRAG1 PPFIBP1 RTN4RL1 TEP1 NFE2L3 ARHGAP5 TMEM268	1.02e-06	172	197	8	7fb31ccbcd0204c3612986a6bc20d57ed6825e9c
ToppCell	LPS-antiTNF-Stromal_mesenchymal-Myocytic-Myofibroblast\|LPS-antiTNF / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2	SPEG ANKMY1 IRAG1 ABCA7 DOCK3 SLC2A4 ASB16	1.28e-06	123	197	7	87401764a073c1808f214642a9c84299c78f7ec7
ToppCell	kidney_cells-Adult_normal_reference-Epithelial-Proximal_tubule_epithelial_cell-kidney_proximal_tubule_epithelial_cell-Adaptive_/_Maladaptive_/_Repairing_Proximal_Tubule_Epithelial_Cell\|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group	ERBB3 LRRK2 DLK1 QPCT PPFIBP1 UBR4 CITED4 PLA2G4C	2.51e-06	194	197	8	70185c0b8e0f4e896645b17a243482ba3cdf4a5d
ToppCell	Tracheal-NucSeq-Stromal-Myofibroblastic-Muscle_smooth_airway_ASM\|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations	SPEG IRAG1 DOCK3 SYNE1 SLC2A4 MOXD1 GSG1L DNAH11	2.93e-06	198	197	8	22e766df1276c5b14aa0d83f434f47140ebb98ea
ToppCell	Smart-start-Cell-Wel_seq-Neoplastic-Differentiated-like-MES-like-MES-like_hypoxia_independent-F\|Smart-start-Cell-Wel_seq / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group	CDKN2A PIEZO1 P4HA2 SLC4A2 TFR2 THBS3 CCN1 FER1L4	3.04e-06	199	197	8	85bb28369e0568b7b3bda095722102fc793f60ef
ToppCell	facs-Marrow-Granulocytes-18m-Hematologic-megakaryocyte-erythroid_progenitor_cell\|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	BRPF3 SLC39A5 SH3TC2 SLC4A3 SLC2A4 CCDC148 PRG2	7.35e-06	160	197	7	56e6f4b82b5dc41c45f9d253c2db314a6f702b84
ToppCell	PBMC-Severe-Myeloid-Neutrophil-Neutrophil-Neu_2\|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)	HK3 LRRK2 CCDC88B P4HA2 SYNE1 FPR1 CYP4F3	7.35e-06	160	197	7	76f49b8b4450fa8acd36326bfa36a5d1f4bd95fb
ToppCell	facs-Trachea-nan-18m-Myeloid-lymphocyte_of_B_lineage\|Trachea / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation	CDKN2A NMRAL1 PIDD1 CARNS1 DOCK3 CD19 PRG2	7.35e-06	160	197	7	5c9281706009558c8361bfa76169f43ffc0f7947
ToppCell	PBMC-Severe-Myeloid-Neutrophil-Neutrophil-Neu_2\|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.09)	HK3 LRRK2 CCDC88B P4HA2 SYNE1 FPR1 CYP4F3	7.35e-06	160	197	7	bb1bb3673059768c0ea0160d29fff127f3a4ecb4
ToppCell	facs-Marrow-Granulocytes-18m-Hematologic-megakaryocyte-erythroid_progenitor_cell\|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	BRPF3 SLC39A5 SH3TC2 SLC4A3 SLC2A4 CCDC148 PRG2	7.35e-06	160	197	7	bb1b966fb9e801db15e67d03e49db4609d6f935a
ToppCell	3'-Parenchyma_lung-Epithelial-Alveolar_epithelium-type_I_pneumocyte-AT1-AT1_L.0.5.1.0\|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5	MYO9A ABCA7 MPP3 HSPG2 RAB11FIP1 CCN1 ASB16	1.05e-05	169	197	7	cd16e8462ee09877be962fbd9a3badcb825820b0
ToppCell	356C-Myeloid-Monocyte-CD16+_Monocyte\|Monocyte / Donor, Lineage, Cell class and subclass (all cells)	IRAG1 ARID1B INTS2 PPFIBP1 SOWAHD DOLPP1 THRA	1.18e-05	172	197	7	9dca1542145d88559527db7e0f6ad150df59ca2d
ToppCell	3'-Child04-06-SmallIntestine-Epithelial-neuro-epithelial-N_cells_(NTS+)\|Child04-06 / Celltypes from developing, pediatric, Crohn's, & adult GI tract	QPCT KCNS2 GPBAR1 DPH1 CYP4F3 GSG1L EPHA10	1.22e-05	173	197	7	f31e738c2b3b319fb40b0b16b2393a51c9a8999c
ToppCell	Somatosensory_Cortex_(S1)-Neuronal-Glutamatergic_Excit-Glut_E_(THEMIS)-Glut_IT_L5/L6_Car3_THEMIS-Exc_L5-6_THEMIS_GPR21\|Somatosensory_Cortex_(S1) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	NHSL2 MEI1 MOXD1 SLIT1 A4GNT GSG1L RTN4RL2	1.27e-05	174	197	7	0df738309b7b6e77675ea74e7a87e66601b0073d
ToppCell	primary_auditory_cortex_(A1C)-Neuronal-Glutamatergic_Excit-Glut_E_(THEMIS)-Glut_IT_L5/L6_Car3_THEMIS\|primary_auditory_cortex_(A1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	NHSL2 MEI1 MOXD1 SLIT1 A4GNT GSG1L RTN4RL2	1.37e-05	176	197	7	de746cdf2c777eec88cb03863e128e97ad6e8fb0
ToppCell	Somatosensory_Cortex_(S1)-Neuronal-Glutamatergic_Excit-Glut_E_(THEMIS)-Glut_IT_L5/L6_Car3_THEMIS\|Somatosensory_Cortex_(S1) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	NHSL2 MEI1 MOXD1 SLIT1 A4GNT GSG1L RTN4RL2	1.42e-05	177	197	7	64fbf799e7b0c4003b2f486cc41b0f7e7c11ea0c
ToppCell	droplet-Lung-3m-Mesenchymal-fibroblast-adventitial_fibroblast-adventitial_fibroblast_l25\|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype	EVC QPCT ALDH1A3 SPSB1 THBS3 RPAP1 SCARA5	1.58e-05	180	197	7	c4068fe47408cfd899131a85fa4b7e5908926f94
ToppCell	(01)_Cycling_Basal_(homeostasis)-(4)_1wkpi\|(01)_Cycling_Basal_(homeostasis) / shred by cell type and Timepoint	DUSP23 SEMA5B IRS4 FPR1 PLA2G4C GSG1L	1.73e-05	122	197	6	b2a070939c0660c82a1130ef423fd627e9e087ab
