Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyBiologicalProcesscentral nervous system development

MYCN ABL1 NKX6-2 MYCBP2 CIC GDPD5 TTBK2 PTPRZ1 AFDN RECK MRTFA CCDC14 PLXNA3 FLNA HNF1B XRN2 SAMD4B XRCC1 MED1 TFAP2C SHANK3 WDR47 SPTBN4 MSX1 TENM4 BBS7 CHRD IRS2 ATIC HYDIN SEZ6

5.41e-07119720031GO:0007417
GeneOntologyBiologicalProcesshead development

ABL1 CIC GDPD5 TTBK2 AFDN DIAPH3 MRTFA CCDC14 PLXNA3 FLNA HNF1B XRN2 SAMD4B XRCC1 MED1 TFAP2C SHANK3 WDR47 MSX1 BBS7 CHRD IRS2 ATIC HYDIN SEZ6

3.24e-0691920025GO:0060322
GeneOntologyBiologicalProcessbrain development

ABL1 CIC GDPD5 TTBK2 AFDN MRTFA CCDC14 PLXNA3 FLNA HNF1B XRN2 SAMD4B XRCC1 MED1 TFAP2C SHANK3 WDR47 MSX1 BBS7 CHRD IRS2 ATIC HYDIN SEZ6

3.30e-0685920024GO:0007420
GeneOntologyBiologicalProcesspositive regulation of synapse structural plasticity

FRMPD4 CAMK1 SHANK3

3.57e-0642003GO:0051835
GeneOntologyBiologicalProcessregulation of synapse structural plasticity

FRMPD4 PPP1R9A CAMK1 SHANK3

4.00e-06122004GO:0051823
GeneOntologyBiologicalProcessregulation of cytoskeleton organization

SYNPO2 ABL1 MYCBP2 TTBK2 FMN1 CLTC PKD1 DIAPH3 SHANK1 PLXNA3 FLNA RASA1 PPP1R9A SHANK3 WDR47 SPTBN4 CEP295

5.24e-0557920017GO:0051493
GeneOntologyBiologicalProcesshomophilic cell adhesion via plasma membrane adhesion molecules

PSG3 TRO HMCN2 PKD1 ROBO4 PCDHGB5 PCDHB14 HMCN1 CDH16

9.09e-051872009GO:0007156
DomainNUT

NUTM2G NUTM1 NUTM2F

1.19e-0552003IPR024310
DomainNUT_N

NUTM2G NUTM1 NUTM2F

1.19e-0552003IPR024309
DomainNUT

NUTM2G NUTM1 NUTM2F

1.19e-0552003PF12881
DomainPDZ

SYNPO2 FRMPD4 MPDZ MAST4 AFDN SHANK1 PPP1R9A SHANK3 SNTB1

2.14e-051412009PF00595
DomainPDZ

SYNPO2 FRMPD4 MPDZ MAST4 AFDN SHANK1 PPP1R9A SHANK3 SNTB1

3.14e-051482009SM00228
Domain-

SYNPO2 FRMPD4 MPDZ MAST4 AFDN SHANK1 PPP1R9A SHANK3 SNTB1

3.50e-0515020092.30.42.10
DomainPDZ

SYNPO2 FRMPD4 MPDZ MAST4 AFDN SHANK1 PPP1R9A SHANK3 SNTB1

3.68e-051512009PS50106
DomainPDZ

SYNPO2 FRMPD4 MPDZ MAST4 AFDN SHANK1 PPP1R9A SHANK3 SNTB1

3.88e-051522009IPR001478
Domainzf-3CxxC

ZCCHC24 RTP4 ZAR1L

6.51e-0582003SM01328
DomainZnf-3CxxC

ZCCHC24 RTP4 ZAR1L

6.51e-0582003IPR027377
DomainLgl_C

STXBP5L STXBP5

1.14e-0422002PF08596
DomainUBN_middle_dom

UBN2 UBN1

1.14e-0422002IPR026947
DomainHUN

UBN2 UBN1

1.14e-0422002PF08729
DomainHRD

UBN2 UBN1

1.14e-0422002IPR014840
DomainLgl_C_dom

STXBP5L STXBP5

1.14e-0422002IPR013905
DomainUBN_AB

UBN2 UBN1

1.14e-0422002PF14075
DomainCalpain_cysteine_protease

CAPN5 CAPN7 CAPN15

4.04e-04142003IPR022684
DomainPeptidase_C2

CAPN5 CAPN7 CAPN15

5.01e-04152003PF00648
DomainCysPc

CAPN5 CAPN7 CAPN15

5.01e-04152003SM00230
DomainPeptidase_C2_calpain_cat

CAPN5 CAPN7 CAPN15

5.01e-04152003IPR001300
DomainCALPAIN_CAT

CAPN5 CAPN7 CAPN15

5.01e-04152003PS50203
DomainLLGL

STXBP5L STXBP5

6.75e-0442002PF08366
DomainG2F

HMCN2 HMCN1

6.75e-0442002PF07474
DomainFERM_f0

SHANK1 SHANK3

6.75e-0442002PF16511
DomainNIDOGEN_G2

HMCN2 HMCN1

6.75e-0442002PS50993
DomainGFP

HMCN2 HMCN1

6.75e-0442002IPR009017
DomainLethal2_giant

STXBP5L STXBP5

6.75e-0442002IPR000664
DomainFERM_f0

SHANK1 SHANK3

6.75e-0442002IPR032425
DomainREJ

PKD1L2 PKD1

6.75e-0442002PS51111
DomainREJ_dom

PKD1L2 PKD1

6.75e-0442002IPR014010
DomainG2_nidogen/fibulin_G2F

HMCN2 HMCN1

6.75e-0442002IPR006605
DomainLLGL2

STXBP5L STXBP5

6.75e-0442002IPR013577
DomainAbhydrolase_6

PPME1 ABHD14B

1.12e-0352002PF12697
DomainGal_Lectin

PKD1L2 ADGRL3

1.12e-0352002PF02140
DomainLectin_gal-bd_dom

PKD1L2 ADGRL3

1.12e-0352002IPR000922
DomainSUEL_LECTIN

PKD1L2 ADGRL3

1.12e-0352002PS50228
Pubmed

Large-scale characterization of HeLa cell nuclear phosphoproteins.

MYCN MYCBP2 MAP4 ZFPM1 CIC UBN1 ZC3H4 CLTC DKC1 AFDN DMWD MRTFA FLNA XRN2 EP400 TCOF1 SAMD4B PHRF1 MED1 URGCP KANSL3 KMT2D IRS2 ZMYM3 SON

5.98e-127742042515302935
Pubmed

A dual-activity topoisomerase complex regulates mRNA translation and turnover.

ABL1 MYCBP2 ZNF395 ZFPM1 EXTL3 ZNF236 STK11IP CIC RYR1 GDPD5 UBN1 PER2 PKD1 DMWD BAHCC1 PLXNA3 FLNA CRYBG2 EP400 TSNARE1 ZNF503 KANSL3 KMT2D SSU72 IRS2 ULK2

2.03e-0911052042635748872
Pubmed

Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity.

ABCA12 TCP11L1 SUCLG1 ZC3H3 MYEF2 HMCN2 ZC3H4 SCO1 BAHCC1 ACTR8 EP400 TCOF1 TAF1C PHRF1 NTPCR ZBTB9 RNF213 SLC4A1 C1orf226 WDR6 CEP295 IRS2 CRYBG3 ZMYM3 CDH16 SON

2.50e-0911162042631753913
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.

FRMPD4 TRO PER2 CLTC ADGRL3 EP400 STXBP5 PPP1R9A DENND11 WDR47 TENM4 ULK2 ZMYM3 SON

1.52e-074072041412693553
Pubmed

SRCAP complex promotes lung cancer progression by reprograming the oncogenic transcription of Hippo-YAP/TAZ signaling pathway.

MYCBP2 MAP4 MPDZ UBN2 CLTC AFDN RPRD2 DIAPH3 FLNA EP400 LIMD1 TCOF1 MED1 KMT2D WDR6 NAA30

1.84e-075492041638280479
Pubmed

Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators.

ELP5 MYCBP2 PSMD4 CIC PTPRZ1 CLTC PYCR1 PPME1 DMWD CCDC14 VRK2 PPP1R9A RNF213 XRCC1 KMT2D C1orf226 FAM171A2 SSU72 EIF2AK4 CRYBG3 TNS1 SNTB1

2.80e-0710492042227880917
Pubmed

A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

MAP4 ZC3H4 DKC1 AFDN RPRD2 MRTFA FLNA XRN2 TCOF1 SAMD4B TOPBP1 MED1 USP5 IRS2 SON

3.37e-075032041516964243
Pubmed

H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids.

ZNF395 UBN2 CIC UBN1 DKC1 RPRD2 CASP8AP2 XRN2 VRK2 ACTR8 EP400 TCOF1 BAZ2B TAF1C PHRF1 TOPBP1 XRCC1 MED1 TFAP2C KANSL3 KMT2D PTRH2 ZMYM3 SON

7.10e-0712942042430804502
Pubmed

Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing.

ENDOD1 MYCBP2 MAP4 VPS13C ZNF236 UBN2 TASOR2 SCP2 RPRD2 MMP16 RECK NSUN5P1 RASA1 LIMD1 EPB41L4B STXBP5L SOBP TSNARE1 PPP1R9A SAMD4B RNF213 FAM117B KANSL3 SPTBN4 EIF2AK4 GLIS1

7.33e-0714892042628611215
Pubmed

Comprehensive Interactome Mapping of the DNA Repair Scaffold SLX4 Using Proximity Labeling and Affinity Purification.

UBN2 UBN1 PIAS3 RPRD2 EP400 BAZ2B TOPBP1 ZBTB9 MCM9 ZNF518B

8.58e-072222041037071664
Pubmed

The Nse5/6-like SIMC1-SLF2 complex localizes SMC5/6 to viral replication centers.

MAP4 UBN2 CIC TASOR2 UBN1 ZC3H4 CLTC DKC1 AFDN RPRD2 FLNA XRN2 EP400 BAZ2B NTPCR TOPBP1 ZBTB9 XRCC1 MED1 SON

1.01e-069542042036373674
Pubmed

Pro-prion, as a membrane adaptor protein for E3 ligase c-Cbl, facilitates the ubiquitination of IGF-1R, promoting melanoma metastasis.

MYCN PSMD4 CIC MYEF2 AFAP1L1 UBN1 RPRD2 MMP16 CCDC14 COL4A4 TAF1C SAMD4B XRCC1 SHANK3 URGCP SEZ6

3.57e-066892041636543142
Pubmed

Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.

VPS13C MYEF2 ALPK3 MRTFA CASP8AP2 KANSL3 TENM4 EIF2AK4

3.65e-06153204810718198
Pubmed

Protein interactome reveals converging molecular pathways among autism disorders.

