Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunction1-alkylglycerophosphocholine O-acetyltransferase activity

LPCAT1 LPCAT4 LPCAT2

1.72e-0731123GO:0047192
GeneOntologyMolecularFunctionpeptidase activity

MBTPS1 PSEN2 ACR RNPEPL1 CAPN1 MMP23B CASP9 ERVK-7 TINAGL1 MINDY3 ADAMTS6 AOPEP ADAMTS16 USP15 CTSZ

3.78e-0665411215GO:0008233
GeneOntologyMolecularFunction1-acylglycerol-3-phosphate O-acyltransferase activity

LPCAT1 AGPAT5 LPCAT4 LPCAT2

5.21e-06211124GO:0003841
GeneOntologyMolecularFunctionlysophosphatidic acid acyltransferase activity

LPCAT1 AGPAT5 LPCAT4 LPCAT2

9.14e-06241124GO:0042171
GeneOntologyMolecularFunctionlysophospholipid acyltransferase activity

LPCAT1 AGPAT5 LPCAT4 LPCAT2

9.14e-06241124GO:0071617
GeneOntologyMolecularFunction1-acylglycerophosphocholine O-acyltransferase activity

LPCAT1 LPCAT4 LPCAT2

9.42e-0681123GO:0047184
GeneOntologyMolecularFunctionO-acetyltransferase activity

LPCAT1 LPCAT4 LPCAT2

1.41e-0591123GO:0016413
GeneOntologyMolecularFunction2-acylglycerol-3-phosphate O-acyltransferase activity

LPCAT1 LPCAT4 LPCAT2

1.41e-0591123GO:0047144
GeneOntologyMolecularFunctionacylglycerol O-acyltransferase activity

LPCAT1 AGPAT5 LPCAT4 LPCAT2

2.99e-05321124GO:0016411
GeneOntologyMolecularFunctionendopeptidase activity

MBTPS1 PSEN2 ACR CAPN1 MMP23B CASP9 ERVK-7 ADAMTS6 ADAMTS16 USP15 CTSZ

3.03e-0543011211GO:0004175
GeneOntologyMolecularFunctionplasmalogen synthase activity

LPCAT1 LPCAT2

3.12e-0521122GO:0047159
GeneOntologyMolecularFunctionO-acyltransferase activity

LPCAT1 AGPAT5 LPCAT4 LPCAT2

3.37e-04591124GO:0008374
GeneOntologyMolecularFunctioncysteine-type peptidase activity

CAPN1 CASP9 TINAGL1 MINDY3 USP15 CTSZ

7.52e-041921126GO:0008234
GeneOntologyMolecularFunctioncholine transmembrane transporter activity

SLC5A7 SLC44A1

8.54e-0481122GO:0015220
GeneOntologyMolecularFunctionmetallopeptidase activity

MBTPS1 RNPEPL1 MMP23B ADAMTS6 AOPEP ADAMTS16

9.30e-042001126GO:0008237
GeneOntologyMolecularFunctiongap junction channel activity involved in cell communication by electrical coupling

GJB6 GJB2

1.09e-0391122GO:1903763
GeneOntologyMolecularFunctiondynein intermediate chain binding

DNAH1 DNAH5 HTT

1.16e-03371123GO:0045505
GeneOntologyMolecularFunctioncysteine-type endopeptidase activity

CAPN1 CASP9 USP15 CTSZ

1.40e-03861124GO:0004197
GeneOntologyBiologicalProcessglycerolipid biosynthetic process

LPCAT1 AGPAT5 PIGS LPCAT4 SREBF1 PTDSS2 SLC44A1 LPCAT2 CLN3 PLD2

1.74e-0626811010GO:0045017
GeneOntologyBiologicalProcessglycerophospholipid biosynthetic process

LPCAT1 AGPAT5 PIGS LPCAT4 PTDSS2 SLC44A1 LPCAT2 CLN3 PLD2

2.48e-062171109GO:0046474
GeneOntologyBiologicalProcessglycerophospholipid metabolic process

LPCAT1 AGPAT5 PIGS LPCAT4 PTDSS2 SLC44A1 LPCAT2 CLN3 PLA2G4F PLD2

8.36e-0632011010GO:0006650
GeneOntologyBiologicalProcessphosphatidylglycerol acyl-chain remodeling

LPCAT1 LPCAT4 PLA2G4F

1.21e-0591103GO:0036148
GeneOntologyBiologicalProcessphospholipid biosynthetic process

LPCAT1 AGPAT5 PIGS LPCAT4 PTDSS2 SLC44A1 LPCAT2 CLN3 PLD2

1.37e-052681109GO:0008654
GeneOntologyBiologicalProcessglycerolipid metabolic process

LPCAT1 AGPAT5 PIGS LPCAT4 SREBF1 PTDSS2 SLC44A1 LPCAT2 CLN3 PLA2G4F PLD2

1.86e-0542911011GO:0046486
GeneOntologyBiologicalProcesslipid biosynthetic process

B3GALT1 MBTPS1 LPCAT1 AGPAT5 PIGS LPCAT4 SREBF1 PTDSS2 SLC44A1 LPCAT2 CLN3 UGCG PLA2G4F PLD2 LARGE1

2.72e-0581311015GO:0008610
GeneOntologyBiologicalProcessphosphatidic acid biosynthetic process

LPCAT1 AGPAT5 LPCAT4 PLD2

3.95e-05361104GO:0006654
GeneOntologyBiologicalProcessphosphatidylcholine acyl-chain remodeling

LPCAT1 LPCAT4 LPCAT2

5.15e-05141103GO:0036151
GeneOntologyBiologicalProcessphosphatidic acid metabolic process

LPCAT1 AGPAT5 LPCAT4 PLD2

6.66e-05411104GO:0046473
GeneOntologyBiologicalProcessphospholipid metabolic process

LPCAT1 AGPAT5 PIGS LPCAT4 PTDSS2 SLC44A1 LPCAT2 CLN3 PLA2G4F PLD2

6.91e-0541011010GO:0006644
GeneOntologyCellularComponentcaspase complex

PIGS CAPN1 CASP9

1.52e-05101073GO:0008303
GeneOntologyCellularComponentnuclear outer membrane-endoplasmic reticulum membrane network

MBTPS1 LPCAT1 DPY19L3 AGPAT5 PSEN2 VPS13C PIGS MMP23B LPCAT4 SREBF1 ABCB6 PTDSS2 LPCAT2 CLN3 VPS13A NAV3 PLD2 GABBR1

1.31e-04132710718GO:0042175
GeneOntologyCellularComponentsecretory vesicle

LPCAT1 PSEN2 VPS13C ACR CAPN1 SLC5A7 ITGA2B PTPRB ABCC8 CLN3 VPS13A LRP1 RACGAP1 TMEM95 DNASE1 CTSZ GABBR1

1.92e-04124610717GO:0099503
GeneOntologyCellularComponentendoplasmic reticulum membrane

MBTPS1 LPCAT1 DPY19L3 AGPAT5 PSEN2 VPS13C PIGS MMP23B LPCAT4 SREBF1 ABCB6 PTDSS2 LPCAT2 CLN3 VPS13A PLD2 GABBR1

2.97e-04129310717GO:0005789
GeneOntologyCellularComponentendoplasmic reticulum subcompartment