ToppCell	renal_papilla_nuclei-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell\|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group	MYO9A LRRK2 EVC SYNE1 CCDC148 PDZD2 DNAH11	1.95e-05	186	197	7	f0c8de4f6ae9047b9108a47a2af8c5f42bc103b0
ToppCell	10x_5'_v1-Non-neoplastic-Myeloid-Mono-Mono_naive\|10x_5'_v1 / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group	HK3 NHSL2 LRRK2 MTMR11 GPBAR1 FPR1 HAL	2.02e-05	187	197	7	e99bc27d212c74da37770297122a4b30445ccd0d
ToppCell	10x_5'_v1-Non-neoplastic-Myeloid-Mono-Mono_naive-Z\|10x_5'_v1 / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group	HK3 NHSL2 LRRK2 MTMR11 GPBAR1 FPR1 HAL	2.02e-05	187	197	7	3b1439018e265a61d9599e307a202e3c2f60ed32
ToppCell	kidney_cells-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell-Descending_Thin_Limb_Cell_Type_1\|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group	MYO9A LRRK2 EVC ALDH1A3 PPFIBP1 SYNE1 GSG1L	2.02e-05	187	197	7	9225caf66e06ebe57e90d677122acb6498607f36
ToppCell	droplet-Lung-LUNG-1m-Mesenchymal-bronchial_smooth_muscle_cell\|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation	SPEG IRAG1 DOCK3 DSC3 SLC2A4 THBS3 GSG1L	2.16e-05	189	197	7	4dc32b463546bbe7250dddd281b92ad17ec22da1
ToppCell	droplet-Lung-LUNG-1m-Mesenchymal-Airway_Smooth_Muscle\|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation	SPEG IRAG1 DOCK3 DSC3 SLC2A4 THBS3 GSG1L	2.16e-05	189	197	7	0d06bf0d7191d13a1c4f30a7881e7ea1093bfd6f
ToppCell	Children_(3_yrs)-Epithelial-alveolar_epithelial_cell_type_1-D032\|Children_(3_yrs) / Lineage, Cell type, age group and donor	ALS2CL MPP3 PPFIBP1 RAB11FIP1 CCN1 MYO16 PDZD2	2.24e-05	190	197	7	30b50d183d7649146eb1e79b47ba897355f1998a
ToppCell	Monocytes-Inflammatory_CD16+_macrophages\|World / Immune cells in Kidney/Urine in Lupus Nephritis	HK3 IRAG1 MTMR11 GPBAR1 FPR1 IFNGR2 HES4	2.39e-05	192	197	7	4be5c2c946337cd3e710137726358adca563f146
ToppCell	kidney_cells-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell\|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group	MYO9A LRRK2 EVC ALDH1A3 PPFIBP1 SYNE1 HES4	2.47e-05	193	197	7	0f2167eef8203a5659c8c72e4e77646003d64797
ToppCell	kidney_cells-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell-Descending_Thin_Limb_Cell_Type_2\|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group	MYO9A LRRK2 EVC ALDH1A3 PPFIBP1 HES4 DNAH11	2.47e-05	193	197	7	ffa1932da2979d7b63dbac32eb5788346a3f5b2a
ToppCell	10x5'v1-week_17-19-Myeloid_neutrophil-granulo-neutrophil-neutrophil\|week_17-19 / cell types per 3 fetal stages;per 3',per 5'	HK3 LRRK2 FHIP1B QPCT FPR1 RAB11FIP1 CYP4F3	2.56e-05	194	197	7	e2d0dfb92356fa7ad7008aa8ac4198e2ac5d2495
ToppCell	distal-Hematologic-Plasma-1\|distal / Location, Lineage, Cell class (ontology) and Donor from 10X sequencing (macrophage renamed)	NUP210L CARNS1 MEI1 MOXD1 CD19 FER1L4 PNMA6A	2.73e-05	196	197	7	8201aded3c7109fae5e6ca12bac2076acc7bf070
ToppCell	distal-1-Hematologic-Plasma\|1 / Location, Lineage, Cell class (ontology) and Donor from 10X sequencing (macrophage renamed)	QPCT CARNS1 MEI1 MOXD1 CD19 FER1L4 PNMA6A	2.82e-05	197	197	7	f5499bfa9dbc111f12563b7006bc45c2423ad0cd
ToppCell	remission-Classical_Monocyte\|World / disease stage, cell group and cell class	LRRK2 MTMR11 QPCT GPBAR1 FPR1 RAB11FIP1 IFNGR2	2.91e-05	198	197	7	056b8745e753b1a500cf58d09a2ebf38707e1357
ToppCell	10x3'2.3-week_12-13-Myeloid_neutrophil-granulo-neutrophil-myelocyte\|week_12-13 / cell types per 3 fetal stages;per 3',per 5'	LRRK2 CCDC88B QPCT GPBAR1 FPR1 UBR4 CYP4F3	2.91e-05	198	197	7	c65103828a4755fcf3c0776c60d8ada1f0ad5278
ToppCell	Tracheal-NucSeq-Stromal-Myofibroblastic\|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations	SPEG IRAG1 DOCK3 SYNE1 SLC2A4 MOXD1 DNAH11	2.91e-05	198	197	7	c12e7511628db819a52959bb68580e27c00c2e41
ToppCell	Brain_organoid-organoid_Tanaka_cellReport-10w-Mesenchymal-Mesoderm\|10w / Sample Type, Dataset, Time_group, and Cell type.	WDR81 FHIP1B QPCT DSC3 SPSB1 MEI1 MAP1S	3.11e-05	200	197	7	9ef226ebb0a7cdb9431e2fa65faa2a7d67da590d
ToppCell	kidney_cells-Renal_AKI_(acute_kidney_injury)-Epithelial-Proximal_tubule_epithelial_cell-kidney_proximal_tubule_epithelial_cell-Adaptive_/_Maladaptive_/_Repairing_Proximal_Tubule_Epithelial_Cell\|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group	ERBB3 DUSP23 QPCT PPFIBP1 UBR4 CITED4 CCN1	3.11e-05	200	197	7	105564ee05bd11685b5747ee32d5350cf3c2e2e1
ToppCell	facs-Liver-Non-hepatocytes-3m-Myeloid-Kupffer_cell\|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation	HK3 ALS2CL PLA2G10 FPR1 CCDC148 CELSR3	5.96e-05	152	197	6	b61d2f6ee819c8dd4b4b601a8bc8388b1983de58