MYCBP2 PSMD4 TASOR2 DLGAP3 FBLN2 PIAS3 PYCR1 RPRD2 SHANK1 FLNA PLEKHA4 SHANK3 SPTBN4 CHRD

6.45e-065602041421653829
Pubmed

A Degradation Motif in STAU1 Defines a Novel Family of Proteins Involved in Inflammation.

MYCBP2 MAP4 UBN2 ZC3H4 DKC1 DIAPH3 NRDE2 FLNA LIMD1 EPB41L4B TAF1C MED1 SYTL4 WDR6 NAA30 SON

6.64e-067242041636232890
Pubmed

A human MAP kinase interactome.

HDAC9 SYNPO2 PSMD4 EXTL3 CIC PIAS3 CLTC SHANK1 CCDC14 CASP8AP2 FLNA VRK2 TNS1

6.78e-064862041320936779
Pubmed

Proximity-dependent biotin identification (BioID) reveals a dynamic LSD1-CoREST interactome during embryonic stem cell differentiation.

MYCBP2 CIC DIAPH3 MRTFA CASP8AP2 FLNA ZBTB9 KMT2D WDR6 IRS2 CRYBG3 ZMYM3

7.62e-064182041234709266
Pubmed

An antibody-based proximity labeling map reveals mechanisms of SARS-CoV-2 inhibition of antiviral immunity.

MYCBP2 VPS13C MPDZ AFAP1L1 RPRD2 VRK2 EP400 RNF149 RNF213 XRCC1 ZNF503 SYTL4 WDR6 BBS7 CEP295 ATIC

7.75e-067332041634672954
Pubmed

Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription.

MYCBP2 MAP4 MYEF2 TASOR2 CLTC AFDN FLNA XRN2 TCOF1 PHRF1 USP5 WDR6 ATIC ZMYM3 SON

8.24e-066532041522586326
Pubmed

PRISMA and BioID disclose a motifs-based interactome of the intrinsically disordered transcription factor C/EBPα.

MYCBP2 MAP4 UBN2 CIC CLTC SCP2 PPME1 FLNA XRN2 EP400 BAZ2B NTPCR ZBTB9 XRCC1 MED1 ZNF503 KANSL3 KMT2D ATIC ZMYM3

8.83e-0611032042034189442
Pubmed

Proteome-scale mapping of binding sites in the unstructured regions of the human proteome.

SYNPO2 TRO CIC TASOR2 UBN1 PIAS3 CLTC ADGRL3 MRTFA EP400 TCOF1 SON

1.01e-054302041235044719
Pubmed

Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies.

FRMPD4 MYCBP2 MAP4 DGKG PSMD4 SUCLG1 MYEF2 DLGAP3 CLTC AFDN ADGRL3 SHANK1 FLNA STXBP5L SHANK3 WDR47 TENM4 FAM171A2 PRKCG CRYBG3

1.40e-0511392042036417873
Pubmed

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.

COL4A3 COL4A4 TNS1

1.63e-059204316953426
Pubmed

Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.

VPS13C MYEF2 MAST4 ZC3H4 RPRD2 CASP8AP2 EP400 PITRM1 PHRF1 TOPBP1 URGCP KANSL3 EIF2AK4

1.66e-055292041314621295
Pubmed

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.

FRMPD4 DLGAP3 PYCR1 AFDN ADGRL3 SHANK1 EPB41L4B SHANK3

2.31e-05197204836604605
Pubmed

Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease.

HDAC9 MYCBP2 PSMD4 EXTL3 PIAS3 CLTC PKD1 PPME1 AFDN RECK SHANK1 XRN2 ACTR8 TCOF1 TAF1C ZBTB47 CAMK1 WDR47 SPTBN4 ATIC REPS2

2.46e-0512852042135914814
Pubmed

The RNA-mediated estrogen receptor α interactome of hormone-dependent human breast cancer cell nuclei.

MAP4 MPDZ UBN2 CIC MYEF2 SPCS3 AFDN NRDE2 VRK2 TBC1D30 EP400 TAF1C PPP1R9A SAMD4B PHRF1 NTPCR TOPBP1 XRCC1 MED1 TFAP2C PTRH2 ZMYM3 SON

2.61e-0514972042331527615
Pubmed

Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.

ABL1 MAP4 EXTL3 RYR1 DLGAP3 PKD1 FLNA XRCC1 SHANK3 CHRD

2.73e-053292041017474147
Pubmed

TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile.

CIC MYEF2 RYR1 TTBK2 SPCS3 PYCR1 ROBO4 NTPCR MUC16 MED1 KMT2D BBS7 CEP295 IRS2

2.74e-056382041431182584
Pubmed

Binding of mouse and human fibulin-2 to extracellular matrix ligands.

FBLN2 COL4A3 COL4A4

3.17e-051120437500359
Pubmed

Sensory ataxia and muscle spindle agenesis in mice lacking the transcription factor Egr3.

COL4A3 COL4A4 NTRK1

3.17e-051120439731539
Pubmed

Proximity-dependent Mapping of the Androgen Receptor Identifies Kruppel-like Factor 4 as a Functional Partner.

UBN2 CIC ZC3H4 RPRD2 EP400 ZBTB9 MED1 KANSL3 KMT2D

3.20e-05268204933640491
Pubmed

E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins.

VPS13C RYR1 MYO15B CLTC PKD1 CFAP47 TBC1D30 EPB41L4B BAZ2B PCDHB14 RNF213 AMER3 CHRD CEP295 ATIC

3.31e-057362041529676528
Pubmed

Carbonic Anhydrase 8 Expression in Purkinje Cells Is Controlled by PKCγ Activity and Regulates Purkinje Cell Dendritic Growth.

CA8 PRKCG

3.42e-052204226399641
Pubmed

Tyrosine phosphorylation of rasGAP and associated proteins in chronic myelogenous leukemia cell lines.

ABL1 RASA1

3.42e-05220421571536
Pubmed

Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36.

COL4A3 COL4A4

3.42e-05220429537506
Pubmed

Developmental impaired Akt signaling in the Shank1 and Shank3 double knock-out mice.

SHANK1 SHANK3

3.42e-052204233402706
Pubmed

Identification of TopBP1 as a c-Abl-interacting protein and a repressor for c-Abl expression.

ABL1 TOPBP1

3.42e-052204215961388
Pubmed

Inhibition of Abl tyrosine kinase enhances nerve growth factor-mediated signaling in Bcr-Abl transformed cells via the alteration of signaling complex and the receptor turnover.

ABL1 NTRK1

3.42e-052204218427551
Pubmed

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

COL4A3 COL4A4

3.42e-05220427987396
Pubmed

The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.

COL4A3 COL4A4

3.42e-052204229742505
Pubmed

Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?

COL4A3 COL4A4

3.42e-052204238214412
Pubmed

The RECK tumor-suppressor protein binds and stabilizes ADAMTS10.

RECK ADAMTS10

3.42e-052204230287421
Pubmed

Gene conversion and purifying selection of a placenta-specific ERV-V envelope gene during simian evolution.

ERVV-1 ERVV-2

3.42e-052204218826608
Pubmed

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

COL4A3 COL4A4

3.42e-052204224052634
Pubmed

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.

COL4A3 COL4A4

3.42e-052204219357112
Pubmed

CIC-NUTM1 Sarcomas Affecting the Spine.

CIC NUTM1

3.42e-052204234525172
Pubmed

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.

COL4A3 COL4A4

3.42e-052204225229338
Pubmed

A novel combination therapy targeting ubiquitin-specific protease 5 in MYCN-driven neuroblastoma.

MYCN USP5

3.42e-052204233658627
Pubmed

Persistent familial hematuria in children and the locus for thin basement membrane nephropathy.

COL4A3 COL4A4

3.42e-052204216235097
Pubmed

UBN1/2 of HIRA complex is responsible for recognition and deposition of H3.3 at cis-regulatory elements of genes in mouse ES cells.

UBN2 UBN1

3.42e-052204230285846
Pubmed

Histone deacetylase 2 and N-Myc reduce p53 protein phosphorylation at serine 46 by repressing gene transcription of tumor protein 53-induced nuclear protein 1.

MYCN HDAC9

3.42e-052204224952595
Pubmed

Association of the Abl tyrosine kinase with the Trk nerve growth factor receptor.

ABL1 NTRK1

3.42e-052204210679771
Pubmed

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing.

COL4A3 COL4A4

3.42e-052204235386907
Pubmed

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

COL4A3 COL4A4

3.42e-052204212028435
Pubmed

Differential evolutionary fate of an ancestral primate endogenous retrovirus envelope gene, the EnvV syncytin, captured for a function in placentation.

ERVV-1 ERVV-2

3.42e-052204223555306
Pubmed

COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. glomerular epithelium destruction via basement membrane thinning?

COL4A3 COL4A4

3.42e-052204218661361
Pubmed

Identification and characterization of human LLGL4 gene and mouse Llgl4 gene in silico.

STXBP5L STXBP5

3.42e-052204214767561
Pubmed

Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family.

COL4A3 COL4A4

3.42e-052204228674241
Pubmed

CIC-NUTM1 fusion: A case which expands the spectrum of NUT-rearranged epithelioid malignancies.

CIC NUTM1

3.42e-052204229700887
Pubmed

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?

COL4A3 COL4A4

3.42e-052204235090027
Pubmed

Mammalian hemicentin 1 is assembled into tracks in the extracellular matrix of multiple tissues.

HMCN2 HMCN1

3.42e-052204232035013
Pubmed

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.

COL4A3 COL4A4

3.42e-052204217216251
Pubmed

Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.

COL4A3 COL4A4

3.42e-052204235369551
Pubmed

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

COL4A3 COL4A4

3.42e-052204225307543
Pubmed

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

COL4A3 COL4A4

3.42e-052204227281700
Pubmed

[From Alport syndrome to benign familial hematuria: clinical and genetic aspect].

COL4A3 COL4A4

3.42e-052204216895672
Pubmed

Clinicopathologic Features of CIC-NUTM1 Sarcomas, a New Molecular Variant of the Family of CIC-Fused Sarcomas.

CIC NUTM1

3.42e-052204230407212
Pubmed

Type-IV collagen related diseases.

COL4A3 COL4A4

3.42e-052204212768082
Pubmed

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.

COL4A3 COL4A4

3.42e-052204217942953
Pubmed

Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.

COL4A3 COL4A4

3.42e-052204220029656
Pubmed

Treacle and TOPBP1 control replication stress response in the nucleolus.

TCOF1 TOPBP1

3.42e-052204234100862
Pubmed

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.

COL4A3 COL4A4

3.42e-052204225381091
Pubmed

Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure.

COL4A3 COL4A4

3.42e-052204215280517
Pubmed

The genetics of thin basement membrane nephropathy.

COL4A3 COL4A4

3.42e-052204215880327
Pubmed

Regulation of kidney-specific Ksp-cadherin gene promoter by hepatocyte nuclear factor-1beta.