MBTPS1 LPCAT1 DPY19L3 AGPAT5 PSEN2 VPS13C PIGS MMP23B LPCAT4 SREBF1 ABCB6 PTDSS2 LPCAT2 CLN3 VPS13A PLD2 GABBR1

3.13e-04129910717GO:0098827
GeneOntologyCellularComponentGolgi membrane

B3GALT1 MBTPS1 LPCAT1 PSEN2 SREBF1 RER1 ABCB6 LPCAT2 CLN3 CHST4 UGCG LARGE1

3.21e-0472110712GO:0000139
GeneOntologyCellularComponentorganelle outer membrane

AGPAT5 VPS13C ABCB6 ARMCX3 SLC44A1 VPS13A NAV3

5.86e-042791077GO:0031968
GeneOntologyCellularComponentouter membrane

AGPAT5 VPS13C ABCB6 ARMCX3 SLC44A1 VPS13A NAV3

6.11e-042811077GO:0019867
HumanPhenoHyperkeratotic papule

COL7A1 GJB6 GJB2 LRP1

3.59e-0613454HP:0045059
HumanPhenoPosterior blepharitis

GJB6 SREBF1 GJB2

2.20e-057453HP:0025610
DomainAcyltransferase

LPCAT1 AGPAT5 LPCAT4 LPCAT2

1.96e-06161104PF01553
DomainPlsC

LPCAT1 AGPAT5 LPCAT4 LPCAT2

2.56e-06171104SM00563
DomainPlipid/glycerol_acylTrfase

LPCAT1 AGPAT5 LPCAT4 LPCAT2

2.56e-06171104IPR002123
DomainVPS13

VPS13C VPS13A

1.03e-0431102IPR026847
DomainVPS13_mid_rpt

VPS13C VPS13A

1.03e-0431102PF16910
DomainVPS13

VPS13C VPS13A

1.03e-0431102PF16908
DomainVPS13_N2

VPS13C VPS13A

1.03e-0431102IPR031646
DomainVPS13_mid_rpt

VPS13C VPS13A

1.03e-0431102IPR031642
DomainSHR-BD

VPS13C VPS13A

2.05e-0441102IPR009543
DomainPeptidase_M1_C

RNPEPL1 AOPEP

2.05e-0441102IPR015211
DomainLeuk-A4-hydro_C

RNPEPL1 AOPEP

2.05e-0441102SM01263
DomainVPS13_C

VPS13C VPS13A

2.05e-0441102PF16909
DomainLeuk-A4-hydro_C

RNPEPL1 AOPEP

2.05e-0441102PF09127
DomainVPS13_C

VPS13C VPS13A

2.05e-0441102IPR031645
DomainSHR-BD

VPS13C VPS13A

2.05e-0441102PF06650
DomainZINC_PROTEASE

RNPEPL1 MMP23B ADAMTS6 AOPEP ADAMTS16

2.84e-04981105PS00142
DomainAutophagy-rel_C

VPS13C VPS13A

3.40e-0451102IPR015412
DomainATG_C

VPS13C VPS13A

3.40e-0451102PF09333
DomainTHIOL_PROTEASE_HIS

CAPN1 TINAGL1 CTSZ

5.25e-04271103PS00639
DomainPept_cys_AS

CAPN1 TINAGL1 CTSZ

5.85e-04281103IPR000169
DomainChorein_N

VPS13C VPS13A

9.40e-0481102PF12624
DomainVPS13_N

VPS13C VPS13A

9.40e-0481102IPR026854
Domain-

TENM1 LRP1 LRP5

1.56e-033911032.120.10.30
DomainARM-rpt_dom

GPRASP1 ARMCX3

1.83e-03111102IPR006911
DomainArm_2

GPRASP1 ARMCX3

1.83e-03111102PF04826
DomainPeptidase_M1

RNPEPL1 AOPEP

2.18e-03121102IPR001930
Domain6-blade_b-propeller_TolB-like

TENM1 LRP1 LRP5

2.51e-03461103IPR011042
DomainPeptidase_M1_N

RNPEPL1 AOPEP

2.57e-03131102IPR014782
DomainPept_C1

TINAGL1 CTSZ

2.57e-03131102SM00645
DomainPeptidase_C1A_C

TINAGL1 CTSZ

2.57e-03131102IPR000668
DomainPeptidase_C1

TINAGL1 CTSZ

2.57e-03131102PF00112
DomainPeptidase_M1

RNPEPL1 AOPEP

2.57e-03131102PF01433
DomainPeptidase_C1A

TINAGL1 CTSZ

2.57e-03131102IPR013128
DomainDynein_heavy_chain_D4_dom

DNAH1 DNAH5

2.99e-03141102IPR024317
DomainDynein_HC_stalk

DNAH1 DNAH5

2.99e-03141102IPR024743
DomainDynein_heavy_dom-2

DNAH1 DNAH5

2.99e-03141102IPR013602
DomainDHC_N2

DNAH1 DNAH5

2.99e-03141102PF08393
DomainATPase_dyneun-rel_AAA

DNAH1 DNAH5

2.99e-03141102IPR011704
DomainPLAC

ADAMTS6 ADAMTS16

2.99e-03141102PF08686
DomainMT

DNAH1 DNAH5

2.99e-03141102PF12777
DomainAAA_8

DNAH1 DNAH5

2.99e-03141102PF12780
DomainLdl_recept_b

LRP1 LRP5

2.99e-03141102PF00058
DomainLDLRB

LRP1 LRP5

2.99e-03141102PS51120
DomainAAA_5

DNAH1 DNAH5

2.99e-03141102PF07728
DomainDHC_fam

DNAH1 DNAH5

3.43e-03151102IPR026983
DomainBeta/gamma_crystallin

CRYBB1 CRYBB2

3.43e-03151102IPR001064
DomainDynein_heavy

DNAH1 DNAH5

3.43e-03151102PF03028
DomainLY

LRP1 LRP5

3.43e-03151102SM00135
DomainCRYSTALLIN_BETA_GAMMA

CRYBB1 CRYBB2

3.43e-03151102PS50915
DomainDynein_heavy_dom

DNAH1 DNAH5

3.43e-03151102IPR004273
DomainCrystall

CRYBB1 CRYBB2

3.43e-03151102PF00030
DomainXTALbg

CRYBB1 CRYBB2

3.43e-03151102SM00247
DomainLDLR_classB_rpt

LRP1 LRP5

3.43e-03151102IPR000033
DomainARM-type_fold

GPRASP1 RNPEPL1 TRIP12 ARMCX3 AOPEP TAF6 HTT

3.94e-033391107IPR016024
DomainG_crystallin-rel

CRYBB1 CRYBB2

4.95e-03181102IPR011024
DomainCONNEXINS_1

GJB6 GJB2

5.51e-03191102PS00407
DomainPLAC

ADAMTS6 ADAMTS16

5.51e-03191102PS50900
DomainPLAC

ADAMTS6 ADAMTS16

5.51e-03191102IPR010909
PathwayREACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS

LPCAT1 AGPAT5 LPCAT4 PTDSS2 SLC44A1 LPCAT2 PLA2G4F PLD2

3.43e-07120798MM14585
PathwayREACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS

LPCAT1 AGPAT5 LPCAT4 PTDSS2 SLC44A1 LPCAT2 PLA2G4F PLD2

5.64e-07128798M706
PathwayREACTOME_PHOSPHOLIPID_METABOLISM

LPCAT1 AGPAT5 LPCAT4 PTDSS2 SLC44A1 LPCAT2 PLEKHA5 PLA2G4F PLD2

1.44e-06196799MM14591
PathwayREACTOME_PHOSPHOLIPID_METABOLISM

LPCAT1 AGPAT5 LPCAT4 PTDSS2 SLC44A1 LPCAT2 PLEKHA5 PLA2G4F PLD2

2.64e-06211799M649
PathwayREACTOME_ACYL_CHAIN_REMODELLING_OF_PC

LPCAT1 LPCAT4 LPCAT2 PLA2G4F

1.45e-0527794M643
PathwayREACTOME_ACYL_CHAIN_REMODELLING_OF_PC

LPCAT1 LPCAT4 LPCAT2 PLA2G4F

1.69e-0528794MM14575
PathwayKEGG_ETHER_LIPID_METABOLISM

LPCAT1 LPCAT4 LPCAT2 PLD2

3.30e-0533794M2130
PathwayREACTOME_SYNTHESIS_OF_PA

LPCAT1 AGPAT5 LPCAT4 PLD2

6.47e-0539794M653
PathwayKEGG_GLYCEROPHOSPHOLIPID_METABOLISM

LPCAT1 LPCAT4 PTDSS2 LPCAT2 PLD2

7.01e-0577795M9131
PathwayREACTOME_SYNTHESIS_OF_PA

LPCAT1 AGPAT5 LPCAT4 PLD2

7.90e-0541794MM14583
PathwayREACTOME_ACYL_CHAIN_REMODELLING_OF_PG

LPCAT1 LPCAT4 PLA2G4F

1.30e-0418793M700
PathwayREACTOME_ACYL_CHAIN_REMODELLING_OF_PG

LPCAT1 LPCAT4 PLA2G4F

1.54e-0419793MM14581
PathwayREACTOME_METABOLISM_OF_LIPIDS

MBTPS1 LPCAT1 AGPAT5 LPCAT4 SREBF1 PTDSS2 SLC44A1 LPCAT2 UGCG PLEKHA5 PLA2G4F PLD2

1.62e-046207912MM15193
PathwayBIOCARTA_S1P_PATHWAY

MBTPS1 SREBF1

4.58e-046792MM1556
PathwayREACTOME_REGULATION_OF_CHOLESTEROL_BIOSYNTHESIS_BY_SREBP_SREBF

MBTPS1 SREBF1

6.39e-047792MM14639
PathwayWP_ALZHEIMERS_DISEASE

PSEN2 CAPN1 CASP9 LRP1

7.81e-0474794MM15962
Pubmed

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1.

COL7A1 MBTPS1 NPR1 DPY19L3 PIGS HTATIP2 LPCAT4 SREBF1 RER1 PTDSS2 BTN2A1 BMPR2 LPCAT2 RRAGA LRP1 LRP5 PLEKHA5 USP15 CTSZ HTT

2.20e-0912011142035696571
Pubmed

Mammalian acyl-CoA:lysophosphatidylcholine acyltransferase enzymes.

LPCAT1 LPCAT4 LPCAT2

3.43e-083114318156367
Pubmed

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

DIP2B MBTPS1 VPS13C CAPN1 DNAH1 PCNX2 TMCO4 BMPR2 PTPRB AOPEP RALGPS1 ABCC8 SMARCA2 LRP1 LRP5 KYAT3 USP15 TMEM181 HTT

3.75e-0714891141928611215
Pubmed

HIV-1 Tat interaction with cyclin T1 represses mannose receptor and the bone morphogenetic protein receptor-2 transcription.

MRC1 HTATIP2 BMPR2

6.81e-076114316615932
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.

MBTPS1 UNC5A ZBED4 SLIT1 NAV3 TCF25 USP15 TMEM181 LARGE1

8.28e-06407114912693553
Pubmed

The interaction between C5a and sphingosine-1-phosphate in neutrophils for antineutrophil cytoplasmic antibody mediated activation.

MBTPS1 C5

1.07e-052114225000985
Pubmed

Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications.

GJB6 GJB2

1.07e-052114223700267
Pubmed

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

GJB6 GJB2

1.07e-052114220236118
Pubmed

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

GJB6 GJB2

1.07e-052114220022641
Pubmed

GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.

GJB6 GJB2

1.07e-052114219887791
Pubmed

Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30.

GJB6 GJB2

1.07e-052114220442751
Pubmed

Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness.

GJB6 GJB2

1.07e-052114217368814
Pubmed

Connexin Type and Fluorescent Protein Fusion Tag Determine Structural Stability of Gap Junction Plaques.

GJB6 GJB2

1.07e-052114226265468
Pubmed

GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.

GJB6 GJB2

1.07e-052114225288386
Pubmed

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

GJB6 GJB2

1.07e-052114212172392
Pubmed

Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss.

GJB6 GJB2

1.07e-052114222281373
Pubmed

Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.

GJB6 GJB2

1.07e-052114224774219
Pubmed

GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.

GJB6 GJB2

1.07e-052114220381175
Pubmed

The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.

GJB6 GJB2

1.07e-052114231200317
Pubmed

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.

GJB6 GJB2

1.07e-052114214759569
Pubmed

Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.

GJB6 GJB2

1.07e-052114220563649
Pubmed

Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population.

GJB6 GJB2

1.07e-052114215638823
Pubmed

Decreased expression of connexin-30 and aberrant expression of connexin-26 in human head and neck cancer.

GJB6 GJB2

1.07e-052114217695503
Pubmed

Performance of speech perception after cochlear implantation in DFNB1 patients.

GJB6 GJB2

1.07e-052114219051073
Pubmed

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

GJB6 GJB2

1.07e-052114211668644
Pubmed

Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.

GJB6 GJB2

1.07e-052114218294049
Pubmed

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.

GJB6 GJB2

1.07e-052114219173109
Pubmed

Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.

GJB6 GJB2

1.07e-052114215964725
Pubmed

Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification.

GJB6 GJB2

1.07e-052114219715470
Pubmed

Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice.

GJB6 GJB2

1.07e-052114212859965
Pubmed

GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.

GJB6 GJB2

1.07e-052114215345117
Pubmed

Permeation pathway of homomeric connexin 26 and connexin 30 channels investigated by molecular dynamics.

GJB6 GJB2

1.07e-052114222292956
Pubmed

GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.

GJB6 GJB2

1.07e-052114223434199
Pubmed

Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment.

GJB6 GJB2

1.07e-052114219465004
Pubmed

Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.

GJB6 GJB2

1.07e-052114215464308
Pubmed

Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.

GJB6 GJB2

1.07e-052114215464305
Pubmed

Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil.

GJB6 GJB2

1.07e-052114223553242
Pubmed

Connexin-Mediated Signaling in Nonsensory Cells Is Crucial for the Development of Sensory Inner Hair Cells in the Mouse Cochlea.

GJB6 GJB2

1.07e-052114228077706
Pubmed

Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness.

GJB6 GJB2

1.07e-052114217227867
Pubmed

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

GJB6 GJB2

1.07e-052114211896458
Pubmed

Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey.

GJB6 GJB2

1.07e-052114223171692
Pubmed

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.

GJB6 GJB2

1.07e-052114219371219
Pubmed

Nonsyndromic Hearing Loss and Deafness, DFNA3 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

GJB6 GJB2

1.07e-052114220301708
Pubmed

Mice with conditional deletion of Cx26 exhibit no vestibular phenotype despite secondary loss of Cx30 in the vestibular end organs.

GJB6 GJB2

1.07e-052114226232528
Pubmed

Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear.

GJB6 GJB2

1.07e-052114219047647
Pubmed

Polyglutamine-modulated striatal calpain activity in YAC transgenic huntington disease mouse model: impact on NMDA receptor function and toxicity.

CAPN1 HTT

1.07e-052114219036965
Pubmed

Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13.

NELFCD CTSZ

1.07e-052114211030415
Pubmed

Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.

GJB6 GJB2

1.07e-052114226075227
Pubmed

Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.

GJB6 GJB2

1.07e-052114221287563
Pubmed

Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.

GJB6 GJB2

1.07e-052114216125251
Pubmed

Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population.

GJB6 GJB2

1.07e-052114219719946
Pubmed

DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome.