ToppCell	390C-Myeloid-Macrophage-SPP1+_Macrophage_2\|390C / Donor, Lineage, Cell class and subclass (all cells)	HK3 PIEZO1 MTMR11 UBR4 IFNGR2 KLHL17	6.64e-05	155	197	6	15bacd06cc2b02b13c85bb71c5b758e5ff613e80
ToppCell	3'-GW_trimst-1-LargeIntestine-Mesenchymal-fibroblastic-Stromal_2_(NPY+)\|GW_trimst-1 / Celltypes from developing, pediatric, Crohn's, & adult GI tract	RTN4R WDR81 NEU3 SH3TC2 OCA2 SCARA5	7.13e-05	157	197	6	1e3a4a7193d95f09d71c2dfe704b8e626c6d9624
ToppCell	Striatum-Neuronal-Inhibitory\|Striatum / BrainAtlas - Mouse McCarroll V32	PIP5KL1 KIT SHH MOXD1 ASB16 EPHA10	7.13e-05	157	197	6	c41ff3fe9de7187575114febfe9bd8733366fb8a
ToppCell	10x5'-bone_marrow-Mast\|bone_marrow / Manually curated celltypes from each tissue	MYO15B KIT HSPG2 REXO5 PRG2 HAL	7.64e-05	159	197	6	c3d3570e83c5d25cc92fa3a7a8f0dc2f89a72913
ToppCell	cellseq2-Epithelial-Epithelial_Neuro-Secretory-Ionocyte\|cellseq2 / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2	EVC KIT RNF186 C2CD3 TMTC4 PNMA6A	7.91e-05	160	197	6	9049707a4487f2337a17976ceb5fbd8815ab9e1d
ToppCell	cellseq2-Epithelial-Epithelial_Neuro-Secretory-Ionocyte-Ionocyte\|cellseq2 / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2	EVC KIT RNF186 C2CD3 TMTC4 PNMA6A	7.91e-05	160	197	6	f2cfec54cf48a655f473b830be7d141c54b521ff
ToppCell	cellseq2-Epithelial-Epithelial_Neuro-Secretory\|cellseq2 / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2	EVC KIT RNF186 C2CD3 TMTC4 PNMA6A	7.91e-05	160	197	6	0eb50b3c494e1b65d40104b3b5411b57bb72b959
ToppCell	10x5'-bone_marrow-Mast-Mast_cells\|bone_marrow / Manually curated celltypes from each tissue	MYO15B KIT HSPG2 REXO5 PRG2 HAL	8.19e-05	161	197	6	15ba7e69699558353cfeecdcf1dbc2e147379ed6
ToppCell	Frontal_cortex-Neuronal-Inhibitory-iN1(Gad1Gad2_Th)-Sst\|Frontal_cortex / BrainAtlas - Mouse McCarroll V32	IRS4 DSC3 MOXD1 TMTC4 CFAP46	8.62e-05	101	197	5	cf52c93f523c5f25bd45519a1444ce7bd1d8b577
ToppCell	facs-Trachea-18m-Hematologic-lymphocytic-B_cell\|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype	NMRAL1 PIDD1 CARNS1 DOCK3 CD19 PRG2	9.06e-05	164	197	6	4274a4f225cabf61f0fe27d8ea162b4eba612f87
ToppCell	facs-Trachea-18m-Hematologic-lymphocytic-B_cell-B_cell_of_the_trachea\|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype	NMRAL1 PIDD1 CARNS1 DOCK3 CD19 PRG2	9.06e-05	164	197	6	d62143450f59097ad4b34603a6257f897a769ead
ToppCell	LPS-antiTNF-Stromal_mesenchymal-Fibroblasts-MatrixFB_->_Myofibroblast\|LPS-antiTNF / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2	DLK1 ALS2CL CPT1C ALDH1A3 COPG1 DOLPP1	9.37e-05	165	197	6	15fd9d21dccfa80656a6fa3b72286a6a9252d403
ToppCell	PND01-Mesenchymal-Mesenchymal_myocytic-Myofibroblast_airway-ASMC-ASMC_mature\|PND01 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif	MYL3 IRAG1 MTMR11 CPT1C ASB10 ZFHX2	9.69e-05	166	197	6	390cf5e56b72fcaf3b8520930bd35a3e3e173711
ToppCell	PND01-Mesenchymal-Mesenchymal_myocytic-Myofibroblast_airway-ASMC\|PND01 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif	MYL3 IRAG1 MTMR11 CPT1C ASB10 ZFHX2	9.69e-05	166	197	6	9a341dc7b756252caeaac1e934384911c880a634
ToppCell	facs-Brain_Non-Myeloid-Hippocampus_-18m-Neuronal\|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation	RTN4R RTN4RL1 CELSR3 SLIT1 ALOXE3 RTN4RL2	1.00e-04	167	197	6	95b3b5ba3414729f0460a26a0deca48de0cbe33e
ToppCell	droplet-Pancreas-Endocrine-21m-Epithelial-nan\|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation	SEMA5B PIP5KL1 MIEF2 COPG1 PLA2G4C NISCH	1.00e-04	167	197	6	b94e8ee8c3fcebedd8fcd719eadddc04c7513c50
ToppCell	facs-Brain_Non-Myeloid-Hippocampus_-18m-Neuronal-neuron\|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation	RTN4R RTN4RL1 CELSR3 SLIT1 ALOXE3 RTN4RL2	1.00e-04	167	197	6	3dfec2fcc36caa6e394efae5e540a6fa28759977
ToppCell	Children_(3_yrs)-Mesenchymal-chondrocyte-D139\|Children_(3_yrs) / Lineage, Cell type, age group and donor	LCN12 ALDH1A3 CFAP410 OPLAH HAL CFAP46	1.00e-04	167	197	6	f4943fb5001475ddab82a0273bcbb3fa68fdd7bd
ToppCell	facs-Brain_Non-Myeloid-Hippocampus_-18m-Neuronal-nan\|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation	RTN4R RTN4RL1 CELSR3 SLIT1 ALOXE3 RTN4RL2	1.00e-04	167	197	6	9480739587d51e67a281778b9bddd7b5ffc3ad92
ToppCell	BAL-Control-cDC_6\|Control / Compartment, Disease Groups and Clusters	LINGO3 KIT COPG1 NELFA SPSB1 PNMA6A	1.03e-04	168	197	6	65ec473cff748b334c0a66e33bc34a8465fe7631
ToppCell	facs-Aorta-Heart-24m-Mesenchymal-fibroblast_of_cardiac_tissue\|Aorta / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation	DLK1 LTB4R2 ASB10 RNF186 SLC22A12 MOXD1	1.07e-04	169	197	6	daed9083ee05c220365200328c2c50047fe21efd