HNF1B CDH16

3.42e-052204212217876
Pubmed

Polymorphism analysis of COL4A3 and COL4A4 genes in Greek patients with keratoconus.

COL4A3 COL4A4

3.42e-052204225083577
Pubmed

Identification of the NC1 domain of {alpha}3 chain as critical for {alpha}3{alpha}4{alpha}5 type IV collagen network assembly.

COL4A3 COL4A4

3.42e-052204220847057
Pubmed

How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists.

COL4A3 COL4A4

3.42e-052204232232700
Pubmed

Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects.

DGKG PTH1R PKD1 COL4A3 MED1 THBD CHRD PRKCG

3.64e-05210204816537572
Pubmed

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism.

ENDOD1 PSMD4 ZNF236 DIPK2A UBN1 CLTC PPME1 DKC1 DIAPH3 FLNA PITRM1 CENPO MED1 TFAP2C ARMC5 MCM9 PTRH2 EIF2AK4 ATIC ULK2 CAPN15

3.91e-0513272042132694731
Pubmed

Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability.

UBN2 CIC UBN1 CLTC DIAPH3 CASP8AP2 XRN2 EP400 TCOF1 TOPBP1 KANSL3 CRYBG3 ZMYM3

4.93e-055882041338580884
Pubmed

Functional proteomics mapping of a human signaling pathway.

MYCBP2 PSG3 MAST4 PIAS3 PKD1 AFDN ERVV-1 DIAPH3 FLNA LIMD1 USP5 KMT2D SON

5.19e-055912041315231748
Pubmed

Mesangial cells organize the glomerular capillaries by adhering to the G domain of laminin alpha5 in the glomerular basement membrane.

FBLN2 COL4A3 COL4A4

5.45e-0513204312682087
Pubmed

Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders.

MYCBP2 MPDZ UBN2 MYEF2 DLGAP3 ZC3H4 CLTC AFDN SHANK1 TCOF1 PPP1R9A SHANK3 WDR47 SPTBN4 FAM171A2 PRKCG TNS1

5.94e-059632041728671696
Pubmed

A Human Tyrosine Phosphatase Interactome Mapped by Proteomic Profiling.

MPDZ PSMD4 DLGAP3 SCO1 PYCR1 AFDN DIAPH3 PIPSL SLC27A3 FLNA PITRM1 TCOF1 USP5 WDR6 PTRH2 IRS2 SNTB1

6.82e-059742041728675297
Pubmed

Hypertonicity-responsive ubiquitin ligase RNF183 promotes Na, K-ATPase lysosomal degradation through ubiquitination of its β1 subunit.

MAP4 PSMD4 CLTC AFDN DIAPH3 FLNA VRK2 TCOF1 NTPCR USP5 WDR6

7.68e-054492041131732153
Pubmed

Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.

PKD1L2 KIAA2012 PITRM1 C16orf46

9.82e-0541204418951430
Pubmed

Distribution and evolution of von Willebrand/integrin A domains: widely dispersed domains with roles in cell adhesion and elsewhere.

HMCN2 HMCN1

1.02e-043204212388743
Pubmed

Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome.

COL4A3 COL4A4

1.02e-043204227576055
Pubmed

Differential coregulator requirements for function of the hematopoietic transcription factor GATA-1 at endogenous loci.

ZFPM1 MED1

1.02e-043204220047963
Pubmed

A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen α3α4α5(IV) trimers.

COL4A3 COL4A4

1.02e-043204224522496
Pubmed

PTH/PTHrP Receptor Signaling Restricts Arterial Fibrosis in Diabetic LDLR-/- Mice by Inhibiting Myocardin-Related Transcription Factor Relays.

PTH1R MRTFA

1.02e-043204232160132
Pubmed

Collagen IV alpha 3, alpha 4, and alpha 5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switches.

COL4A3 COL4A4

1.02e-04320427962065
Pubmed

Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.

COL4A3 COL4A4

1.02e-043204228704582
Pubmed

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.

COL4A3 COL4A4

1.02e-043204230647093
Pubmed

Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the cytoskeletal protein alpha-fodrin.

SHANK1 SHANK3

1.02e-043204211509555
Pubmed

Filamin A interacts with the coactivator MKL1 to promote the activity of the transcription factor SRF and cell migration.

MRTFA FLNA

1.02e-043204226554816
Pubmed

Tomosyn: a syntaxin-1-binding protein that forms a novel complex in the neurotransmitter release process.

STXBP5L STXBP5

1.02e-04320429620695
Pubmed

Long days enhance recognition memory and increase insulin-like growth factor 2 in the hippocampus.

OPN4 PER2

1.02e-043204228634329
CytobandEnsembl 112 genes in cytogenetic band chr3p21

MAP4 PTH1R ZNF852 ACTR8 LIMD1 MON1A ABHD14B WDR6

9.31e-053162048chr3p21
CytobandEnsembl 112 genes in cytogenetic band chr19q13

PSG3 GGN CIC RYR1 ZC3H4 ERVV-1 DMWD SHANK1 ERVV-2 SAMD4B PLEKHA4 XRCC1 SPTBN4 PRKCG SLC7A10

3.15e-04119220415chr19q13
GeneFamilyPDZ domain containing

SYNPO2 FRMPD4 MPDZ MAST4 AFDN SHANK1 PPP1R9A SHANK3 SNTB1

1.44e-0615212991220
GeneFamilyZinc fingers 3CxxC-type|Receptor transporter proteins

ZCCHC24 RTP4 ZAR1L

1.94e-0581293137
GeneFamilyFibulins

FBLN2 HMCN2 HMCN1

1.94e-0581293556
GeneFamilyBeta-gamma crystallin domain containing

CRYBG2 CRYBG3

1.51e-04312921360
GeneFamilyC2 domain containing|Calpains

CAPN5 CAPN7 CAPN15

1.52e-04151293975
GeneFamilyArmadillo repeat containing|Protein phosphatase 1 regulatory subunits

ITGA2B RYR1 UBN1 PPP1R9A PHRF1 TNS1 HYDIN

3.21e-041811297694
GeneFamilyPleckstrin homology domain containing|Rho guanine nucleotide exchange factors|C2 domain containing

AFAP1L1 FGD3 RASA1 PLEKHA4 SPTBN4 IRS2 SNTB1

6.97e-042061297682
GeneFamilyHyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing

PKD1L2 PKD1 THBD

3.10e-034112931298
GeneFamilySterile alpha motif domain containing

SHANK1 PPP1R9A SAMD4B SHANK3

3.63e-03881294760
CoexpressionAtlasStem Cells, SC.STSL.BM, CD117+ IL7R- CD150- CD48- AA4.1+ CD43+, Bone marrow, avg-3

MYCN TCP11L1 DGKG ZNF395 ZFPM1 ITGA2B AFAP1L1 CAPN5 DIAPH3 BAHCC1 ROBO4 STXBP5 PPP1R9A CAMK1 SHANK3 TNS1

2.60e-0642319916GSM399454_500
ToppCellLPS_IL1RA-Endothelial-Endothelial-Gen_Cap|LPS_IL1RA / Treatment groups by lineage, cell group, cell type

MPDZ MAST4 AFDN ADGRL3 ROBO4 BAZ2B PPP1R9A RNF213 HMCN1 ZNF518B SON

2.34e-0920020411dccec522ab0d7fff62ad6273b02aa9022dbbb8eb
ToppCellCOVID_non-vent-Myeloid-Monocytic-SC_&_Eosinophil|COVID_non-vent / Disease condition, Lineage, Cell class and subclass

MYCN TRO MPDZ ITGA2B CA8 ROBO4 NTRK1 SHBG SHANK3 SYTL4

3.28e-09158204100d4fe87fc7901dd5f9c004e91708a03cafdb4ad9
ToppCellCOVID-19-Heart-Fib_1|COVID-19 / Disease (COVID-19 only), tissue and cell type

GALNT15 SYNPO2 FBLN2 HMCN2 MMP16 ADGRL3 COL4A4 SOBP CCDC80 TENM4

1.74e-0818820410fe361215f4ba841aa5e1e581fb56f2f4d3ccd201
ToppCellLPS-IL1RA-Endothelial-Endothelial-Gen_Cap|LPS-IL1RA / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

AFAP1L1 MAST4 AFDN MMP16 ADGRL3 BAZ2B PPP1R9A SHANK3 THBD HMCN1

2.35e-08194204100b9cd96fa0b616da7cc90e92ff71157e9bba518f
ToppCellChildren_(3_yrs)-Mesenchymal-vascular_smooth_muscle_cell-D139|Children_(3_yrs) / Lineage, Cell type, age group and donor

SYNPO2 DGKG PTH1R ADGRL3 FLNA PERM1 ADAMTS10 HMCN1 TNS1

7.38e-0816520498a82e20c9b1156bb4bbc16f7785abb04458d671b
ToppCellTCGA-Pancreas-Primary_Tumor-Pancreatic_Adenocarcinoma-Ductal_Adenocarcinoma-4|TCGA-Pancreas / Sample_Type by Project: Shred V9

MYCBP2 MPDZ MMP16 RECK CCDC117 CCDC80 HMCN1 ZNF518B CRYBG3

1.87e-07184204967164bb6bcae7322cb89b585c7aa10bce35b0ecd
ToppCellTCGA-Breast-Primary_Tumor-Breast_Carcinoma-Infiltrating_Lobular_Carcinoma-6|TCGA-Breast / Sample_Type by Project: Shred V9

ZCCHC24 CIC HMCN2 ZBTB47 CCDC80 SHANK3 ADAMTS10 THBD GLIS1

2.24e-071882049c90669b51e1902fe7726555290c91c92a911df83
ToppCellLPS-antiTNF-Endothelial-Endothelial-Gen_Cap|LPS-antiTNF / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

AFAP1L1 MAST4 AFDN MMP16 ADGRL3 PPP1R9A SHANK3 THBD HMCN1

2.80e-0719320496e1982d089a9de628e6006d23ff78a223fbd9f47
ToppCell10x_3'_v2v3-Non-neoplastic-Glial-Neuronal-OPC-OPC-E|10x_3'_v2v3 / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group

ZCCHC24 DGKG FBLN2 PTPRZ1 MMP16 ADGRL3 EPB41L4B PPP1R9A

6.06e-07155204877fdae85d36efb776db977eb424b32487ef222e4
ToppCellChildren_(3_yrs)-Mesenchymal-vascular_smooth_muscle_cell|Children_(3_yrs) / Lineage, Cell type, age group and donor

SYNPO2 DGKG PTH1R ADGRL3 PERM1 ADAMTS10 HMCN1 TNS1

1.39e-0617320485416b092321c7d9b63f0418c60f2402a138355bf
ToppCellControl|World / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