GJB6 GJB2

1.07e-052114220650534
Pubmed

Super-resolution structured illumination fluorescence microscopy of the lateral wall of the cochlea: the Connexin26/30 proteins are separately expressed in man.

GJB6 GJB2

1.07e-052114226941236
Pubmed

Analysis of connexin subunits required for the survival of vestibular hair cells.

GJB6 GJB2

1.07e-052114217702002
Pubmed

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

GJB6 GJB2

1.07e-052114220613545
Pubmed

Expression of gap junction proteins connexins 26, 30, and 43 in Dupuytren's disease.

GJB6 GJB2

1.07e-052114224359029
Pubmed

Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration.

CRYBB1 CRYBB2

1.07e-052114220565250
Pubmed

Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells.

GJB6 GJB2

1.07e-052114212767933
Pubmed

Molecular interactions between presenilin and calpain: inhibition of m-calpain protease activity by presenilin-1, 2 and cleavage of presenilin-1 by m-, mu-calpain.

PSEN2 CAPN1

1.07e-052114210677567
Pubmed

Identification of a novel noninflammatory biosynthetic pathway of platelet-activating factor.

LPCAT1 LPCAT2

1.07e-052114218285344
Pubmed

Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.

GJB6 GJB2

1.07e-052114231162818
Pubmed

First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.

GJB6 GJB2

1.07e-052114228012540
Pubmed

The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis.

GJB6 GJB2

1.07e-052114219723508
Pubmed

A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region.

GJB6 GJB2

1.07e-052114223503914
Pubmed

[New recurrent extended deletion, including GJB2 and GJB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive type of inheritance].

GJB6 GJB2

1.07e-052114225715449
Pubmed

Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.

GJB6 GJB2

1.07e-052114216222667
Pubmed

NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population.

NELFCD CTSZ

1.07e-052114229795304
Pubmed

Connexin26 gap junction mediates miRNA intercellular genetic communication in the cochlea and is required for inner ear development.

GJB6 GJB2

1.07e-052114226490746
Pubmed

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.

GJB6 GJB2

1.07e-052114215656949
Pubmed

The association between GJB2 mutation and GJB6 gene in non syndromic hearing loss school children.

GJB6 GJB2

1.07e-052114222106692
Pubmed

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.

GJB6 GJB2

1.07e-052114233096615
Pubmed

Melanoma progression exhibits a significant impact on connexin expression patterns in the epidermal tumor microenvironment.

GJB6 GJB2

1.07e-052114219844737
Pubmed

Infant hearing loss and connexin testing in a diverse population.

GJB6 GJB2

1.07e-052114218580690
Pubmed

Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.

GJB6 GJB2

1.07e-052114218758381
Pubmed

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment.

GJB6 GJB2

1.07e-052114220086291
Pubmed

Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil.

GJB6 GJB2

1.07e-052114223684175
Pubmed

Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C.

VPS13C VPS13A

1.07e-052114217196930
Pubmed

Pediatric cholesteatoma and variants in the gene encoding connexin 26.

GJB6 GJB2

1.07e-052114219877196
Pubmed

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

GJB6 GJB2

1.07e-052114212865758
Pubmed

Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss.

GJB6 GJB2

1.07e-052114218554165
Pubmed

Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss.

GJB6 GJB2

1.07e-052114224706568
Pubmed

Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8.

ABCB6 ABCC8

1.07e-052114221199866
Pubmed

Connexin 26 and 30 genes mutations in patients with chronic rhinosinusitis.

GJB6 GJB2

1.07e-052114217989577
Pubmed

Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.

GJB6 GJB2

1.07e-052114222704424
Pubmed

In vivo genetic manipulation of inner ear connexin expression by bovine adeno-associated viral vectors.

GJB6 GJB2

1.07e-052114228779115
Pubmed

Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss.

GJB6 GJB2

1.07e-052114215064611
Pubmed

The presenilin 2 loop domain interacts with the mu-calpain C-terminal region.

PSEN2 CAPN1

1.07e-05211429852298
Pubmed

Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.

GJB6 GJB2

1.07e-052114223863883
Pubmed

Etiology of unilateral hearing loss in a national hereditary deafness repository.

GJB6 GJB2

1.07e-052114222534022
Pubmed

Human connexin26 and connexin30 form functional heteromeric and heterotypic channels.

GJB6 GJB2

1.07e-052114217615163
Pubmed

Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.

GJB6 GJB2

1.07e-052114220233142
Pubmed

Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.

GJB6 GJB2

1.07e-052114216217030
Pubmed

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

GJB6 GJB2

1.07e-052114217666888
Pubmed

Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.

GJB6 GJB2

1.07e-052114216773579
Pubmed

Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo-Brazil.

GJB6 GJB2

1.07e-052114220835527
Pubmed

Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.

CRYBB1 CRYBB2

1.07e-052114221402992
Pubmed

GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?

GJB6 GJB2

1.07e-052114229106882
Pubmed

GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection.

GJB6 GJB2

1.07e-052114217426645
Pubmed

Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.

GJB6 GJB2

1.07e-052114231215297
Pubmed

GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population.

GJB6 GJB2

1.07e-052114222103400
InteractionRAMP3 interactions

LPCAT1 AGPAT5 LPCAT4 ABCB6 PTDSS2 BTN2A1 LPCAT2 PLD2

5.93e-061761118int:RAMP3
Cytoband22q13.33

ACR ZBED4 MOV10L1

1.18e-0438114322q13.33
Cytoband9q21

IARS1 VPS13A

3.31e-041111429q21
GeneFamily1-acylglycerol-3-phosphate O-acyltransferases

LPCAT1 AGPAT5 LPCAT4 LPCAT2

7.06e-081171446
GeneFamilyLow density lipoprotein receptors

LRP1 LRP5

1.15e-0313712634
GeneFamilyBeta-gamma crystallins

CRYBB1 CRYBB2

1.54e-03157121359
GeneFamilyDyneins, axonemal

DNAH1 DNAH5

1.99e-0317712536
GeneFamilyADAM metallopeptidases with thrombospondin type 1 motif

ADAMTS6 ADAMTS16

2.49e-031971250
GeneFamilyGap junction proteins

GJB6 GJB2

3.34e-0322712314
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic-thymocyte|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

DSCAML1 DNAH1 SORCS1 ADAMTS16 TENM1 NAV3 DNAH5

4.57e-0718411372cbed6462fea2622871bb7e49b0df3d984239281
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

DSCAML1 DNAH1 SORCS1 ADAMTS16 TENM1 NAV3 DNAH5

4.57e-071841137ea7a7e2bac46d4d2c31a5d576b38a032b5335062
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

DSCAML1 DNAH1 SORCS1 ADAMTS16 TENM1 NAV3 DNAH5

4.57e-0718411372b19a8c5f823e00812908b23e66bb4e563278aff
ToppCellsaliva-Severe-critical_progression_d28-40-Lymphocytic-Lymphocytic_T-mature_alpha-beta_T_cell-T_CD4_c03-ITGA4|Severe-critical_progression_d28-40 / Compartment, severity and other cell annotations on 10x 3' data (130k)

GPRASP1 MMP23B SORCS1 KLHDC1 TENM1 KYAT3

2.72e-061541136ec920cae12ea1d14b6c973f6e903f895f80e3c50
ToppCell3'-Broncho-tracheal-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)-Multiciliated_(non-nasal)_L.0.3.0.2|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

RFX3 SLIT1 CCDC28A-AS1 CFAP57 TMC5 DNAH5

4.66e-06169113614aadc2d1bf66eb47dac33b4d61ddb3c942caa4f
ToppCellPCW_05-06-Endothelial-Endothelial_mature-lymphatic|PCW_05-06 / Celltypes from embryonic and fetal-stage human lung