ToppCell	facs-Marrow-KLS-3m-Hematologic-Unknown_Progenitor\|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	EVC SSPOP GPBAR1 P4HA2 SLC39A4 PRG2	1.07e-04	169	197	6	b798b91567d2f49082e2d8a337169f241c8d2080
ToppCell	renal_medulla_nuclei-Adult_normal_reference-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell-Descending_Thin_Limb_Cell_Type_3\|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group	MYO9A LRRK2 EVC ALDH1A3 PPFIBP1 DNAH11	1.10e-04	170	197	6	5d5f208682be21ed58320f5fc083a7898f8712da
ToppCell	E12.5-Mesenchymal-developing_mesenchymal_cell-mesenchymal_immature_unknown_1\|E12.5 / developmental_time, Lineage, Cell group, Cell type, Cell type_cellcyc-phase	PIEZO1 KIT OPLAH TANGO6 DPH1 HSPG2	1.18e-04	172	197	6	3b9be685fcd1634498a603b692f5ac6ddd0de176
ToppCell	primary_auditory_cortex_(A1C)-Neuronal-Glutamatergic_Excit-Glut_E_(THEMIS)-Glut_IT_L5/L6_Car3_THEMIS-Exc_L6_THEMIS_C6orf48\|primary_auditory_cortex_(A1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	NHSL2 MEI1 MOXD1 A4GNT GSG1L RTN4RL2	1.22e-04	173	197	6	8bc916ccf687df0341ec1d77d62844bf890cad47
ToppCell	facs-Liver-Liver_non-hepato/SCs_st-18m-Myeloid\|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation	CDKN2A HK3 MYO9A FPR1 TEP1 CCDC148	1.25e-04	174	197	6	b487c5c46f074a69b9526a2c72daf218f66aa44b
ToppCell	facs-Liver-Liver_non-hepato/SCs_st-18m-Myeloid-nan\|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation	CDKN2A HK3 MYO9A FPR1 TEP1 CCDC148	1.25e-04	174	197	6	3533a47885af453d97739e5576e989d93d31be32
ToppCell	343B-Lymphocytic-NK_cells-NK_cell_D3\|Lymphocytic / Donor, Lineage, Cell class and subclass (all cells)	CDKN2A QPCT RGL2 SOWAHD DOLPP1 THBS3	1.25e-04	174	197	6	e5f12831187140e84b9a49e93b2376b9fefb1aec
ToppCell	droplet-Marrow-nan-3m-Lymphocytic-NK_cell\|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	LRRK2 CCDC88B KIT SYNE1 NISCH PDZD2	1.29e-04	175	197	6	cf53a15bfb37b6019e7052ffdf594a9ac040900e
ToppCell	facs-Skin-Anagen-24m-Epithelial-outer_bulge\|Skin / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation	GJD4 ASB10 EXOC3L4 HSPG2 MOXD1 CFAP46	1.29e-04	175	197	6	5552ff1e13f931c8cd7780726c90b5609497a648
ToppCell	3'_v3-lymph-node_spleen-Hematopoietic_progenitors-HSC-MPP\|lymph-node_spleen / Manually curated celltypes from each tissue	KCNE5 DLK1 NDN VWA2 REXO5 SLC2A4	1.33e-04	176	197	6	32ed5623b8809b9f1aaf7a42dff9807d9376e9c2
ToppCell	facs-Marrow-KLS-18m-Lymphocytic-late_pro_B_cell\|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	SSPOP SLC12A9 APEX2 SYDE1 SLIT1 DNAH11	1.33e-04	176	197	6	aa1bada2175d8370fc71939a607407155259d195
ToppCell	droplet-Liver-LIVER_HEP-30m-Myeloid-Kupffer_cell\|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation	HK3 MYO9A CCDC88B BHLHA9 SLC4A3 NFE2L3	1.33e-04	176	197	6	5e46a09a36b9645b1b1fcb0b64bd0898561af3a9
ToppCell	facs-Marrow-KLS-18m-Lymphocytic-late_pro-B_cell\|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	SSPOP SLC12A9 APEX2 SYDE1 SLIT1 DNAH11	1.33e-04	176	197	6	3766e0533b103ec92ac75eba3df02e287efc53fa
ToppCell	343B-Lymphocytic-NK_cells-NK_cell_D3\|NK_cells / Donor, Lineage, Cell class and subclass (all cells)	CDKN2A QPCT RGL2 SOWAHD DOLPP1 THBS3	1.33e-04	176	197	6	bd5c85b3a4fb88ffe156599f6d224aa7664a513a
ToppCell	renal_medulla_nuclei-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell\|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group	MYO9A LRRK2 EVC PPFIBP1 SYNE1 DNAH11	1.33e-04	176	197	6	327a3e81b724252e36d786de92a3ffd721ea6d7b
ToppCell	facs-Heart-RV-24m-Mesenchymal-ventricular_myocyte\|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation	MYL3 RTN4R MYO18B CITED4 NR5A1 CFAP46	1.38e-04	177	197	6	692cd03bf0958ebeec34d41bfe87713a768e9a8e
ToppCell	droplet-Liver-LIVER_HEP-30m-Myeloid-Kupffer_cell\|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation	HK3 MYO9A CCDC88B BHLHA9 SLC4A3 NFE2L3	1.38e-04	177	197	6	14fb8d182775dfd0e49aa7e4e12543a85b3b8bd6
ToppCell	facs-Heart-RV-24m-Mesenchymal-ventricular_cardiomyocyte\|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation	MYL3 RTN4R MYO18B CITED4 NR5A1 CFAP46	1.38e-04	177	197	6	c08583ea68bbeb6b5de852a46b0c0f04792dae55
ToppCell	Fetal_29-31_weeks-Mesenchymal-vascular_smooth_muscle_cell-D150\|Fetal_29-31_weeks / Lineage, Cell type, age group and donor	KCNE5 IRAG1 SEMA5B CARNS1 CCN1 HES4	1.42e-04	178	197	6	066dbc4cc2083c549d98122ed44707127f34d582
ToppCell	COVID-19_Mild-Hematopoietic_SC-HSPC\|COVID-19_Mild / Disease group, lineage and cell class	NDN KIT HSPG2 PPFIBP1 TFR2 PDZD2	1.46e-04	179	197	6	19fcf48f5e02e4cb2b328efb4502f337e1282f72
ToppCell	PBMC-Mild-Hematopoietic-HSPC-HSPC-\|Mild / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)	NDN KIT HSPG2 PPFIBP1 TFR2 PDZD2	1.46e-04	179	197	6	4bb2debfc9e9f258cd38e797ef160bd440aad6af