AFAP1L1 ADGRL3 COL4A3 COL4A4 PPP1R9A AQP5 SHANK3 SNTB1

1.65e-061772048b8ff6940e31b749776e81ae4f5bbd577dba9749c
ToppCellBAL-Severe-Lymphocyte-B-B_cell-B_cell-B_activate-7|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

HDAC9 ZNF395 COL4A3 COL4A4 SOBP PPP1R9A CENPO FAM117B

1.87e-0618020489f4bbaf6435c23e3e552ae22be8ea7884314192d
ToppCellBAL-Severe-Lymphocyte-B-B_cell-B_cell|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

HDAC9 ZNF395 COL4A3 COL4A4 SOBP PPP1R9A CENPO FAM117B

1.87e-061802048b465f2f8b0e9a2034a4f1272bb00c77439164dbf
ToppCellBAL-Severe-Lymphocyte-B-B_cell|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

HDAC9 ZNF395 COL4A3 COL4A4 SOBP PPP1R9A CENPO FAM117B

1.87e-061802048c3c72531af5b9f7a7416727fe609dab5180e03b6
ToppCellfacs-Marrow-B-cells-18m-Hematologic-MPP_Fraction_B_+_C|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ALPK3 CAPN5 PITRM1 EPB41L4B SPTBN4 THBD C1orf226 ARMC5

1.87e-0618020487368ab31c3273374ef260f0d710d4eea83cbc4a2
ToppCellLPS-IL1RA-Epithelial_alveolar-Mes-Like-AT1-AT2|LPS-IL1RA / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

RTP4 HMCN2 COL4A4 CRYBG2 EPB41L4B AQP5 ZMYM3

2.11e-061282047082b3dc312b033c9b21cf73499009a1dc049ee2b
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic-thymocyte|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

FRMPD4 ABCA12 PKD1L2 ADGRL3 STXBP5L TENM4 HMCN1 HYDIN

2.20e-0618420482cbed6462fea2622871bb7e49b0df3d984239281
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

FRMPD4 ABCA12 PKD1L2 ADGRL3 STXBP5L TENM4 HMCN1 HYDIN

2.20e-061842048ea7a7e2bac46d4d2c31a5d576b38a032b5335062
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic-proliferating_thymocyte;_DN_to_DP_transition,_dividing_(some_are_Cd8+/_Cd4+,_some_undergoing_VDJ_recombination)|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

FRMPD4 ABCA12 PKD1L2 ADGRL3 STXBP5L TENM4 HMCN1 HYDIN

2.20e-0618420482b19a8c5f823e00812908b23e66bb4e563278aff
ToppCellCOVID-19-Heart-Fib_2|COVID-19 / Disease (COVID-19 only), tissue and cell type

GALNT15 SYNPO2 FBLN2 HMCN2 ADGRL3 SOBP CCDC80 TENM4

2.29e-0618520488f95d8e591bf7379d13f5a0545b0cb49e2b1ab5d
ToppCellControl-Endothelial-Endothelial-Vein|Control / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

HDAC9 FRMPD4 AFAP1L1 FBLN2 MMP16 ADGRL3 THBD HMCN1

2.38e-06186204892092f11ecce22c14f244e42c499af0822977e6f
ToppCelldroplet-Lung-3m-Mesenchymal-fibroblast-adventitial_fibroblast-adventitial_fibroblast_l17|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

FBLN2 MMP16 COL4A3 COL4A4 CCDC80 MSX1 FAM171A2 CHRD

2.58e-0618820486c6486cae9a8f2f8200598cb4bfd3fd513eb28a3
ToppCellPND10|World / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

MYCBP2 MAP4 AFDN ADGRL3 FLNA RASA1 HMCN1 SON

2.79e-061902048d67e2814047c8df2ae4b7bc8be9539f5df6ecef2
ToppCellLPS-antiTNF-Endothelial-Endothelial-Activated_Gen_Cap|LPS-antiTNF / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

AFAP1L1 MMP16 ADGRL3 ROBO4 SHANK3 MSX1 THBD HMCN1

3.02e-0619220480aeb5351275c0a91151ea2d52b2cdde172da6731
ToppCellfacs-Brain_Non-Myeloid-Cortex-24m-Neuronal|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TRO DLGAP3 STXBP5L SPTBN4 TENM4 DLK2 PRKCG SEZ6

3.13e-061932048be28070c049e7cb68bcd54f582226eb2f5e4bc1c
ToppCellControl-Endothelial-Endothelial-Gen_Cap|Control / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

AFAP1L1 MMP16 ADGRL3 BAZ2B PPP1R9A SHANK3 THBD HMCN1

3.13e-061932048e1d546165dcc2392f540162206852c4717d7306f
ToppCellfacs-Brain_Non-Myeloid-Cortex-24m-Neuronal-nan|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TRO DLGAP3 STXBP5L SPTBN4 TENM4 DLK2 PRKCG SEZ6

3.13e-0619320480c652ebe22ce5d2927599dd97ef1920547858395
ToppCellfacs-Brain_Non-Myeloid-Cortex-24m-Neuronal-neuron|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TRO DLGAP3 STXBP5L SPTBN4 TENM4 DLK2 PRKCG SEZ6

3.13e-0619320488689a70a33a7c3823dc647d41ac0160e7c3ae396
ToppCellCOVID-19-Heart-Fib_1|Heart / Disease (COVID-19 only), tissue and cell type

FBLN2 ADGRL3 COL4A3 COL4A4 SOBP CCDC80 TENM4 SNTB1

3.38e-061952048f423baa36ac7cdc383c033e35a7d17e6bf913323
ToppCellkidney_cells-Hypertensive_with+without-CKD-Endothelial-blood_vessel_endothelial_cell_of_kidney-arteriolar_vasa-recta_endothelial-Descending_Vasa_Recta_Endothelial_Cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

GALNT15 AFAP1L1 FBLN2 HMCN2 ROBO4 SHANK3 MSX1 CRYBG3

3.51e-061962048a20a56d8997d6db2a10046c8801c619a379de83c
ToppCell10x3'2.3-week_17-19-Endothelial-stroma-sinusoidal_EC|week_17-19 / cell types per 3 fetal stages;per 3',per 5'

GALNT15 MPDZ AFAP1L1 ALPK3 ROBO4 SHANK3 THBD HMCN1

3.65e-0619720484e58bbf3ecb30b4c8199adcc04d2eb134d90de56
ToppCellBronchial-NucSeq-Epithelial-Epi_submucosal-gland-SMG_Mucous|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

MYCN EXTL3 PYCR1 CA8 TBC1D30 MUC16 AQP5 IRS2

4.08e-062002048ed093626a9cac7531a2bf02f6e345c5e84b8c060
ToppCellKidney|World / Skin and Kidney Cells in Lupus Nephritis Patients.

PTH1R COL4A4 HNF1B PPP1R9A SLC4A1 ZNF503 TNS1 CDH16

4.08e-0620020481f99afa1f3c32a2a9cfb4ad33ff4d404e34fac63
ToppCellBronchial-NucSeq-Epithelial-Epi_submucosal-gland|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

PER2 PTPRZ1 PYCR1 CA8 TBC1D30 MUC16 AQP5 IRS2

4.08e-06200204885c0f038bcfb42669dca2b80273b0f8a1421405e
ToppCellP07-Epithelial-airway_epithelial_cell-ciliated_cell_of_airway|P07 / developmental_time, Lineage, Cell group, Cell type, Cell type_cellcyc-phase

TSPAN15 MYCN MRTFA COL4A3 COL4A4 HNF1B AQP5

6.88e-0615320475501095bcf73080872ae01128f21399f9cfc5dd1
ToppCellE16.5-Epithelial-Epithelial_Alveolar-Epithelial_Alveolar-AT1-AT1_mature|E16.5 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

TSPAN15 HMCN2 MRTFA COL4A3 COL4A4 AQP5 DLK2

1.04e-05163204756b8668dbf06faa6866ec71f29b92907b73f074d
ToppCelldroplet-Heart-nan-18m-Hematologic-coronary_vascular_endothelial_cell|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TSPAN15 PTH1R PER2 SCO1 FAM117B SHANK3 EIF2AK4

1.27e-0516820472201ae834b53cbdc085f8f02607fa5b5bd911268
ToppCellfacs-Brain_Non-Myeloid-Cerebellum-24m-Mesenchymal-brain_pericyte|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

GGN DGKG ASB10 COL4A4 FLNA LIMD1 HYDIN

1.53e-0517320472415b6ff49f334da570577d4e93484d024a3dbd5
ToppCellfacs-Brain_Non-Myeloid-Cerebellum-24m-Mesenchymal-Pericyte|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

GGN DGKG ASB10 COL4A4 FLNA LIMD1 HYDIN

1.53e-0517320472acd0693a2dfe04e3c1b2125ea63efe92d13150b
ToppCell3'_v3-lymph-node_spleen-Hematopoietic_progenitors|lymph-node_spleen / Manually curated celltypes from each tissue

MYCN ABO MPDZ ITGA2B GDF1 PTH1R SHANK3

1.59e-0517420476d9bdf4d28ff8ebb66ffd1ccdd6a4fe9440a83f3
ToppCellAdult-Epithelial-basal_cell-D231|Adult / Lineage, Cell type, age group and donor

NKX6-2 FRMPD4 ABCA12 TRO PTPRZ1 AQP5 DLK2

1.59e-051742047a4f98afe7d1cc2617f6f7bc8092c41df57474b30
ToppCellPND10-Epithelial-Epithelial_Alveolar-Epithelial_Alveolar-AT1/AT2|PND10 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

TSPAN15 CLTC COL4A3 COL4A4 HNF1B PPP1R9A AQP5

1.65e-051752047442f261a3b2c4d2523f7d4089178f8c79cac2f0f
ToppCellPND10-Epithelial-Epithelial_Alveolar-Epithelial_Alveolar-AT1/AT2-AT1/AT2_mature|PND10 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

TSPAN15 CLTC COL4A3 COL4A4 HNF1B PPP1R9A AQP5

1.65e-05175204735fb7735dd3355476fe60404833cb60bd066bcf1
ToppCelldroplet-Kidney-KIDNEY-30m-Endothelial-Pecam____kidney_capillary_endothelial_cell|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TSPAN15 ZCCHC24 TRO CCDC80 FAM117B HMCN1 FAM171A2

1.71e-051762047c4d9166e5bbb7ca544107db14e4374289f5de6bd
ToppCell3'_v3-lymph-node_spleen-Hematopoietic_progenitors-Progenitor_MEMP|lymph-node_spleen / Manually curated celltypes from each tissue

MYCN ABO ITGA2B GDF1 ROBO4 SHANK3 SYTL4

1.71e-05176204723a8ec42ebd42c539865a12d09773af90f3f8848
ToppCelldroplet-Kidney-KIDNEY-30m-Endothelial-kidney_capillary_endothelial_cell|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TSPAN15 ZCCHC24 TRO CCDC80 FAM117B HMCN1 FAM171A2