MRC1 NPR1 UNC5A UBTD1 PTPRB NAV3

8.06e-06186113686b218a400f9c64f92b050f00b49f09647b17437
ToppCellPCW_07-8.5-Endothelial-Endothelial_mature-lymphatic|PCW_07-8.5 / Celltypes from embryonic and fetal-stage human lung

MRC1 NPR1 ITGA2B UNC5A UBTD1 PTPRB

8.06e-0618611365d94e6dd2c92e0c46badeb1e6eb54b69af855a66
ToppCellPCW_05-06-Endothelial-Endothelial_mature-lymphatic-endo_lymphatic_(7)|PCW_05-06 / Celltypes from embryonic and fetal-stage human lung

MRC1 NPR1 UNC5A UBTD1 PTPRB NAV3

8.06e-061861136f51c76b1c3c6c49e0ebc9a913d8413e0b6a04d80
ToppCellPCW_07-8.5-Endothelial-Endothelial_mature-lymphatic-endo_lymphatic_(7)|PCW_07-8.5 / Celltypes from embryonic and fetal-stage human lung

MRC1 NPR1 ITGA2B UNC5A UBTD1 PTPRB

8.06e-0618611361da52e13096dfe4eb08bd0e7461cb3809b3b3deb
ToppCellnucseq-Endothelial-Endothelial_Vascular-Endothelial_large_blood_vessel-SVEC|nucseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

MYO1E TINAGL1 BMPR2 PTPRB UGCG NAV3

9.66e-061921136c3dda7c48732b0b8bde36de282d64192f5e9b98f
ToppCellChildren_(3_yrs)-Endothelial-capillary_endothelial_cell_(Cap1)-D139|Children_(3_yrs) / Lineage, Cell type, age group and donor

ACR WNT2B BMPR2 PTPRB ADAMTS6 NAV3

1.02e-05194113668004855b23fe1e31e8452d70effabc78a4a0bd3
ToppCellfacs-Brain_Non-Myeloid-Cortex|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TMEM229A GJB6 SREBF1 CLDN10 SLC44A1 GABBR1

1.09e-051961136256fe9bc0815f66a9afe11ba3507ef1372b52fd3
ToppCellcellseq-Epithelial-Epithelial_Airway-Basal/Suprabasal|cellseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

COL7A1 CAPN1 CLDN10 GJB2 AOPEP PLEKHA5

1.18e-051991136974f71b56f66243c78f2f297a1540e0e186df530
ToppCellmLN-Macrophage-LYVE1_Macrophage|Macrophage / Region, Cell class and subclass

MRC1 NELFCD ARMCX3 SLC44A1 LRP1 USP15

1.22e-052001136e3c15e0e1c2602b0cc9ab8cc50c978d265350c94
ToppCellParenchymal-10x3prime_v2-Endothelial-Endothelia_vascular-VE_systemic_arterial|10x3prime_v2 / Cell types per location group and 10X technology with lineage, and cell group designations

DPY19L3 CLDN10 TINAGL1 PTPRB SUV39H1 MOV10L1

1.22e-052001136a8b59e6fe04271fef61db911a286b5c48438bb84
ToppCellE16.5-samps-Epithelial-Alveolar_epithelial_precursor-Noncycling_AT2_Precursor|E16.5-samps / Age Group, Lineage, Cell class and subclass

LPCAT1 SREBF1 CLDN10 PLA2G4F DNAH5

4.73e-0515511359cad73d0b8ead289e1073d1a2e00bbeb1228308c
ToppCellAdult-Endothelial-endothelial_cell_of_vein-D122|Adult / Lineage, Cell type, age group and donor

ACR WNT2B TINAGL1 PTPRB ABCC8

5.50e-0516011350cfe130606af433b2aa90e0a20b6c44659dd6fd4
ToppCellkidney_cells-Adult_normal_reference-Mesenchymal--glomerular_mesenchymal_cell-Renin-positive_Juxtaglomerular_Granular_Cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

SLC5A7 TINAGL1 ADAMTS6 ABCC8 CTSZ

5.84e-051621135c7114e24cb5525abb9780ca3d35dbcc4eabd4b64
ToppCellkidney_cells-Adult_normal_reference-Mesenchymal--glomerular_mesenchymal_cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

SLC5A7 TINAGL1 ADAMTS6 ABCC8 CTSZ

5.84e-051621135f1851a173d3bcca2981d934161ec85d1cc0af5a2
ToppCellkidney_cells-Adult_normal_reference-Mesenchymal-|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

SLC5A7 TINAGL1 ADAMTS6 ABCC8 CTSZ

5.84e-0516211355d902bb31e691aea9749617cc88303c2448f24b8
ToppCell390C-Fibroblasts-Fibroblast-F|Fibroblasts / Donor, Lineage, Cell class and subclass (all cells)

NPR1 WNT2B CASP9 ADAMTS16 DNAH5

6.19e-0516411352957065d7f1332c5280d47be7cc342286f84be3e
ToppCellBasal_cells-SSc-ILD_01|World / lung cells shred on cell class, cell subclass, sample id

COL7A1 TINAGL1 AOPEP UGCG SNTG1

6.19e-05164113585487a303194f5244956ec1ca2d1758d38117f41
ToppCellE16.5-Epithelial-Epithelial_Alveolar-Epithelial_Alveolar-AT1/AT2-AT1/AT2_mature|E16.5 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

LPCAT1 PIGS CLDN10 TINAGL1 PLA2G4F

6.19e-051641135fe11fcce4ba7f44ba2989ea3705916b67e75f8e7
ToppCellE16.5-Epithelial-Epithelial_Alveolar-Epithelial_Alveolar-AT1/AT2|E16.5 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

LPCAT1 PIGS CLDN10 TINAGL1 PLA2G4F

6.19e-051641135b6beb8548ac0dd07e8a580a938e5ee4bf25a3c1f
ToppCell390C-Fibroblasts-Fibroblast-F-|Fibroblasts / Donor, Lineage, Cell class and subclass (all cells)

NPR1 WNT2B CASP9 ADAMTS16 DNAH5

6.19e-05164113582e57d618c6e59bca4a03d31caf35b6043dfcf52
ToppCellrenal_cortex_nuclei-CKD+DKD_normotensive-Endothelial-blood_vessel_endothelial_cell_of_kidney-arteriolar_vasa-recta_endothelial|CKD+DKD_normotensive / Celltypes from Cells and Nuclei per compartment and clinical group

NPR1 WNT2B BMPR2 PTPRB ADAMTS6

6.37e-051651135a74751e0ec857aa974bec04ccc747c004a8f6e01
ToppCellIonocyte-iono-3|World / Class top

COL7A1 CASP9 ZBED4 SUV39H1 RACGAP1

6.55e-0516611359c4a780f8af46d7552077c7a0ae0ab1b2413e5d4
ToppCellfacs-Lung-3m-Mesenchymal-fibroblast-mesothelial_cell|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

COL7A1 PCNX2 TMCO4 CHST4 SNTG1

6.74e-051671135743df5908c1ceb43b34b240d9f9649f30f4142fa
ToppCellfacs-Lung-3m-Mesenchymal-fibroblast-mesothelial_cell-mesothelial_cell|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

COL7A1 PCNX2 TMCO4 CHST4 SNTG1

6.74e-0516711351adb566f98af0109c8cc6e36033b89651e2c75e7
ToppCellAdult-Endothelial-endothelial_cell_of_artery-D231|Adult / Lineage, Cell type, age group and donor

WNT2B CLDN10 PTPRB ADAMTS6 TACR3

6.93e-051681135aca34c51758c65925ad24110294a72b2dea6db72
ToppCelldroplet-Pancreas-Exocrine-24m-Epithelial|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TMEM229A CLDN10 TINAGL1 ADAMTS16 PLD2