ToppCell	COVID-19_Mild-Hematopoietic_SC\|COVID-19_Mild / Disease group, lineage and cell class	NDN KIT HSPG2 PPFIBP1 TFR2 PDZD2	1.46e-04	179	197	6	50a073166e34bcfa52a62c4dafb3aef724e0fa8e
ToppCell	PBMC-Mild-Hematopoietic-HSPC\|Mild / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)	NDN KIT HSPG2 PPFIBP1 TFR2 PDZD2	1.46e-04	179	197	6	2f690f933bf6b99abeb31766e0b22bdbe36c1ba0
ToppCell	PBMC-Mild-Hematopoietic-HSPC-HSPC\|Mild / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)	NDN KIT HSPG2 PPFIBP1 TFR2 PDZD2	1.46e-04	179	197	6	3e2c937369b8190fd5d5a31689d029e6e89fb5e2
ToppCell	AT1_cells-Donor_08\|World / lung cells shred on cell class, cell subclass, sample id	ALS2CL ABCA7 MPP3 HSPG2 RAB11FIP1 CCN1	1.51e-04	180	197	6	2d52cb5f77dde0e3dccac1333d4ec67ec680fcb2
ToppCell	PBMC-Mild-Hematopoietic-HSPC-HSPC-\|Mild / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.09)	NDN KIT HSPG2 PPFIBP1 TFR2 PDZD2	1.55e-04	181	197	6	e7f7b519c2a01c15f26df11ec9b434c0d1630c7a
ToppCell	PBMC-Mild-Hematopoietic-HSPC-HSPC\|Mild / Location, Disease Group, Cell group, Cell class (2021.03.09)	NDN KIT HSPG2 PPFIBP1 TFR2 PDZD2	1.55e-04	181	197	6	54a19cf6a3b752e2391feb8b316bebee0e602d17
ToppCell	PBMC-Mild-Hematopoietic-HSPC\|Mild / Location, Disease Group, Cell group, Cell class (2021.03.09)	NDN KIT HSPG2 PPFIBP1 TFR2 PDZD2	1.55e-04	181	197	6	5b84625b1d3737708001b64f6da9360330d39a27
ToppCell	Primary_Visual_cortex_(V1C)-Neuronal-Glutamatergic_Excit-Glut_E_(THEMIS)-Glut_IT_L5/L6_Car3_THEMIS\|Primary_Visual_cortex_(V1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types	NHSL2 PPFIBP1 MEI1 SLIT1 GSG1L RTN4RL2	1.55e-04	181	197	6	13270b6ba6a9c8e5681c6f40000c643ce1d9344a
ToppCell	renal_papilla_nuclei-Adult_normal_reference-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell\|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group	MYO9A LRRK2 EVC PPFIBP1 CCDC148 PDZD2	1.55e-04	181	197	6	9d782ba5cf5a172cb4f447763fc50e5b13ef7dd9
ToppCell	10x5'-bone_marrow-Mast-Mast_cell_lympho\|bone_marrow / Manually curated celltypes from each tissue	NEU3 STK11IP KIT HSPG2 PRG2 HAL	1.55e-04	181	197	6	56fa77ae31f3b7de6e441a439c33a11353b6573a
ToppCell	facs-Skin-Skin_Anagen-18m-Epithelial-actively_dividing_stem_cell\|Skin / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation	FBXO5 APEX2 CARNS1 SLC2A4 CCNF CELSR3	1.60e-04	182	197	6	bc6a120dedc813c58baac1428c39851a07b71ba7
ToppCell	facs-Marrow-T_cells-18m-Lymphocytic-pre_B_cell\|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	DDX54 VWA2 MPP3 SH3TC2 CD19 FER1L4	1.65e-04	183	197	6	bc24145855bf4d027a8058bf92bc796c10f241bb
ToppCell	facs-Marrow-T_cells-18m-Lymphocytic-precursor_B_cell\|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	DDX54 VWA2 MPP3 SH3TC2 CD19 FER1L4	1.65e-04	183	197	6	4c325ee6da070513097a11445ec95b0415ffd8a2
ToppCell	Striatum-Macroglia-POLYDENDROCYTE-P1-P1_1\|Striatum / BrainAtlas - Mouse McCarroll V32	ERBB3 SSPOP SH3TC2 NFE2L3 THBS3	1.66e-04	116	197	5	c19974992b315fb873664fe3f5077ff8e907e30c
ToppCell	Adult-Epithelial-alveolar_epithelial_cell_type_1-D122\|Adult / Lineage, Cell type, age group and donor	ALS2CL MPP3 PPFIBP1 RAB11FIP1 MYO16 PDZD2	1.70e-04	184	197	6	561592edc3083fad41b91811151b442207c65dd9
ToppCell	Children_(3_yrs)-Epithelial-alveolar_epithelial_cell_type_1\|Children_(3_yrs) / Lineage, Cell type, age group and donor	ALS2CL MPP3 PPFIBP1 RAB11FIP1 MYO16 PDZD2	1.75e-04	185	197	6	1c222f7285d6e3dae0354dc7e853ddc0ea55e63e
ToppCell	LV-15._Ventricular_Cardiomyocyte_III\|World / Chamber and Cluster_Paper	MYL3 VWA8 MYO18B MPP3 PPFIBP1 PDZD2	1.75e-04	185	197	6	6baccb26f999145e51b91d94315bf8d4655bef31
ToppCell	systemic_lupus_erythematosus-managed-Hematopoietic-progenitor_cell-male\|systemic_lupus_erythematosus / PBMC cell types (v2) per disease, treatment status, and sex	DLK1 NDN KIT REXO5 SLC2A4 TFR2	1.75e-04	185	197	6	2c07991e0907ded67e21ab2e66be21695842ed01
ToppCell	pdx-Tumor_cells-T0\|Tumor_cells / Sample and Cell Type and Tumor Cluster (all cells)	ERBB3 SLC39A5 CERS4 RTN4RL1 TFR2 PUM1	1.75e-04	185	197	6	1d874608aa2062024323512f68889219471b2f00
ToppCell	TCGA-Prostate-Primary_Tumor-Prostate_Adenocarcinoma-Acinar_Adenocarcinoma\|TCGA-Prostate / Sample_Type by Project: Shred V9	ERBB3 CERS4 LENG9 MRPL17 TMTC4 EPHA10	1.75e-04	185	197	6	9d53e0a92e4f99370be2e4be1dd737630796b1ca
Disease	Polydactyly	USP9X EVC PIK3R2 BHLHA9 SHH BBS10 C2CD3	9.77e-06	117	186	7	C0152427
Disease	LYMPHANGIOLEIOMYOMATOSIS	TSC1 TSC2	3.95e-05	2	186	2	606690
Disease	TUBEROUS SCLEROSIS 1 (disorder)	TSC1 TSC2	3.95e-05	2	186	2	C1854465