1.71e-051762047d58ef51002ea50b3037636038214bbb7454cb503
ToppCellkidney_cells-Renal_AKI_(acute_kidney_injury)-Epithelial-Distal_tubule_epithelial_cell-kidney_distal_convoluted_tubule_epithelial_cell-Distal_Convoluted_Tubule_Cell_Type_2|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

PTH1R COL4A3 COL4A4 ZNF503 HMCN1 CRYBG3 CDH16

1.78e-051772047c9e8149639551a4c8daa90fcb2b895fdcff2e2ba
ToppCellfacs-Lung-3m-Mesenchymal-fibroblast-adventitial_fibroblast-adventitial_fibroblast_l17|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

OPN4 DLGAP3 FBLN2 COL4A3 COL4A4 CCDC80 CHRD

1.98e-05180204739ae8586efd91536e9ac6408d26de7e6d6237c41
ToppCellPND07-28-samps-Mesenchymal-Matrix_fibroblast-mesenchymal_C|PND07-28-samps / Age Group, Lineage, Cell class and subclass

SLC27A3 CCDC117 PCDHB14 SLC4A1 SPTBN4 SLC7A10

2.01e-051212046176de42c088988fe1a7838f96add26ee8a30e543
ToppCellPrimary_Motor_Cortex_(M1)-Neuronal-Glutamatergic_Excit-Glut_A_(CT)-Glut_CT_L6_FEZF2|Primary_Motor_Cortex_(M1) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

SYNPO2 ABO DGKG HS3ST2 PRKCG CRYBG3 GLIS1

2.05e-05181204708f44323bf71b6004a921bbc969c954c75feeb66
ToppCell5'-GW_trimst-2-LargeIntestine-Endothelial-blood_vessel_EC-Fetal_venous_EC|GW_trimst-2 / Celltypes from developing, pediatric, Crohn's, & adult GI tract

GALNT15 FBLN2 MMP16 ROBO4 SHANK3 THBD HMCN1

2.12e-051822047d0e3663f7d39f22a3ebd7fde56ab3504773598f4
ToppCellAdult-Epithelial-basal_cell|Adult / Lineage, Cell type, age group and donor

NKX6-2 FRMPD4 PTPRZ1 STXBP5L AQP5 HMCN1 DLK2

2.20e-05183204700a6b19ca49e3b8e0d1cd387a3515b0ff4b81c81
ToppCellE15.5-Mesenchymal-mesenchymal_fibroblast-mesothelial_cell_of_visceral_pleura|E15.5 / developmental_time, Lineage, Cell group, Cell type, Cell type_cellcyc-phase

FBLN2 MMP16 COL4A3 COL4A4 MUC16 CCDC80 AQP5

2.20e-051832047274f274cf60daa30d6a4cd603a3af7823bfb8016
ToppCelldroplet-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

TRO ADGRL3 SLC27A3 SOWAHD CCDC80 DLK2 HYDIN

2.28e-0518420471c857126c0ea0671f0d60b048efca288d348d653
ToppCelldroplet-Lung-21m-Mesenchymal-fibroblast-adventitial_fibroblast-adventitial_fibroblast_l17|21m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

FBLN2 MMP16 SHANK1 NTRK1 CCDC80 SYTL4 CHRD

2.36e-0518520471b990e3089772be2b38c6d7ea0d1bf22461ae3ea
ToppCellCV-Moderate-7|Moderate / Virus stimulation, Condition and Cluster

MYCBP2 VPS13C DIPK2A CLTC RNF213 KMT2D MCM9

2.36e-051852047a6c9203ce6c2892a4a369c9bcfb85720f01cbb3f
ToppCell10x5'v1-week_12-13-Endothelial-stroma-sinusoidal_EC|week_12-13 / cell types per 3 fetal stages;per 3',per 5'

GALNT15 TSPAN15 MPDZ AFAP1L1 ALPK3 ROBO4 HMCN1

2.44e-051862047e8ead5634686ebaa6a230eea69795d923ce9939d
ToppCellCV-Moderate-7|CV / Virus stimulation, Condition and Cluster

MYCBP2 VPS13C DIPK2A CLTC CCDC14 RNF213 MCM9

2.44e-0518620478571956890fc9894d766ba294a28e376b4aba428
ToppCelldroplet-Lung-1m-Mesenchymal-fibroblast-adventitial_fibroblast-adventitial_fibroblast_l17|1m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

GALNT15 TRO FBLN2 COL4A3 COL4A4 SOBP CCDC80

2.53e-051872047ed7ab4cf4629d96dad5c74d536fc428d0a8d4eb9
ToppCell3'-GW_trimst-2-LargeIntestine-Endothelial-blood_vessel_EC-cycling_EC|GW_trimst-2 / Celltypes from developing, pediatric, Crohn's, & adult GI tract

NKX6-2 AFAP1L1 CA8 ROBO4 CENPO SHANK3 THBD

2.62e-0518820475d166d9e71632edd059ff0a9f66f8763f259d40a
ToppCellLPS-antiTNF-Endothelial-Endothelial-Alv_Gen_Intermediate|LPS-antiTNF / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

AFAP1L1 MMP16 ADGRL3 ROBO4 SHANK3 THBD ZNF518B

2.62e-051882047789d1be574e693d7bdd488f3c72c6df788e47b47
ToppCellPCW_07-8.5-Epithelial-Epithelial_alveolar-distal-epi_SFTPC^high_distal_(9)|PCW_07-8.5 / Celltypes from embryonic and fetal-stage human lung

DGKG PTPRZ1 ALPK3 HNF1B EPB41L4B PPP1R9A AQP5

2.71e-0518920475d9da836ce4308b8458bb3be3871a0aca734b6cd
ToppCellCOVID_vent-Myeloid-Monocytic-SC_&_Eosinophil|COVID_vent / Disease condition, Lineage, Cell class and subclass

MYCN TRO MPDZ ROBO4 NTRK1 SHANK3 SYTL4

2.71e-0518920472157a2d40613f7d5ce2e7dbd266df441e449cdaf
ToppCellPND07-Epithelial-Epithelial_Alveolar-Epithelial_Alveolar|PND07 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CLTC CA8 COL4A3 COL4A4 PPP1R9A AQP5 CDH16

2.80e-05190204733d1b0a38267270e87702ba5794f07233acf4955
ToppCellfacs-Pancreas-Exocrine-3m-Endothelial|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

GALNT15 AFAP1L1 FBLN2 ROBO4 SHANK3 THBD HMCN1

2.80e-051902047b7fc451e160e31dc898b122de844b501f587db67
ToppCellrenal_papilla_nuclei-Adult_normal_reference-Mesenchymal-Myocytic_interstitial_cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

SYNPO2 DGKG PTH1R MMP16 ADGRL3 FLNA TNS1

2.80e-0519020475681c211baeed4af82a2bbc13420f6a7b487581c
ToppCellfacs-Pancreas-Exocrine-3m-Endothelial-endothelial_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

GALNT15 AFAP1L1 FBLN2 ROBO4 SHANK3 THBD HMCN1

2.80e-05190204783cc851fb9f644b17a8ebf4d99a646003769a22f
ToppCellPND07-Epithelial-Epithelial_Alveolar|PND07 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CLTC CA8 COL4A3 COL4A4 PPP1R9A AQP5 CDH16

2.80e-051902047ee39fb88f31d2d65b5d3e7416db68f5df07f6637
ToppCellLPS-IL1RA-Endothelial-Endothelial-Alv_Gen_Intermediate|LPS-IL1RA / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

ABO AFAP1L1 MMP16 ADGRL3 SHANK3 THBD ZNF518B

2.80e-051902047106ea0bb7b99c697ffc5443d72343df2484250c7
ToppCellfacs-Pancreas-Exocrine-3m-Endothelial-nan|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

GALNT15 AFAP1L1 FBLN2 ROBO4 SHANK3 THBD HMCN1

2.80e-0519020475f440d4b334d66d419c03bd828f7d93f16c1ce67
ToppCellrenal_medulla_nuclei-Renal_AKI_(acute_kidney_injury)-Epithelial-Intermediate_tubule_epithelial_cell|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

DIAPH3 ADGRL3 COL4A3 COL4A4 HNF1B HYDIN SNTB1

2.89e-051912047d0e9afe7b6334dd515d3e68892efdc76347a55e5
ToppCellLV-02._Fibroblast_II|World / Chamber and Cluster_Paper

FBLN2 ADGRL3 COL4A3 COL4A4 SOBP CCDC80 SNTB1

2.89e-051912047d36565257ccba8c1bbed2c1c01be66a9cbb5f834
ToppCell10x5'v1-week_17-19-Endothelial-stroma-proliferating_EC|week_17-19 / cell types per 3 fetal stages;per 3',per 5'

GALNT15 AFAP1L1 ALPK3 ROBO4 SHANK3 HMCN1 CHRD

2.89e-051912047dc9e5eb6aa31b8d79aeec33e59b9138dfb469a3b
ToppCellfacs-Diaphragm-Limb_Muscle-3m-Endothelial-nan|Diaphragm / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

AFAP1L1 AFDN CA8 ROBO4 SHANK3 THBD TNS1

2.99e-0519220478f20d3511dcb44445592b17d005a53da0052ae56
ToppCellfacs-Diaphragm-Limb_Muscle-3m-Endothelial-endothelial_cell|Diaphragm / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

AFAP1L1 AFDN CA8 ROBO4 SHANK3 THBD TNS1

2.99e-0519220470986b7900021efe2a4df84a935e7c9a0af1b0e57
ToppCellPND03-Epithelial|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

TSPAN15 CLTC CA8 COL4A3 COL4A4 PPP1R9A AQP5

2.99e-051922047d8c23693f690d4d568585537bbfedda05d505b3d
ToppCellfacs-Diaphragm-Limb_Muscle-3m-Endothelial|Diaphragm / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

AFAP1L1 AFDN CA8 ROBO4 SHANK3 THBD TNS1

2.99e-051922047b28d294e42b303d1db6060231d84d7b9e4d9fccf
ToppCellPND03-Epithelial-Epithelial_Alveolar|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

TSPAN15 CLTC CA8 COL4A3 COL4A4 PPP1R9A AQP5

3.09e-0519320475dfa69a680a0859900141c40a446d217aaa747d3
ToppCellPND03-Epithelial-Epithelial_Alveolar-Epithelial_Alveolar|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

TSPAN15 CLTC CA8 COL4A3 COL4A4 PPP1R9A AQP5

3.09e-051932047ebea35704ac5d21e947ae094313cf2a5205e7014
ToppCellkidney_cells-Renal_AKI_(acute_kidney_injury)-Endothelial-blood_vessel_endothelial_cell_of_kidney-arteriolar_vasa-recta_endothelial-Descending_Vasa_Recta_Endothelial_Cell|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