6.93e-051681135100ab6d36592b61f4db9f8cb90c48afac016d679
ToppCelltumor_Lymph_Node_/_Brain-T/NK_cells-CD8+/CD4+_Mixed_Th|T/NK_cells / Location, Cell class and cell subclass

MRC1 DPY19L3 ZBED4 CCDC28A-AS1 PLD2

7.96e-05173113542c911ed16fabdabef063830e8407192d8bde950
ToppCell3'-Distal_airway-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)-Multiciliated_(non-nasal)_L.0.3.3.0|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

PCDHA11 RFX3 CFAP57 TMC5 DNAH5

7.96e-051731135c3762655caa79ac4879876f470d32578a3c93b01
ToppCellfacs-Pancreas-Exocrine-18m-Epithelial|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

COL7A1 TMEM229A CASP9 CLDN10 GJB2

8.40e-0517511353f1b2e23fec953148fb0711e523c463adb07dca4
ToppCelldroplet-Pancreas-Exocrine-24m-Epithelial-pancreatic_ductal_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TMEM229A CLDN10 TINAGL1 ADAMTS16 PLD2

8.40e-0517511356bb8fc2959583644f16b22e906af91af62a3a633
ToppCelldroplet-Pancreas-Exocrine-24m-Epithelial-pancreatic_ductal_cel|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TMEM229A CLDN10 TINAGL1 ADAMTS16 PLD2

8.40e-0517511358902c38067f025b094ca9c28c449c32a66eded1c
ToppCellfacs-Marrow-KLS-18m-Lymphocytic-late_pro-B_cell|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ACR ABCB6 RFX3 TMCO4 SLIT1

8.63e-0517611353766e0533b103ec92ac75eba3df02e287efc53fa
ToppCellfacs-Marrow-KLS-18m-Lymphocytic-late_pro_B_cell|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ACR ABCB6 RFX3 TMCO4 SLIT1

8.63e-051761135aa1bada2175d8370fc71939a607407155259d195
ToppCellfacs-Pancreas-Exocrine-18m|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

COL7A1 TMEM229A CASP9 CLDN10 GJB2

9.35e-051791135bbfbfb32773346080127055b5aafa36bbf7d0942
ToppCell343B-Lymphocytic-NK_cells-NK_cell_A2|Lymphocytic / Donor, Lineage, Cell class and subclass (all cells)

SREBF1 XAB2 DNAH1 TMCO4 AOPEP

9.60e-05180113562511d76d24b836839c3dcc2bf30485ffe9401e2
ToppCellPND03-Immune-Immune_Myeloid-Monocytic-Macrophage-IM|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

MRC1 ARPC1B CRYBB1 LPCAT2 CTSZ

9.60e-051801135a600bc705993d3a010550a25d3b54358946f061f
ToppCell343B-Lymphocytic-NK_cells-NK_cell_A2|NK_cells / Donor, Lineage, Cell class and subclass (all cells)

SREBF1 XAB2 DNAH1 TMCO4 AOPEP

1.01e-04182113503992d0ae519795239e4f2cc8e63f33c4482de6a
ToppCell3'-GW_trimst-1-SmallIntestine-Endothelial-lymphatic_endothelial-LEC1_(ACKR4+)|GW_trimst-1 / Celltypes from developing, pediatric, Crohn's, & adult GI tract

MRC1 NPR1 ITGA2B TINAGL1 UBTD1

1.01e-041821135fc020d784ab81af80d9331cc322b7c259284eaef
ToppCellPND03-Immune-Immune_Myeloid-Monocytic-Macrophage-AM-AM_mature|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

MRC1 PSEN2 CAPN1 LRP1 CTSZ

1.06e-041841135fe9ea4d0e0be820e95eaf9bb42a5560d0e177574
ToppCelldroplet-Liver-HEPATOCYTES-1m-Endothelial-nan|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MRC1 ACR TINAGL1 PTPRB RALGPS1

1.09e-041851135742350093d90f96735dc73e3360cdd749bae63fd
ToppCellMyeloid-B_(Activated_Macrophage)|World / shred on cell class and cell subclass (v4)

MRC1 PSEN2 CAPN1 LRP1 CTSZ

1.12e-04186113533d731a7883d75e4e7db83b641cdb1e9a39938bf
ToppCelltumor_Lymph_Node_/_Brain-Fibroblasts-Undetermined|Fibroblasts / Location, Cell class and cell subclass

CAPN1 UBR7 UBTD1 LRP5 KYAT3

1.12e-041861135403ac98f72a42721f84fbd7826f251a88ae534a2
ToppCellPND03-Immune-Immune_Myeloid-Monocytic-Macrophage-AM|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

MRC1 PSEN2 CAPN1 LRP1 CTSZ

1.12e-0418611357950e03ea080238c168b9d807e217f459acdfb28
ToppCellrenal_papilla_nuclei-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thick_ascending_limb_epithelial_cell-Adaptive_/_Maladaptive_/_Repairing_Thick_Ascending_Limb_Cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

COL7A1 MYO1E DSCAML1 AOPEP DNAH5

1.21e-0418911358c8ca3b30d9be6c854615459a7bfba82b427c8bc
ToppCellrenal_papilla_nuclei-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thick_ascending_limb_epithelial_cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

COL7A1 MYO1E DSCAML1 AOPEP DNAH5

1.21e-0418911355d902a4660a27548764bf04c6de152b565da835c
ToppCellwk_08-11-Endothelial-Lymph_endothelial-Lymphatic_endo|wk_08-11 / Celltypes from embryonic and fetal-stage human lung

MRC1 NPR1 UNC5A UBTD1 PTPRB

1.24e-041901135279c5f68b993dc7adbf9aa69fffb1321cdebc48a
ToppCellControl-Endothelial-VE_Capillary_B|Endothelial / Disease state, Lineage and Cell class

WNT2B BMPR2 PTPRB ADAMTS6 ABCC8

1.24e-0419011357f3f419fffe02934b6f27b697f7a6401072491ed
ToppCellControl-Endothelial-VE_Venous|Endothelial / Disease state, Lineage and Cell class

BMPR2 PTPRB FAM177B ABCC8 UGCG

1.24e-0419011354e30155203b4a8c5e496fcbe9348b67b98ebc625
ToppCell367C-Lymphocytic-NK_cells-NK_cell_B1|NK_cells / Donor, Lineage, Cell class and subclass (all cells)

RRAGA VPS13A PLEKHA5 TAF6 DNASE1

1.24e-0419011352434b8ad2976eab7d9147012c28454ab29670709
ToppCell3'-Parenchyma_lung-Endothelial-Blood_vessel_EC-pulmonary_artery_endothelial_cell-EC_arterial-EC_arterial_L.2.4.1.1|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

NPR1 TINAGL1 PTPRB ADAMTS6 PLD2

1.24e-041901135d0297d678498e346e56cf95fe9e3db7d3ad3b837
ToppCellwk_08-11-Endothelial-Lymph_endothelial|wk_08-11 / Celltypes from embryonic and fetal-stage human lung

MRC1 NPR1 UNC5A UBTD1 PTPRB

1.24e-041901135d7f1dc032d161529559e01832d1a3112c6f6cc1a
ToppCellnucseq-Endothelial-Endothelial_Vascular-Endothelial_large_blood_vessel-AEC|nucseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

WNT2B CLDN10 TINAGL1 BMPR2 PTPRB

1.27e-04191113550601ef0a5a8f2c2120922989e08e85bf2d9b4ab
ToppCellCOPD-Endothelial-VE_Arterial|Endothelial / Disease state, Lineage and Cell class