Disease	uterine carcinosarcoma (is_marker_for)	CDKN2A KIT	3.95e-05	2	186	2	DOID:6171 (is_marker_for)
Disease	tuberous sclerosis (is_implicated_in)	TSC1 TSC2	3.95e-05	2	186	2	DOID:13515 (is_implicated_in)
Disease	Lymphangiomyomatosis	TSC1 TSC2	3.95e-05	2	186	2	cv:C0751674
Disease	putamen volume change measurement	MRPL17 DCHS1 MYO16	6.73e-05	13	186	3	EFO_0021495
Disease	Fibrous skin tumor of tuberous sclerosis	TSC1 TSC2	1.18e-04	3	186	2	C0265319
Disease	Focal Cortical Dysplasia of Taylor, Type IIb	TSC1 TSC2	1.18e-04	3	186	2	C1846389
Disease	FOCAL CORTICAL DYSPLASIA OF TAYLOR	TSC1 TSC2	1.18e-04	3	186	2	C1846385
Disease	Focal Cortical Dysplasia of Taylor, Type IIa	TSC1 TSC2	1.18e-04	3	186	2	C1846386
Disease	Tuberous sclerosis syndrome	TSC1 TSC2	1.18e-04	3	186	2	cv:C0041341
Disease	Isolated focal cortical dysplasia type II	TSC1 TSC2	1.18e-04	3	186	2	cv:C1846385
Disease	FOCAL CORTICAL DYSPLASIA, TYPE II	TSC1 TSC2	1.18e-04	3	186	2	607341
Disease	Tuberous Sclerosis	TSC1 TSC2	1.18e-04	3	186	2	C0041341
Disease	lymphangioleiomyomatosis (is_implicated_in)	TSC1 TSC2	1.18e-04	3	186	2	DOID:3319 (is_implicated_in)
Disease	CCL2 measurement	MYL3 RTN4R ALS2CL ABCA7 DUSP23 CITED4	1.52e-04	126	186	6	EFO_0004749
Disease	Nasopharyngeal carcinoma	CDKN2A ERBB3 SYNE1	3.47e-04	22	186	3	C2931822
Disease	tuberous sclerosis (implicated_via_orthology)	TSC1 TSC2	3.90e-04	5	186	2	DOID:13515 (implicated_via_orthology)
Disease	Lymphangioleiomyomatosis	TSC1 TSC2	3.90e-04	5	186	2	C0751674
Disease	Symptomatic Infantile Spasms	TSC1 TSC2	5.83e-04	6	186	2	C0393699
Disease	Cryptogenic Infantile Spasms	TSC1 TSC2	5.83e-04	6	186	2	C0393698
Disease	leiomyosarcoma (is_marker_for)	CDKN2A KIT	5.83e-04	6	186	2	DOID:1967 (is_marker_for)
Disease	procollagen C-endopeptidase enhancer 1 measurement	TFR2 DNAH11	5.83e-04	6	186	2	EFO_0801920
Disease	2,3-dihydroxy-5-methylthio-4-pentenoate (DMTPA) measurement	PEX6 CARNS1	5.83e-04	6	186	2	EFO_0800111
Disease	Hypsarrhythmia	TSC1 TSC2	5.83e-04	6	186	2	C0684276
Disease	Salaam Seizures	TSC1 TSC2	5.83e-04	6	186	2	C1527366
Disease	renal cell carcinoma (implicated_via_orthology)	CDKN2A TSC2	5.83e-04	6	186	2	DOID:4450 (implicated_via_orthology)
Disease	Nodding spasm	TSC1 TSC2	5.83e-04	6	186	2	C0546878
Disease	spasmus nutans	TSC1 TSC2	5.83e-04	6	186	2	C1527306
Disease	Jackknife Seizures	TSC1 TSC2	5.83e-04	6	186	2	C0553558
Disease	Ciliopathies	EVC TSC1 TSC2 BBS10 DNAH11	6.76e-04	110	186	5	C4277690
Disease	Constipation	GPBAR1 THRA	8.13e-04	7	186	2	C0009806
Disease	remission	RPTOR HSPG2	8.13e-04	7	186	2	EFO_0009785
Disease	atrioventricular septal defect (implicated_via_orthology)	CCN1 DNAH11	8.13e-04	7	186	2	DOID:0050651 (implicated_via_orthology)
Disease	Thymic Carcinoma	CDKN2A KIT	8.13e-04	7	186	2	C0205969
Disease	Ovarian Mucinous Adenocarcinoma	ERBB3 SPEG LRRK2	9.73e-04	31	186	3	C1335167
Disease	lymphatic vessel endothelial hyaluronic acid receptor 1 measurement	IRAG1 SLC2A4	1.08e-03	8	186	2	EFO_0020539
Disease	Adult Hepatocellular Carcinoma	TSC1 TSC2	1.38e-03	9	186	2	C0279607
Disease	propionylcarnitine measurement	CARNS1 P4HA2	1.38e-03	9	186	2	EFO_0020942
Disease	neuroblastoma (is_implicated_in)	CDKN2A ARID1B	1.72e-03	10	186	2	DOID:769 (is_implicated_in)
Disease	Colorectal Carcinoma	HK3 GJD4 GDAP1L1 SH3TC1 OR1E2 VWA2 IRS4 SYNE1 RPAP1 PRG2 DCHS1 EDRF1	1.74e-03	702	186	12	C0009402
Disease	hepatocyte growth factor-like protein measurement	ALS2CL DOCK3 CELSR3	1.77e-03	38	186	3	EFO_0008154
Disease	thioredoxin domain-containing protein 12 measurement	IQCF1 DOCK3 CELSR3	1.91e-03	39	186	3	EFO_0008298
Disease	granulosa cell tumor (is_marker_for)	CDKN2A KIT	2.09e-03	11	186	2	DOID:2999 (is_marker_for)
Disease	complement C1q tumor necrosis factor-related protein 5 measurement	RNF26 P4HA2	2.09e-03	11	186	2	EFO_0801494
Disease	basal cell carcinoma (is_implicated_in)	SHH OCA2	2.50e-03	12	186	2	DOID:2513 (is_implicated_in)
Disease	Gastric Adenocarcinoma	ERBB3 SPEG EPHA10	2.88e-03	45	186	3	C0278701
Disease	sunburn	ARID1B CARNS1 OCA2 HAL	3.23e-03	96	186	4	EFO_0003958
Disease	skin melanoma (is_implicated_in)	CDKN2A OCA2	3.42e-03	14	186	2	DOID:8923 (is_implicated_in)
Disease	biliary atresia (is_marker_for)	DLK1 SHH	3.42e-03	14	186	2	DOID:13608 (is_marker_for)
Disease	Malignant neoplasm of breast	CDKN2A ERBB3 HK3 ALS2CL ARID1B SEMA5B KIT NIPBL DSC3 SYNE1 UBR4 OCA2 THBS3 TMTC4 NISCH	3.45e-03	1074	186	15	C0006142
Disease	alopecia areata	ERBB3 CCDC88B FPR1	3.89e-03	50	186	3	EFO_0004192
Disease	Neoplasm of uncertain or unknown behavior of bladder	ERBB3 TSC1	3.93e-03	15	186	2	C0496930
Disease	Benign neoplasm of bladder	ERBB3 TSC1	3.93e-03	15	186	2	C0154017