FBLN2 HMCN2 PTPRZ1 ROBO4 SHANK3 MSX1 CRYBG3

3.09e-051932047cc355b2ed6510619cad969ae074126d7c8db784d
ToppCell5'-Adult-SmallIntestine-Endothelial-lymphatic_endothelial-LEC3_(ADGRG3+)|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract

ITGA2B AFAP1L1 GDPD5 ROBO4 SHANK3 DLK2 TNS1

3.09e-051932047bd0027fa97de41ae22ff64a61c8e217496f122ca
ToppCellLV-01._Fibroblast_I|LV / Chamber and Cluster_Paper

GALNT15 FBLN2 COL4A3 COL4A4 SOBP CCDC80 SYTL4

3.09e-051932047dc17f3b9758936d428cf17f77a1ce6d4c479b165
ToppCellTCGA-Colorectal-Primary_Tumor-Colorectal_Adenocarcinoma-Colon_Adenocarcinoma-10|TCGA-Colorectal / Sample_Type by Project: Shred V9

GALNT15 TRO NTRK1 CCDC80 TENM4 HMCN1 CHRD

3.09e-051932047194e7fa00a50cc4e026987b715323d125d79594e
ToppCellRV-02._Fibroblast_II|RV / Chamber and Cluster_Paper

FBLN2 ADGRL3 MRTFA COL4A3 COL4A4 SOBP CCDC80

3.20e-05194204711c79a8c56ece42713b04b321982e41e239f07a5
ToppCell10x5'v1-week_17-19-Endothelial|week_17-19 / cell types per 3 fetal stages;per 3',per 5'

GALNT15 MPDZ ALPK3 ROBO4 SHANK3 HMCN1 CHRD

3.20e-051942047e141beafc9252e5d8c949252bfab53e127c881dc
ToppCell10x5'v1-week_17-19-Endothelial-stroma|week_17-19 / cell types per 3 fetal stages;per 3',per 5'

GALNT15 MPDZ ALPK3 ROBO4 SHANK3 HMCN1 CHRD

3.20e-051942047953578102ffc7b612ee8fce45e414750800fef5d
ToppCellLA-02._Fibroblast_II|LA / Chamber and Cluster_Paper

GALNT15 FBLN2 MRTFA COL4A3 COL4A4 SOBP CCDC80

3.20e-051942047234d1494c114cce77c619708bbcd8d5ce805f19b
ToppCell5'-GW_trimst-1.5-SmallIntestine-Endothelial-blood_vessel_EC-Fetal_venous_EC|GW_trimst-1.5 / Celltypes from developing, pediatric, Crohn's, & adult GI tract

GALNT15 GDPD5 FBLN2 CA8 ROBO4 SHANK3 THBD

3.20e-05194204723f2a627226aaed468c55adc42ab22e051dfe7fe
ToppCell5'-Parenchyma_lung-Mesenchymal-Mesenchymal_Myocytic-tracheobronchial_smooth_muscle_cell-Smooth_muscle-Smooth_muscle_L.2.3.0.0|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

SYNPO2 DGKG PTH1R ADGRL3 FLNA CHRD TNS1

3.30e-0519520477155cc12cc6a97efd626bbdb95249fb3d7041dcf
ToppCellPCW_10-12-Epithelial-Epithelial_alveolar-distal-epi_SOX9^high_Etv5^medium_distal_(2)|PCW_10-12 / Celltypes from embryonic and fetal-stage human lung

MYEF2 PTPRZ1 FMN1 HNF1B EPB41L4B PPP1R9A CDH16

3.30e-051952047f08e41706680881ebd0afcd08a02f8ac0089f04e
ToppCell5'-Parenchyma_lung-Mesenchymal-Mesenchymal_Myocytic-tracheobronchial_smooth_muscle_cell-Smooth_muscle|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

SYNPO2 DGKG PTH1R ADGRL3 FLNA CHRD TNS1

3.30e-051952047b3660779f274ca97dd844cf83f62d85ba88cb182
ToppCellLA-02._Fibroblast_II|World / Chamber and Cluster_Paper

GALNT15 FBLN2 HMCN2 COL4A3 COL4A4 SOBP CCDC80

3.30e-051952047a78b605b49acd8c9d68716266ca269dafcd910b9
ToppCellPCW_07-8.5-Endothelial-Endothelial_immature-endo_immature_venous_(4)|PCW_07-8.5 / Celltypes from embryonic and fetal-stage human lung

TSPAN15 HDAC9 AFAP1L1 GDPD5 ROBO4 SHANK3 THBD

3.30e-051952047ca2cf2c10db1ad17aa0a2e30aa7079a7ad751ea6
ToppCelldroplet-Kidney-KIDNEY-1m-Epithelial|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SUCLG1 PTH1R COL4A3 COL4A4 HNF1B TNS1 CDH16

3.41e-051962047d74e899cc120146dded3a20716e22c7aca4f074a
ToppCellTracheal-NucSeq-Stromal-Myofibroblastic-Muscle_smooth_systemic_arterial|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

SYNPO2 DGKG ALPK3 FLNA ADAMTS10 CHRD TNS1

3.64e-0519820477dd874b09c81cc512ccc1e9b65f290a5f94d736e
ToppCellTracheal-NucSeq-Stromal-Myofibroblastic|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

HDAC9 SYNPO2 DGKG ALPK3 ADGRL3 FLNA TNS1

3.64e-051982047c12e7511628db819a52959bb68580e27c00c2e41
ToppCellwk_20-22-Endothelial-Blood_vessel_endothelial-intermediate_cap|wk_20-22 / Celltypes from embryonic and fetal-stage human lung

TSPAN15 AFAP1L1 GDPD5 ADGRL3 ROBO4 SHANK3 THBD

3.64e-051982047a75499f8f1630359b64717c300621aa3b1ab44d4
ToppCellTracheal-NucSeq-Stromal-Myofibroblastic-Muscle_smooth_airway_ASM|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

HDAC9 SYNPO2 DGKG MYEF2 ALPK3 FLNA TNS1

3.64e-05198204722e766df1276c5b14aa0d83f434f47140ebb98ea
ToppCellParenchymal-NucSeq-Epithelial|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

MAST4 FMN1 COL4A3 COL4A4 PPP1R9A REPS2 SNTB1

3.76e-0519920475cea0d9e261903e0eaad60c28a07dff72ce65027
ToppCellSmart-start-Cell-Wel_seq-Non-neoplastic-Glial-Neuronal-OPC-OPC-G|Smart-start-Cell-Wel_seq / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group

ZCCHC24 TRO DGKG FBLN2 STXBP5L PPP1R9A HYDIN

3.76e-05199204719a97e27a4758e794ce7246d295e112b47931a48
DiseaseAlport syndrome, recessive type

COL4A3 COL4A4

4.35e-0521952C2931254
DiseaseAlport syndrome, dominant type

COL4A3 COL4A4

4.35e-0521952C2931253
Diseaseautosomal recessive Alport syndrome (is_implicated_in)

COL4A3 COL4A4

4.35e-0521952DOID:0110033 (is_implicated_in)
DiseaseThin basement membrane disease

COL4A3 COL4A4

4.35e-0521952C0403440
Diseasebenign familial hematuria (is_implicated_in)

COL4A3 COL4A4

4.35e-0521952DOID:0111365 (is_implicated_in)
DiseaseALPORT SYNDROME 2, AUTOSOMAL RECESSIVE

COL4A3 COL4A4

4.35e-0521952C4746745
DiseaseBenign familial hematuria

COL4A3 COL4A4

4.35e-0521952cv:C0241908
Diseaseautosomal recessive Alport syndrome (implicated_via_orthology)

COL4A3 COL4A4

1.30e-0431952DOID:0110033 (implicated_via_orthology)
DiseaseAlport syndrome

COL4A3 COL4A4

1.30e-0431952cv:C1567741
DiseaseCollagen IV-related nephropathies

COL4A3 COL4A4

1.30e-0431952cv:CN076135
Diseasefactor VIII measurement, Ischemic stroke

HDAC9 ABO STXBP5

2.55e-04191953EFO_0004630, HP_0002140
Diseaseplatelet endothelial aggregation receptor 1 measurement

TSPAN15 ABO

2.58e-0441952EFO_0801886
DiseaseHematuria, Benign Familial

COL4A3 COL4A4

2.58e-0441952C0241908
DiseaseAlport Syndrome

COL4A3 COL4A4

2.58e-0441952C1567741
DiseaseMalignant Cystosarcoma Phyllodes

FLNA KMT2D

4.29e-0451952C0600066
DiseasePhyllodes Tumor

FLNA KMT2D

4.29e-0451952C0010701
DiseaseAlport Syndrome, X-Linked

COL4A3 COL4A4

4.29e-0451952C1567742
DiseaseAlport Syndrome, Autosomal Dominant

COL4A3 COL4A4

4.29e-0451952C1567743
DiseaseAlport Syndrome, Autosomal Recessive

COL4A3 COL4A4

4.29e-0451952C1567744
Diseasevenous thromboembolism, tissue plasminogen activator measurement

TSPAN15 ABO STXBP5

4.57e-04231953EFO_0004286, EFO_0004791
Diseasemean platelet volume

HDAC9 ENDOD1 ABO ACOX1 ITGA2B MAST4 UBN1 MRTFA FGD3 CCDC117 PCDHGB5 STXBP5 SHANK3 SYTL4 MCM9 IRS2 ULK2

4.64e-04102019517EFO_0004584
Diseaseobsolete_red blood cell distribution width

ABL1 ABO ZFPM1 MAST4 ZC3H4 DKC1 AFDN DCAF12 CCDC117 XRN2 EP400 BAZ2B NTRK1 SHBG CENPO MON1A SLC4A1 IRS2 EIF2AK4 NUTM2F

6.40e-04134719520EFO_0005192
Diseasehypertensive nephropathy

COL4A3 COL4A4

6.40e-0461952C0848548
Diseasetotal blood protein measurement

ZCCHC24 ABO SPCS3 PKD1 AFDN DCAF12 HNF1B SLC4A1 KMT2D HYDIN

8.60e-0444919510EFO_0004536
DiseaseIschemic stroke, von Willebrand factor measurement

HDAC9 ABO STXBP5

1.01e-03301953EFO_0004629, HP_0002140
Diseasetriacylglycerol 58:10 measurement

MPDZ SPCS3 SOWAHD

1.46e-03341953EFO_0010437
Diseasefactor VIII measurement, venous thromboembolism

TSPAN15 ABO STXBP5

1.46e-03341953EFO_0004286, EFO_0004630
DiseaseSpinocerebellar Ataxia Type 2

CIC TTBK2 PRKCG

1.46e-03341953C0752121
DiseaseSpinocerebellar Ataxia Type 1

CIC TTBK2 PRKCG

1.46e-03341953C0752120
DiseaseSpinocerebellar Ataxia Type 5

CIC TTBK2 PRKCG

1.46e-03341953C0752123
DiseaseSpinocerebellar Ataxia Type 7

CIC TTBK2 PRKCG

1.46e-03341953C0752125
DiseaseSpinocerebellar Ataxia Type 6 (disorder)