MYO1E WNT2B CLDN10 BMPR2 PTPRB

1.27e-041911135ef16ad1c1cd2c0c0377957398c98775b62a81754
ToppCellrenal_cortex_nuclei|World / Celltypes from Cells and Nuclei per compartment and clinical group

DIP2B SORCS1 AOPEP PLEKHA5 LARGE1

1.30e-041921135e8cc4d08fcfceeab75a02558817e4ccd7dbafe3a
ToppCell3'-Distal_airway-Endothelial-Blood_vessel_EC-vein_endothelial_cell-EC_venous_pulmonary-EC_venous_pulmonary_L.2.2.1.0|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

NPR1 TINAGL1 BMPR2 PTPRB ABCC8

1.33e-041931135c0f0052c24b7fe9e21d2bc6c38047a8e755f87b6
ToppCell(4)_Endothelial_cells|World / Cell class and subclass of bone marrow stroma cells in homeostatis

MRC1 NPR1 TINAGL1 PTPRB UGCG

1.33e-041931135ae6ba13d4d9f2a700887cdda2790c32007b29ac8
ToppCelldroplet-Liver-HEPATOCYTES-1m-Endothelial-endothelial_cell_of_hepatic_sinusoid|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MRC1 NPR1 ACR TINAGL1 PTPRB

1.33e-0419311354a8c97ff2dffc5c06351d1cb107e21e58250aa55
ToppCellnucseq-Endothelial-Endothelial_Vascular-Endothelial_large_blood_vessel-VEC|nucseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

TINAGL1 BMPR2 PTPRB ABCC8 NAV3

1.33e-0419311359ba688b35a9ead5d04691b3f3f15484f02dbbd0d
ToppCelldroplet-Liver-HEPATOCYTES-1m-Endothelial|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MRC1 NPR1 ACR TINAGL1 PTPRB

1.33e-041931135d5f6d6e2c36d4e80af4d39cdfc0b18df295a587b
ToppCelldroplet-Tongue-TONGUE-1m-Epithelial-parabasal|Tongue / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

GJB6 CLDN10 GJB2 SLIT1 SOWAHB

1.33e-04193113555eab7d2574e9cc2ed8f08e0a7ca7cbf90fb5818
ToppCellIPF-Endothelial-VE_Venous|IPF / Disease state, Lineage and Cell class

NPR1 TINAGL1 PTPRB ABCC8 NAV3

1.33e-04193113529a655fa80feaabe846c90a28363b037e22d24ae
ToppCell3'-Distal_airway-Endothelial-Blood_vessel_EC-vein_endothelial_cell-EC_venous_pulmonary|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

NPR1 TINAGL1 BMPR2 PTPRB ABCC8

1.33e-041931135682ce63b73a7d02eef240673db67058d7507f744
ToppCellP15-Endothelial-large_vessel_endothelial_cell|P15 / developmental_time, Lineage, Cell group, Cell type, Cell type_cellcyc-phase

PSEN2 ARPC1B TINAGL1 PTPRB LPCAT2

1.33e-0419311355f9a7cd5f8eb9ac294cdb50518fedf872f3f78f5
ToppCellnucseq-Endothelial-Endothelial_Vascular-Endothelial_capillary-CAP1|nucseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

BMPR2 PTPRB ADAMTS6 ABCC8 NAV3

1.33e-041931135ad3f4fcc8e2816d696cbcde744dc16500e51ccac
ToppCellEndothelial-A-Donor_02|World / lung cells shred on cell class, cell subclass, sample id

ACR TINAGL1 PTPRB ABCC8 TACR3

1.36e-041941135abea887dd472c1a0d572e690bc8914c1b94712ad
ToppCellCOPD-Endothelial-VE_Capillary_B|COPD / Disease state, Lineage and Cell class

TINAGL1 BMPR2 PTPRB ABCC8 NAV3

1.36e-04194113518b7f901c12ca4f21f9a1eafd092aefe4d668b6d
ToppCellChildren_(3_yrs)-Endothelial-capillary_endothelial_cell_(Cap1)-D032|Children_(3_yrs) / Lineage, Cell type, age group and donor

WNT2B BMPR2 PTPRB ADAMTS6 ABCC8

1.36e-04194113540842a7160f337bfc191ee15fbda3e3d38a04c57
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

NPR1 ARPC1B TINAGL1 UBTD1 PTPRB

1.36e-04194113523f2a627226aaed468c55adc42ab22e051dfe7fe
ToppCellrenal_medulla_nuclei-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thick_ascending_limb_epithelial_cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

COL7A1 MYO1E UGCG TENM1 DNAH5

1.40e-041951135938b31dbf1674ee6fd0123bc88391ddcaf151217
ToppCellfacs-Liver-Liver_non-hepato/SCs_st-18m-Endothelial-endothelial_cell_of_hepatic_sinusoid|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MRC1 NPR1 AGPAT5 TINAGL1 PTPRB

1.40e-04195113512ba6d95e42d06b1991b011043c0e3370a7b4131
ToppCellnucseq-Endothelial-Endothelial_Vascular-Endothelial_large_blood_vessel|nucseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

WNT2B TINAGL1 BMPR2 PTPRB NAV3

1.40e-041951135023e3c97dd3696d74f002ff8da0c04d876c82aef
ToppCell3'-Distal_airway-Endothelial-Blood_vessel_EC-vein_endothelial_cell|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

NPR1 TINAGL1 BMPR2 PTPRB ABCC8

1.40e-04195113553b83e16b350100b1d5791a9c42bd98e37cbc0af
ToppCell3'-GW_trimst-1-SmallIntestine-Endothelial-blood_vessel_EC-Fetal_venous_EC|GW_trimst-1 / Celltypes from developing, pediatric, Crohn's, & adult GI tract

NPR1 ARPC1B TINAGL1 UBTD1 PTPRB

1.40e-041951135752a100297c26732e12bbbf3ab27a2bd4f5ea06d
ToppCellrenal_medulla_nuclei-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thick_ascending_limb_epithelial_cell-Adaptive_/_Maladaptive_/_Repairing_Thick_Ascending_Limb_Cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

COL7A1 MYO1E UGCG TENM1 DNAH5

1.40e-041951135d39e9e6544f49e677ebe528c6fe60b99a3630e30
ToppCelltumor_Lung-Endothelial_cells-Stalk-like_ECs|Endothelial_cells / Location, Cell class and cell subclass

ARPC1B CLDN10 BMPR2 PTPRB LPCAT2

1.40e-04195113556f88ce95495260360bf08f9c76cc36e395dc6a9
ToppCellrenal_medulla_nuclei-Renal_AKI_(acute_kidney_injury)|renal_medulla_nuclei / Celltypes from Cells and Nuclei per compartment and clinical group

COL7A1 NPR1 WNT2B SORCS1 TINAGL1

1.40e-041951135633c7668fe365f7b0f7851cdc442d5dd89c454e2
ToppCellfacs-Lung-nan-3m-Endothelial|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MRC1 NPR1 BMPR2 PTPRB LRP5

1.40e-0419511357f9b7f15006610ad591063d90e90367bd6083c7f
ToppCell343B-Endothelial_cells-Endothelial-D|343B / Donor, Lineage, Cell class and subclass (all cells)

TINAGL1 BMPR2 PTPRB ABCC8 CHST4

1.43e-04196113599953fe0a40e242f6945150345fc0a08ed95f8f9
ToppCell(01)_IL1RL1+-(1)_GFP|(01)_IL1RL1+ / shred by cell type by condition

COL7A1 GJB6 CAPN1 ARPC1B GJB2

1.43e-041961135b598b1112242534e139318012b257ed3cb09da83
ToppCelldroplet-Liver-LIVER-NPC-1m|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MRC1 NPR1 ARPC1B TINAGL1 PTPRB