Disease	Carcinoma in situ of bladder	ERBB3 TSC1	3.93e-03	15	186	2	C0154091
Disease	anemia (implicated_via_orthology)	SLC4A3 SLC4A2	3.93e-03	15	186	2	DOID:2355 (implicated_via_orthology)
Disease	intracerebral hemorrhage	DPH1 RTN4RL1	4.47e-03	16	186	2	EFO_0005669
Disease	myopia (is_implicated_in)	SLC39A5 P4HA2	4.47e-03	16	186	2	DOID:11830 (is_implicated_in)
Disease	cathepsin L1 measurement	LRRK2 PIK3R2	4.47e-03	16	186	2	EFO_0010619
Disease	urate measurement	MYO9A IQCF1 CPT1C PIP5KL1 MYO18B CERS4 DOCK3 P4HA2 SHH SLC22A12 THBS3 NISCH NR5A1	4.60e-03	895	186	13	EFO_0004531
Disease	cortical thickness	PRR23A ERBB3 NUP210L IRAG1 ARID1B MIEF2 ABCC10 GPBAR1 HSPG2 P4HA2 PPFIBP1 SHH THBS3 MYO16 PDZD2	4.78e-03	1113	186	15	EFO_0004840
Disease	Mouth Neoplasms	CDKN2A TSC1 TSC2	4.83e-03	54	186	3	C0026640
Disease	Malignant neoplasm of mouth	CDKN2A TSC1 TSC2	4.83e-03	54	186	3	C0153381
Disease	melanoma	CDKN2A CPT1C QPCT ALDH1A3 KIT UBR4	5.01e-03	248	186	6	C0025202
Disease	Familial Progressive Myoclonic Epilepsy	NHLRC1 TSC1	5.05e-03	17	186	2	C0751777
Disease	Atypical Inclusion-Body Disease	NHLRC1 TSC1	5.05e-03	17	186	2	C0751776
Disease	Myoclonic Epilepsies, Progressive	NHLRC1 TSC1	5.05e-03	17	186	2	C0751778
Disease	Biotin-Responsive Encephalopathy	NHLRC1 TSC1	5.05e-03	17	186	2	C0751780
Disease	May-White Syndrome	NHLRC1 TSC1	5.05e-03	17	186	2	C0751782
Disease	Dentatorubral-Pallidoluysian Atrophy	NHLRC1 TSC1	5.05e-03	17	186	2	C0751781
Disease	Carcinoma of bladder	ERBB3 TSC1	5.66e-03	18	186	2	C0699885
Disease	Action Myoclonus-Renal Failure Syndrome	NHLRC1 TSC1	5.66e-03	18	186	2	C0751779
Disease	acetone measurement	VWA8 SLC2A4	6.30e-03	19	186	2	EFO_0010989
Disease	Chronic myeloproliferative disorder	KIT PCNT	6.30e-03	19	186	2	C1292778
Disease	Osteochondrodysplasias	HSPG2 THRA	6.30e-03	19	186	2	C0029422
Disease	anorectal malformation	LTB4R2 KLHL17	6.30e-03	19	186	2	MONDO_0019938

Protein segments in the cluster

Peptide	Gene	Start	Entry
DLLRHTRGLSKLGLE	PRAMEF33	396	A0A0G2JMD5
LLLLRGADRVLQAHI	ALS2CL	86	Q60I27
DHILAILALRRLGRQ	EXOC3L4	661	Q17RC7
LAIGSLDHAHIVRLL	ERBB3	761	P21860
LTLEDVPSGRLHLRL	ESYT1	751	Q9BSJ8
RSLLELRRTLAHGAV	SLC4A2	371	P04920
LRRTLAHGAVLLDLD	SLC4A2	376	P04920
LLELRRTIAHGAALL	SLC4A3	371	P48751
LLLIAGLTRERGLLH	CDC23	36	Q9UJX2
ANLLRIGSLVLLLHD	CERS4	226	Q9HA82
HRGRNVLTAILLLLR	CFAP410	211	O43822
RFELALREAGLHRTL	CCDC148	551	Q8NFR7
NLLLRTRLGEAHAEL	CCDC88B	391	A6NC98
IHRIAALSLVLRASP	BHLHA9	111	Q7RTU4
LFLSRARTLRHLGLA	CARMIL2	456	Q6F5E8
ARALALVVTLLHLTR	CCN1	6	O00622
VAARLGHVELADLLL	ASB10	221	Q8WXI3
RGRALLAVALNLLAL	GSG1L	6	Q6UXU4
SALRAVFHLARLGAL	GPR25	261	O00155
GLEALLSHRRGIVFL	A4GNT	41	Q9UNA3
LDALSRGRLLHQLAD	ALDH1A3	91	P47895
LQHLARLAVRARLGS	ASB16	411	Q96NS5
IRARLLGLAGRALHL	CFAP46	1951	Q8IYW2
ALHDRGLLRLNLLEE	CARNS1	761	A5YM72
ATTLADLLALRLHRV	DNAH11	1426	Q96DT5
HRAAVRLRDLGGAIL	BRPF3	676	Q9ULD4
LLHEGRLLDISISAV	ARID1B	2286	Q8NFD5
ILLSLVRTRAVGHLR	AQR	1271	O60306
EGTLRLLTRLLLDHL	AP5S1	136	Q9NUS5
RAEALLAAGSHVIIL	APEX2	181	Q9UBZ4
ALLRVLLLLLAFGHS	DLK1	6	P80370
LEHLESRLRALGLSF	DPH1	306	Q9BZG8
LLSRNGGRLLEALHL	BBS10	46	Q8TAM1
LLTGREHLELLARLR	ABCA7	1881	Q8IZY2
GLELTDASLRLLLRH	FBXL19	581	Q6PCT2
GTFRGLVNLDRLLLH	RTN4RL1	191	Q86UN2
LSHLFLHGNRLRLLT	RTN4RL2	181	Q86UN3
LRLLTEHVFRGLGSL	RTN4RL2	191	Q86UN3
EHVFRGLGSLDRLLL	RTN4RL2	196	Q86UN3
IALRTSGHLLLGVVR	RAD21L1	51	Q9H4I0
LGKVLALEHLLARRL	OCA2	576	Q04671
LALLLHGRLLAVTHG	HSPG2	11	P98160
HRRVVGTLHLLLLVA	QPCT	6	Q16769
GTLVRRALLHAALSA	IQCF1	81	Q8N6M8
FTLADVLLGATLHRL	GDAP1L1	266	Q96MZ0
AAAGLRGLVRLLHVR	LRWD1	366	Q9UFC0
LRHGPVREALLTLLD	FHIP1B	146	Q8N612
SLLAAIAGELHRLRG	ABCC10	641	Q5T3U5
LALAALVLGLVRARS	DCHS1	2951	Q96JQ0
LLARLLGVHSLRVDR	PIP5KL1	181	Q5T9C9
LLDGLVRLQHLRFLR	MAP1S	441	Q66K74
RHVLSLGLLAVAFLV	DOLPP1	136	Q86YN1
LLADLARRLGLHYVV	NMRAL1	96	Q9HBL8
LLLGTLHLPRRTVDE	NELFA	56	Q9H3P2
RDLAARNILLTHGRI	KIT	791	P10721
GRLRHHVLSLALAGL	NTSR2	66	O95665
SLADVQLAHLRLRAL	MTMR11	311	A4FU01
RHTSRLAVLRISLLG	LCN12	136	Q6JVE5
AELRHVLATLGERLT	MYL3	151	P08590
LRALHLVEDLRGLLE	PPFIBP1	46	Q86W92
LLRRHLATHFNLLIG	PPFIBP1	861	Q86W92
LAAILHLGDIRFTAL	MYO16	666	Q9Y6X6
FLSLLANLLLVHGER	GPBAR1	96	Q8TDU6
VLLVERAGRRTLHLL	SLC2A4	341	P14672
AVHRIGRTLLLDELD	EDRF1	146	Q3B7T1
RCTAELGELLLLRVH	ALOXE3	56	Q9BYJ1
TLLSRLLLELHHRGN	KCNE5	11	Q9UJ90
LGLLGSLVRALHDQR	FER1L4	206	A9Z1Z3
LRLEALHQILVLLSG	HERC1	1636	Q15751
LRTRLLALHVLEAVL	HERC1	1951	Q15751
LDLHLFLGRSLTLAR	DDX54	451	Q8TDD1
HLLLRTLLEAAFGAL	GJD4	146	Q96KN9
LLEDIAVLHRLAARL	IRAG1	591	Q9Y6F6
LHLTLALLRLAGAGE	LENG9	361	Q96B70
LLVGLSHEEAVAILR	PDZD2	391	O15018
RLSILRALTAHLPLG	PEX6	601	Q13608
HLTLLLSLAGLRVDL	NFE2L3	16	Q9Y4A8
QELGGLHSALLRLLA	INTS2	701	Q9H0H0
TRLGRLLLCHSREAI	KCNS2	41	Q9ULS6