CIC TTBK2 PRKCG

1.46e-03341953C0752124
DiseaseAtaxia, Spinocerebellar

CIC TTBK2 PRKCG

1.46e-03341953C0087012
DiseaseCCL2 measurement

HDAC9 ZC3H4 LIMD1 ZBTB47 SLC4A1

1.53e-031261955EFO_0004749
Diseasemalignant epithelial tumor of ovary

SYNPO2 ABO HNF1B

1.59e-03351953MONDO_0018364
DiseaseSpinocerebellar Ataxia Type 4

CIC TTBK2 PRKCG

1.59e-03351953C0752122
Diseaseendometrial endometrioid carcinoma

HNF1B EIF2AK4

2.30e-03111952EFO_1001514
Diseaseeye measurement, sun exposure measurement

HDAC9 DIPK2A

2.30e-03111952EFO_0004731, EFO_0010729
DiseaseInherited neuropathies

TTBK2 NTRK1 PRKCG

2.35e-03401953C0598589
DiseaseProfound Mental Retardation

CIC CA8 SHANK3 BBS7 PRKCG

2.36e-031391955C0020796
DiseaseMental Retardation, Psychosocial

CIC CA8 SHANK3 BBS7 PRKCG

2.36e-031391955C0025363
DiseaseMental deficiency

CIC CA8 SHANK3 BBS7 PRKCG

2.36e-031391955C0917816
Diseaseepilepsy

MAST4 ADGRL3 VRK2

2.52e-03411953EFO_0000474
Diseasevenous thromboembolism, von Willebrand factor measurement

TSPAN15 ABO STXBP5

2.70e-03421953EFO_0004286, EFO_0004629
Diseasecollagen disease (implicated_via_orthology)

COL4A3 COL4A4

2.75e-03121952DOID:854 (implicated_via_orthology)
Diseaseintracranial aneurysm (is_implicated_in)

PKD1 KMT2D

2.75e-03121952DOID:10941 (is_implicated_in)
Diseasephenylacetylglutamine measurement

SCP2 SNTB1

2.75e-03121952EFO_0021013
DiseaseIntellectual Disability

FRMPD4 CIC PYCR1 CA8 PITRM1 SHANK3 BBS7 PRKCG ATIC

3.05e-034471959C3714756
Diseasecognitive function measurement

GALNT15 SYNPO2 FRMPD4 MAP4 DIPK2A SPCS3 MAST4 FMN1 DIAPH3 MRTFA VRK2 TSNARE1 ZBTB9 SHANK3 THBD KMT2D TENM4 ATIC HYDIN

3.18e-03143419519EFO_0008354
Diseaseosteoarthritis, hip

HDAC9 RTP4 RPRD2 SHBG

3.29e-03921954EFO_1000786
Diseasealbuminuria

FMN1 BAHCC1 COL4A3 COL4A4

3.55e-03941954EFO_0004285
Diseasetriacylglycerol 48:4 measurement

ZNF236 TENM4

3.75e-03141952EFO_0010407
Diseasemyopathy (implicated_via_orthology)

COL4A3 COL4A4 FLNA

3.95e-03481953DOID:423 (implicated_via_orthology)
Diseasereticulocyte count

TSPAN15 ZCCHC24 ENDOD1 ABO ZFPM1 ZC3H4 PKD1 DCAF12 SOWAHD PLEKHA4 FAM117B SLC4A1 IRS2 EIF2AK4 TNS1

4.17e-03104519515EFO_0007986
Diseasedelta-6 desaturase measurement

MAST4 DIAPH3

4.31e-03151952EFO_0007765
DiseaseIschemic stroke, tissue plasminogen activator measurement

HDAC9 STXBP5

4.31e-03151952EFO_0004791, HP_0002140
Diseasereticulocyte measurement

TSPAN15 ZCCHC24 ENDOD1 ZFPM1 ZC3H4 AFDN DCAF12 FLNA SOWAHD PLEKHA4 SLC4A1 IRS2 EIF2AK4 TNS1 SLC7A10

4.47e-03105319515EFO_0010700
DiseasePsychotic Disorders

SHANK1 SOBP NTRK1 TENM4

4.59e-031011954C0033975
DiseaseFamilial thoracic aortic aneurysm and aortic dissection

PKD1 FLNA ADAMTS10

5.22e-03531953C4707243
DiseaseAcute Cerebrovascular Accidents

HDAC9 ABO ITGA2B

5.50e-03541953C0751956
DiseaseMetastatic melanoma

ALPK3 CAMK1 ULK2

5.50e-03541953C0278883
Diseaseretinopathy

HDAC9 TENM4

5.54e-03171952EFO_0003839
Diseasethyroxine measurement, triiodothyronine measurement

GALNT15 CCDC80

5.54e-03171952EFO_0005130, EFO_0008392
Diseasethrombomodulin measurement

ABO THBD

5.54e-03171952EFO_0007774
DiseaseIschemic stroke, venous thromboembolism, stroke, Abnormal thrombosis, deep vein thrombosis, pulmonary embolism

TSPAN15 ABO

5.54e-03171952EFO_0000712, EFO_0003827, EFO_0003907, EFO_0004286, HP_0001977, HP_0002140
Diseasevon Willebrand factor measurement