AELLLSLLGRLLVHQ	NIPBL	1581	Q6KC79
GGHILLLDLSTRRLI	LRRK2	2431	Q5S007
HLRSLGALRLRHLAI	LINGO3	196	P0C6S8
GALRLRHLAIASLED	LINGO3	201	P0C6S8
RDLVRLRELHLAGAL	LINGO3	291	P0C6S8
LRELHLAGALLAVVE	LINGO3	296	P0C6S8
LRALRALHLDGNRLT	LRFN3	106	Q9BTN0
RAALRVLSALALEHA	MROH6	171	A6NGR9
RQAGLRERAATLLHL	EPHA10	401	Q5JZY3
ILRVHRRGILELAGT	PLA2G10	36	O15496
LGEIVRHILLHLTSL	HK3	756	P52790
RHILLHLTSLGVLFR	HK3	761	P52790
TLLRLRGRLLLDHEA	HUWE1	3171	Q7Z6Z7
RGRLLLDHEALSCLL	HUWE1	3176	Q7Z6Z7
RDTVLKLLLNGARHL	HUWE1	3616	Q7Z6Z7
AVHGLELEALRLSLS	PCNT	241	O95613
FLLILQRLLVEHGAS	MEI1	886	Q5TIA1
GNLLIILLIRLDSHL	OR1J4	41	Q8NGS1
GFALSLVHEILLLRL	OR2A2	151	Q6IF42
ALAERIRGHVLSLAL	PUM1	916	Q14671
GDLHRALELTRRLLS	P4HA2	221	O15460
DVQLLAVSHRGLRLL	MYO15B	1341	Q96JP2
LLALLFGAVSALHLR	PRG2	6	P13727
LHRALTLRFLLQHLG	PIK3R2	216	O00459
IGHLIFARLLRLQES	PLA2G4C	276	Q9UP65
GALIFTLHVALRLLL	CPT1C	116	Q8TCG5
LDTLVVLHRAGARLD	CDKN2A	91	P42771
HCALRGLERLLLSEQ	HTT	2876	P42858
LAIGIHELAAISERR	HAL	456	P42357
VRLPLLSRDFLLGHV	KLHL17	281	Q6TDP4
RLALLGRTHSVRIII	C2CD3	531	Q4AC94
ELIDLRRQLLSGHLT	DOCK3	121	Q8IZD9
LHLLLTLVIFSRAGE	DSC3	16	Q14574
RLAAAALLLARLTHG	CCNF	451	P41002
SLVGILHLQRALVLR	CD19	306	P15391
ILSELFRRGLRHVLA	FBXO5	246	Q9UKT4
LALIDRLISHGADIL	ANKMY1	751	Q9P2S6
RSRLLGHLAACLRQL	HES4	136	Q9HCC6
VTLRLRAELGALHSA	IFNGR2	111	P38484
GTLVRRTLLHAALRA	IQCF2	56	Q8IXL9
LLLSLALLGARARAE	C4orf48	21	Q5BLP8
VLGLTLLRFRVLPDH	CYP4F3	481	Q08477
GGHDILVRSRLLLLD	COPG1	836	Q9Y678
QGHDLLLRSALRRLA	EVC	636	P57679
DVRVTARLLAHLLAF	CELSR3	2226	Q9NYQ7
ALLLLSHLGRRPTLA	SLC22A12	396	Q96S37
QLLLRRHAGLLDGLA	SCARA5	196	Q6ZMJ2
VLHLIELLGSALRQS	NHLRC1	86	Q6VVB1
LHRLLLLFLVLRGTL	NUP210L	21	Q5VU65
LAGLRSLRLLVLHSN	PIDD1	236	Q9HB75
GITGLSLDRSRLHLL	PIDD1	541	Q9HB75
ELRSLAHTLLGLLRN	PRSS56	396	P0CW18
GNLLIIVLIRLDSHL	OR1E2	41	P47887
GSLLALAHVVLILRL	OR2A1;	151	Q8NGT9
ELLCRADHGLLLERA	ISL2	136	Q96A47
LLTLLSARRHLGLVP	IRS4	351	O14654
RLVVLIGSLGARLHE	MPP3	386	Q13368
GNLLIIVLIRLDSHL	OR1E1	41	P30953
ALEDLRARLLGLVLH	NRAC	131	Q8N912
RARLLGLVLHLRHVA	NRAC	136	Q8N912
DDHDAGTRRRLLLLL	MIEF2	346	Q96C03
AARRLAAHLLLLALL	RNF186	151	Q9NXI6
RAFRGLHSLDRLLLH	RTN4R	196	Q9BZR6
RATLTLLLDHLRLVS	SYDE1	526	Q6ZW31
VLILRGNELRSLHGL	STK11IP	236	Q8N1F8
SLSDHLLRAVLNLLR	USP9X	2151	Q93008
RLRAGTLEALVRHLL	RGL2	91	O15211
ATLQLTVLHRALLGL	RAB11FIP1	86	Q6WKZ4
GSLLHSLVLRAQELV	NR5A1	341	Q13285
RERLLLTAAHLLFVA	SHH	261	Q15465
SILRVSLDGHTLILI	PRR23A	86	A6NEV1
LRRAGLFLLLSTHLG	SSPOP	1106	A2VEC9
RLKGSLLELQRALHD	SYNE1	6171	Q8NF91
ARGRPLAATLVLHLA	LTB4R2	51	Q9NPC1
RDVSHLAALSLLRQL	NHSL2	26	Q5HYW2
LEDLEGHLLALGRRT	NHSL2	51	Q5HYW2
VALLVTRGFRDLLHI	OPLAH	96	O14841
RGERLLLHIGIIDIL	PIP5K1C	386	O60331
RLIHALPASLERALT	FPR1	311	P21462
ALALLRRDVLGAFLL	SH2D5	306	Q6ZV89
AALLHAGLSVRQALL	SLC39A4	546	Q6P5W5
VLDGLDALLTHRVRL	PRAMEF20	81	Q5VT98
HLGRGVLLSLLALIE	RNF26	56	Q9BY78
ARVLGELSARLLSIH	SH3TC1	121	Q8TE82
CFLAIRLLLSLGRHE	SH3TC2	636	Q8TF17
RLLLSLGRHEEVLPF	SH3TC2	641	Q8TF17
ALGVIRSLHSLGRLE	MRI1	181	Q9BV20
LLASSLLQLDHGRLR	ARHGAP5	571	Q13017
LVHDFALRRGLRLDV	SOWAHD	166	A6NJG2
LSQVHRLRALDLLGR	RPTOR	441	Q8N122
LRGTALQLVHALLAE	PNMA6A	201	P0CW24
GLDLLHRLLLLDHSL	SLC39A5	136	Q6ZMH5
ALTSLELELGLHRVR	CITED4	141	Q96RK1
EDALHLVLRRGLRIG	NEU3	51	Q9UQ49
RLAAANGALLRHRVL	TMEM268	166	Q5VZI3
RLHLAPRASLLAALL	TMTC4	141	Q5T4D3
RLSILSLLGHVIRLQ	TSC1	86	Q92574
EVLLSGREALASHLR	ZFHX2	2501	Q9C0A1
HGERDLLLRSVLPAL	TEP1	911	Q99973
VLLHAHLAGRGIRLR	MOXD1	386	Q6UVY6
GRLLLRAEGERHTLL	SPEG	766	Q15772
LRVRILLHGSALLYA	UBA7	941	P41226
RLALGRERLGEIHTL	SPSB1	246	Q96BD6
LKLHTALRELRLAGN	TONSL	1066	Q96HA7
VLVGHSLDLDLRALK	REXO5	306	Q96IC2
LAFGTEALLLAHRRA	ZNF574	371	Q6ZN55
SLIGASRILHALARD	SLC12A9	361	Q9BXP2
LRHVASLRGSAIIEL	NISCH	1131	Q9Y2I1
RHARARELLLLGVGS	VWA2	466	Q5GFL6
LSRTLAGLHVRLSRL	UBR1	611	Q8IWV7
RRAAIHVVVLLLRGL	TANGO6	1016	Q9C0B7
DLLRHTRGLSKLGLE	PRAMEF10	396	O60809
IIFRVALVLLRHTLG	TBC1D10B	551	Q4KMP7
RLGATILDRIHSLQI	RRAGB	71	Q5VZM2
LRILHSARALFVGLR	SEMA5B	531	Q9P283
LAVLIRLARHSLESA	RPAP1	566	Q9BWH6
GLADGRTHTVLLRLR	THBS3	116	P49746
AGLLIRSIHLVTQRL	RALGAPB	756	Q86X10
RVQLAGFHILEALRL	MYO18B	1241	Q8IUG5
GIRAGDLLLRHSALR	USP24	2296	Q9UPU5
LVHRDLATRNLLLAS	TNK1	241	Q13470
QRLLELLHRSGILHA	THRA	441	P10827
SHLARALTRALALAL	PLBD2	11	Q8NHP8
RALLGLSLLFLVAHL	PIEZO1	61	Q92508
RVLAVTLLALAGIAH	PIEZO1	201	Q92508
TLLLIFLHRAAELLA	TREX2	196	Q9BQ50
VILLLDTTGRALHRL	VWA8	1191	A3KMH1
LAFQGLRSLRLLSLH	SLIT1	826	O75093
HTLLSLVRLTGDLIV	UBR4	1286	Q5T4S7
LRHILVSQGLIRELF	UBR4	3896	Q5T4S7
LEAIRGRLGSFHELL	PPP6R3	306	Q5H9R7
LGALLDHLRLLRSNS	TFR2	741	Q9UP52
RHLLLGSDNGVIRLL	WDR81	1926	Q562E7
DFLLLLRADSLHRLG	TSC2	616	P49815
IHLLRNLLTGLVRHE	MRPL17	26	Q9NRX2
LLDLGVRHLVSLTER	DUSP23	31	Q9BVJ7
RRQIFSLLSAILHLG	MYO9A	416	B2RTY4
RRTSLILARVFGLHL	NDN	141	Q99608
ILARVFGLHLRLTSL	NDN	146	Q99608