ABO EPB41L4B STXBP5

6.09e-03561953EFO_0004629

Protein segments in the cluster

PeptideGeneStartEntry
HPGTTGLLAGESKAL

AMER3

571

Q8N944
LGGDIHSGTALPTSK

AFDN

536

P55196
GGAGLQPLASPSHIT

EP400

246

Q96L91
SQAGAVHGALGSKPP

EP400

1681

Q96L91
GPTFVPSVGHLADKG

BAHCC1

391

Q9P281
GLTTEPIHKESGPGE

BBS7

316

Q8IWZ6
HGVNPSVSGLSIPGI

CCDC117

111

Q8IWD4
PAGLLPHLSGLEAGA

TFAP2C

121

Q92754
GVEILTPLFGTLHPG

ABO

221

P16442
PAGSPLLVGVGVSHS

C8A

256

P07357
NPGPSEISHVIGDKG

COL4A3

941

Q01955
PGSEASGPHLTGLEL

CRYBG3

746

Q68DQ2
TGDLIKSDPSGHLTG

EIF2AK4

886

Q9P2K8
GGTEGHSPSGILEKI

SLC4A1

206

P02730
SPKGVLEHSGSVGLA

SLC7A10

61

Q9NS82
LNIHPGPGGSLTAVL

ACTR8

191

Q9H981
GHITSLLGPNGAGKT

ABCA12

1371

Q86UK0
GLGTLGTPTALAAHP

BAZ2B

91

Q9UIF8
PSRGSEEHLKSGPGP

ASB10

31

Q8WXI3
PPEGLDSGSGKAHLR

CALHM3

276

Q86XJ0
TPPEGSSKGPAHLVT

ADGRL3

1431

Q9HAR2
GPGSSTKGPVLHDQD

ALPK3

76

Q96L96
KGTKGASGLHDVGPP

COL4A4

1186

P53420
GGLGPLVSLASHPKR

ARMC5

281

Q96C12
FGSGIPEGQHKSVPL

ERVV-2

71

B6SEH9
SSGLSLGKEGPLVHV

CLCN4

216

P51793
VHVLGAAGLKDSPTG

CAPN5

521

O15484
PLPPSKEGGTGHSAL

DIAPH3

561

Q9NSV4
KGPSLSSGLSLPVHP

CASP8AP2

1386

Q9UKL3
PGQVLSSGRHTGPAK

CCDC14

56

Q49A88
SRSNSLPHPAGGGKA

DMWD

491

Q09019
LHGGPKGSRSPEESG

ADAMTS10

161

Q9H324
GSHGGRKVPLVSPDS

CCDC80

31

Q76M96
GPVSGGHINPAITLA

AQP5

61

P55064
GGAHRGLSIPGPLTS

C16orf46

191

Q6P387
LLSSHIPLKGIEPGS

RASA1

691

P20936
TVHPPPSTGLDGAKL

RECK

276

O95980
GELPVGPLNKRSTHG

FMN1

141

Q68DA7
KSGSEGPVLLLLHGG

PPME1

71

Q9Y570
AGTALSPSGHTKLLP

PYCR1

296

P32322
GLGHSKEAAAPAPIG

ABHD14B

71

Q96IU4
KGTHSPPLTPEVAGL

CAPN15

1066

O75808
PGVSAKTAPLSTHPG

MUC16

11841

Q8WXI7
PRLSGSNHSGSPKLG

HS3ST2

96

Q9Y278
LSPTEGKGSGLQGHI

NTRK1

476

P04629
TPSSKPTLLANGGHG

MAP4

76

P27816
DLGTGPKLSPTSLVH

LIMD1

376

Q9UGP4
KGPSSEPLHGQPGVA

HMCN2

1286

Q8NDA2
LSGSGGPPALNHAVL

GDF1

306

P27539
PRPSFSGKLHNTGLG

GALNT15

501

Q8N3T1
GTPPAGLAADSHVKI

ENDOD1

41

O94919
FGSGIPEGQHKSVPL

ERVV-1

71

B6SEH8
TGPEGVTHAPSLGKA

FBLN2

351

P98095
GVGTHLTSLALPGKA

PER2

646

O15055
GPSGVLDVKPGSHVV

PLXNA3

1131

P51805
GAGHPATKLPPDSLG

ZFPM1

386

Q8IX07
VKDGSILSHPALPGT

NRDE2

451

Q9H7Z3
HGSLAPLGPSRGKGV

PHRF1

756

Q9P1Y6
PTLGHFLLGPDGEKV

KIAA2012

591

Q0VF49
AKHLGVSGASLGVPL

LMLN2

361

A0A1B0GTW7
FLTGPPGVGKTTLIH

NTPCR

6

Q9BSD7
PVGPRGGGSHTKTLI

GDPD5

586

Q8WTR4
TKHPGKRLGSGPDGE

PRKCG

591

P05129
SPDIGPTGELSGSLK

FGD3

56

Q5JSP0
TPGLGHKESALAPTA

GGN

466

Q86UU5
GAGTPSPVRLHALAG

NSUN5P1

56

Q3KNT7
SDKVPLHASLPVAGG

PTPRZ1

851

P23471
VLTALDGGHPPLSGT

PCDHGB5

211

Q9Y5G0
DGGHPPLSGTTELRI

PCDHGB5

216

Q9Y5G0
NGKDGTGSHLVTVPP

PIPSL

646

A2A3N6
GHPPGFITDGNSKLV

PKD1L2

2011

Q7Z442
HPLTSSDKVLILPGG

HMCN1

2816

Q96RW7
TGEGGPVATLSKPSL

NUTM1

186

Q86Y26
ALAGGPAPTEKTPHS

NUTM1

1076

Q86Y26
HLLTGNGTEVPLSGP

FAM171A2

216

A8MVW0
TASHGELLTPVAGGP

CAMK1

331

Q14012
PGKLPGLFDVGHVTE

MYO15B

236

Q96JP2
PQGHEAETPGKTKGL

OPN4

456

Q9UHM6
GHPVGSLDGLLSPEA

IRS2

996

Q9Y4H2
SGDSHKEGTRGPPPL

MON1A

166

Q86VX9
DGGSPPKSGTTLVLI

PCDHB14

216

Q9Y5E9
SPPGDGSVSKGHANI

BECN2

66

A8MW95
PSGPAPAHSLGDLKG

FAM189B

566

P81408
GTHPLLVLVNPKSGG

DGKG

431

P49619
EIGTHKPLPGITVGD

ACOX1

211

Q15067
GIAIIIHGTPLSGKS

HYDIN

2036

Q4G0P3
VSTLGDPGPHGFLRK

CAPN7

746

Q9Y6W3
TKLFVAGGPLPSGLH

DCAF12

431

Q5T6F0
GPGVAKTGLKAHEPT

FLNA

776

P21333
HLSKPVAPGSAPLGS

C1orf226

21

A1L170
PSLGKHLIPDASGKG

FRMPD4

1241

Q14CM0
GTSGGLLHDPPSEIA

DIPK2A

376

Q8NDZ4
KGVLHAGPGRGSSLP

DENND11

196

A4D1U4
LLPTPDLTLKGSGHS

FAM117B

521

Q6P1L5
PVLPSEAKFLGSGTG

EXTL3

621

O43909
KSVLSGGPLPQGHEF

CA8

96

P35219
LGTKLSALLPHGAPG

CRYBG2

926

Q8N1P7
RAGLGHISPEGPLSL

DLGAP3

51

O95886
PASGLPHKEEAGKGS

ABL1

826

P00519
PHKEEAGKGSALGTP

ABL1

831

P00519
PPLLRKTDQDHGGTG

C17orf98

61

A8MV24
PKPGGAHSLALVTVP

MAN2C1

641

Q9NTJ4
IRPSTLHGLAPKLGG

MAST4

1346

O15021
GATPGGKPTAIHQLL

KANSL3

816

Q9P2N6
PLRPDGESKGGVLAH

CENPO

6

Q9BU64
LHGPGPVGALSSLAQ

ELP5

171

Q8TE02
GPAPHSAGAGLLRIS

DLK2

276

Q6UY11
LEGHTPPLGGYKVTA

HDAC9

916

Q9UKV0
SSGLGLQPETHLPEG

GLIS1

46

Q8NBF1
GHSEIPTLPDGLLGL

CEP295

1431

Q9C0D2
GLLDKHGKPTDSTPA

DKC1

396

O60832
NGKDGTGSHLVTVPP

PSMD4

161

P55036
LAAPTGHPPTSGVEK

RPRD2

981

Q5VT52
IGKPLLGGPFSLTTH

SCO1

131

O75880
AKGGGTHPLLVPYDT

RYR1

2896

P21817
TDIGLEPGSGLKSPS

CFAP47

666

Q6ZTR5
SPHKSEGKGLLSPGA

EPB41L4B

726

Q9H329
SKHGLDVALPTAGPV

PERM1

406

Q5SV97
VSGPSKDPDLASGHG

CDH16

686

O75309
GKPGSSPITKHGLSS

MED1

1151

Q15648
ISPSHSRPPGGSDKL

MED1

1191

Q15648
KHGVVTSGPGGEDPL

MED1

1311

Q15648
TLVGPHGPLASGQLA

PKD1

276

P98161
VKVSAPSGTGHLPGL

PSG3

411

Q16557
SGGGLPPVSTLTNIH

HNF1B

406

P35680
SHLLLVGDPGTGKSQ

MCM9

346

Q9NXL9
ALGLPGESPVKESHG

NUTM2F

611

A1L443
ALGLPGESPVKESHG

NUTM2G

596

Q5VZR2
SLLPHLKTGNSSPGI

RTP4

176

Q96DX8
AESPTGLPSHKGELV

SYTL4

486

Q96C24
SGHQKPLPTVPGGLS

TCP11L1

456

Q9NUJ3
LSLKLVHVAGPGPTG

STK11IP

86

Q8N1F8
LATRLVHSGPGKGSP

SNTB1

376

Q13884
TPPAVGLVHSGLLIG

THBD

506

P07204
APGLVAALHIVGGTP

SPATA5L1

156

Q9BVQ7
EGPQGAKSAHTLGPT

TCOF1

1161

Q13428
KAEVPGATGGDSPHL

MYEF2

6

Q9P2K5
QLPLGTPHGISDILG

NKX6-2

51

Q9C056
TPHGISDILGRPVGA

NKX6-2

56

Q9C056
SPRPLGHFSVGGLLK

MSX1

111

P28360
GDKDLASPHLGLGSP

PLEKHA4

546

Q9H4M7
EKGATGISLSPHLPG

TAF1C

336

Q15572
TGKSTHGLAILGPEN

PITRM1

1011

Q5JRX3
GSGHLLALGTPENPS

SHBG

261

P04278
VPNAGILPLVTGSGH

SPCS3

151

P61009
GILGKGLALSHSPTI

MYCBP2

2206

O75592
SAPGSGGLTPLHLAA

SOWAHD

181

A6NJG2
RGPHALGAPSLLLTG

ITGA2B

366

P08514
GTTLNLDLGGKHSPI

ITGA2B

561

P08514
PSGGLISKGHPLGAT

SCP2

346

P22307
GKASRSLAQHIPGPG

STXBP5

1071

Q5T5C0
STGLPLLTSGHDGPE

MRTFA

821

Q969V6
TTPGKGGQTHLGLPV

SUCLG1

86

P53597
GKASRSLAQHIPGPG

STXBP5L

1106

Q9Y2K9
KPLALQPGRHTVSGG

ROBO4

176

Q8WZ75
SESPGPGGLASLGKH

SHANK1

836

Q9Y566
LAGGPALGLSVSSKP

AFAP1L1

701

Q8TED9
APHLVAGPLLGTVGK

CIC

741

Q96RK0
GKLHIIEVGTPPTGN

CLTC

226

Q00610
GSEQGTVTAHLLGPP

CHRD

576

Q9H2X0
PALPGSKGVLTSGHQ

PIAS3

476

Q9Y6X2
IGPGPADLIDKVTGH

PTRH2

161

Q9Y3E5
LLLPESKGGSSEPGT

RNF213

241

Q63HN8
TLRPKHGGTTDVGEP

URGCP

591

Q8TCY9
DSSPKEGAHGLVGVP

RNF149

66

Q8NC42
SEHSVIKPPLGDSPG

WDR47

566

O94967
SGDRPAVGHSGLKPL

ZC3H3

416

Q8IXZ2
AVGHSGLKPLSGETP

ZC3H3

421

Q8IXZ2
PKKPQDLAHTGISSG

UBN2

841

Q6ZU65
DLRKAAHGPSPGSGK

TSNARE1

201

Q96NA8
ERHKGASGPLVALPG

SYNPO2

206

Q9UMS6
VLPEGPVGHSGKLFS

MPDZ

581

O75970
DLITLGSGIPPHGID

MMP16

426

P51512
SEKLQHGRGPPTAGS

MYCN

131

P04198
SGGPGTKPLRHQASL

REPS2

241

Q8NFH8
LSPSGIGGVSPRHAL

SAMD4B

591

Q5PRF9
LGPSGSTFIHPLTGK

SHANK3

1086

Q9BYB0
PTGHEGGTIQLKSPL

TRO

156

Q12816
GHAKPGTPALETLET

PTH1R

536

Q03431
GPGTHPAGISDLLAE

SLC27A3

246

Q5K4L6
AAAGGKPSGHSLSPR

SOBP

571

A7XYQ1
HSVTDGLLGPGAKPS

TSPAN15

266

O95858
VGVSPDKLPGSLGHP

TTBK2

361

Q6IQ55
GILTPHALGSRNSPG

XRN2

436

Q9H0D6
AIASPGSPSLGRHLG

TNS1

1291

Q9HBL0
HPGPESSLPSGALSK

ZNF395

381

Q9H8N7
KPGPSEGDLAILGLS

TENM4

2621

Q6N022
LAHGLSLEAPTVGKG

SEZ6

16

Q53EL9
KGPASGSTHGGEPLL

SPTBN4

2461

Q9H254
SPVKLHLSLSLGSGG

VPS13C

3331

Q709C8
GHTGGKISPVPYEDL

TBC1D30

706

Q9Y2I9
LGETSAGPGKSLPVF

VSIG4

271

Q9Y279
KHVSPAGAAVGIPLS

ATIC

266

P31939
GLGPVSTLPSLHGKQ

WDR6

556

Q9NNW5
SHTLAGDGVPAAPGL

ZBTB47

686

Q9UFB7
SSGLGDPRLQKGHPT

ZC3H4

841

Q9UPT8
AVHGPVKLGGTPPAD

ZBTB9

366

Q96C00
SRPGSLGTSPTKHLG

ULK2

566

Q8IYT8
PHGVALDPTKPGSLV

ZNF503

376

Q96F45
LTSGAGLLPGLGSHP

WFIKKN1

16

Q96NZ8
PLSSSPVEHEGVLKG

ZNF852

141

Q6ZMS4
LGKDHLPSSPGLLTV

nan

206

A8MUA0
SLPGASQLHGKGPAV

UBN1

1116

Q9NPG3
SHSGGSGDEAPKLPQ

XRCC1

416

P18887
QGLVSPSGGPHEITL

ZNF236

1481

Q9UL36
AELHKETTGPGTAGP

TASOR2

1701

Q5VWN6
QSGGAKVLPGHSVPL

TOPBP1

1416

Q92547
GHPEVTTATGLLGQP

SON

526

P18583
FGTGTHVKLPGPAPD

SSU72

36

Q9NP77
GHGLLSGEYSKPVPE

USP5

381

P45974
HGIPLGPLDFSTKGQ

VRK2

316

Q86Y07
KTGSPGPELLFHEGQ

ZMYM3

461

Q14202
GSTVPLGQPGLSGHK

ZAR1L

16

A6NP61
GLGHSTGTLQKPPND

ZNF518B

716

Q9C0D4
GKGRPEQLGSPLHSS

ZCCHC24

56

Q8N2G6
SSGTHLGGLELKTPD

KMT2D

2311

O14686
PAGGESATVAAKGHP

NAA30

56

Q147X3
DLSGLGAEPKTPGLS

PPP1R9A

936

Q9ULJ8