1.43e-0419611350dfa2dc1ec527d40005614c00ed0e5f3a566c2e2
ToppCell343B-Endothelial_cells-Endothelial-D-|343B / Donor, Lineage, Cell class and subclass (all cells)

TINAGL1 BMPR2 PTPRB ABCC8 CHST4

1.43e-0419611355edffdc4c1ff35d9ee0e5c1bed0dc0c90b76ea00
ToppCelldroplet-Tongue-nan-3m-Epithelial-parabasal|Tongue / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

GJB6 CLDN10 GJB2 SLIT1 SOWAHB

1.43e-041961135159061fd0961b2cfb5941d403acc5b395dd0d3a0
ToppCelldroplet-Liver-LIVER-NPC|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MRC1 NPR1 ARPC1B TINAGL1 PTPRB

1.43e-041961135a3513c91afdc2d363e1c57071ae2399f9b7e6263
ToppCell5'-Adult-LargeIntestine-Endothelial-blood_vessel_EC-Mature_arterial_EC|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract

CLDN10 TINAGL1 BMPR2 PTPRB LPCAT2

1.46e-04197113561b1b10a017cbeb17f8529fcae66cba77ee2f115
ToppCell10x3'2.3-week_14-16-Endothelial-stroma-sinusoidal_EC|week_14-16 / cell types per 3 fetal stages;per 3',per 5'

MRC1 NPR1 TINAGL1 PTPRB UGCG

1.46e-041971135f1080d93acf1a4756d2f2c8cabd1fb50bc7bcd09
ToppCellfacs-Liver-Non-hepatocytes-3m-Endothelial-endothelial_cell_of_hepatic_sinusoid|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MRC1 NPR1 TINAGL1 BMPR2 PTPRB

1.46e-041971135deefb492b5f0e6014144bd465c4a6ae4206e8739
ToppCellLPS_IL1RA-Epithelial_alveolar-AT_1-Differentiating_AT2|LPS_IL1RA / Treatment groups by lineage, cell group, cell type

LPCAT1 VPS13C AOPEP C5 DNAH5

1.46e-041971135b94645d57efe8d9e032bffb8c89af1f425c6421e
ToppCellsevere-low-quality_cells|World / Cohort 1 (10x PBMC) with disease condition, cell group and cell class

RFX3 VPS13A TENM1 SMARCA2 TCF25

1.46e-04197113557ebd552f10d6278623b52a3d484d4b91ae1d028
ToppCell5'-Parenchyma_lung-Endothelial-Blood_vessel_EC-vein_endothelial_cell-EC_venous_pulmonary-EC_venous_pulmonary_L.2.2.1.0|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

NPR1 TINAGL1 BMPR2 PTPRB ABCC8

1.46e-0419711358437c33e2c4a10a1b95343431e48d5e820b1f742
ToppCellfacs-Liver-Non-hepatocytes-3m-Endothelial|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MRC1 NPR1 TINAGL1 BMPR2 PTPRB

1.46e-041971135a6aaa6faea348291023f0bc4b0f83fbc67d91da6
ToppCell5'-Parenchyma_lung-Endothelial-Blood_vessel_EC-vein_endothelial_cell|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

NPR1 TINAGL1 BMPR2 PTPRB ABCC8

1.46e-0419711350542badae77d2f606c13cfaf361319495c354351
ToppCell5'-Parenchyma_lung-Endothelial-Blood_vessel_EC-vein_endothelial_cell-EC_venous_pulmonary|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

NPR1 TINAGL1 BMPR2 PTPRB ABCC8

1.46e-041971135a6a64581699cfcb9607b288976fa3b09648725b7
ToppCell3'-Broncho-tracheal-Epithelial-Airway_epithelium|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

COL7A1 CAPN1 GJB2 AOPEP PLEKHA5

1.50e-041981135240e1aa0594ee6de530b2f97d5e392c5fcbf278b
ToppCell5'-Adult-Distal_Rectal-Endothelial-blood_vessel_EC-Mature_arterial_EC|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract

CLDN10 TINAGL1 BMPR2 PTPRB LPCAT2

1.50e-0419811358a55589b9244283e4b0b423a4a6d6202e8e0fec9
ToppCellcellseq-Epithelial-Epithelial_Airway-Basal/Suprabasal-Basal|cellseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

COL7A1 SLC5A7 GJB2 AOPEP PLEKHA5

1.50e-0419811357063d74d79f53d5c59c853a2575f9d3ef12f19ea
DiseaseKeratitis-Ichthyosis-Deafness Syndrome

GJB6 GJB2

1.43e-0521122C3665333
DiseaseSenter syndrome

GJB6 GJB2

1.43e-0521122C0265336
Diseaseautosomal recessive nonsyndromic deafness 1A (implicated_via_orthology)

GJB6 GJB2

1.43e-0521122DOID:0110475 (implicated_via_orthology)
DiseaseDFNA 3 Nonsyndromic Hearing Loss and Deafness

GJB6 GJB2

1.43e-0521122cv:CN043589
Diseaseautosomal recessive nonsyndromic deafness 1A (is_implicated_in)

GJB6 GJB2

1.43e-0521122DOID:0110475 (is_implicated_in)
DiseaseParkinson's disease 23 (implicated_via_orthology)

VPS13C VPS13A

1.43e-0521122DOID:0060896 (implicated_via_orthology)
Diseasechoreaacanthocytosis (implicated_via_orthology)

VPS13C VPS13A

1.43e-0521122DOID:0050766 (implicated_via_orthology)
Diseasevisual epilepsy (biomarker_via_orthology)

GJB6 ABCC8 TACR3 PLD2 GABBR1

2.45e-05901125DOID:11832 (biomarker_via_orthology)
DiseaseDEAFNESS, AUTOSOMAL RECESSIVE 1A

GJB6 GJB2

4.27e-0531122220290
Diseaseautosomal recessive spinocerebellar ataxia 4 (implicated_via_orthology)

VPS13C VPS13A

4.27e-0531122DOID:0111611 (implicated_via_orthology)
DiseaseDEAFNESS, X-LINKED 2

GJB6 GJB2

4.27e-0531122304400
DiseaseCohen syndrome (implicated_via_orthology)

VPS13C VPS13A

4.27e-0531122DOID:0111590 (implicated_via_orthology)
DiseaseDeafness, autosomal dominant nonsyndromic sensorineural 3

GJB6 GJB2

4.27e-0531122cv:
DiseaseProgressive hearing loss stapes fixation

GJB6 GJB2

4.27e-0531122C1844678
DiseaseDEAFNESS, DIGENIC, GJB2/GJB6 (disorder)

GJB6 GJB2

4.27e-0531122C2673760
DiseaseDEAFNESS, DIGENIC, GJB2/GJB3 (disorder)

GJB6 GJB2

4.27e-0531122C2673761
DiseaseDEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

GJB6 GJB2

4.27e-0531122C2673759
DiseaseX-linked mixed hearing loss with perilymphatic gusher

GJB6 GJB2

4.27e-0531122cv:C1844678
DiseaseAutosomal recessive nonsyndromic hearing loss 1A

GJB6 GJB2

4.27e-0531122cv:C2673759
DiseaseHidrotic Ectodermal Dysplasia

GJB6 GJB2

1.42e-0451122C0162361
DiseaseColorectal Carcinoma

COL7A1 RNPEPL1 ABCB6 DSCAML1 SIGLEC7 ABCC8 VPS13A TENM1 LRP1 VRTN

3.49e-0470211210C0009402
Diseasecerebellar ataxia (implicated_via_orthology)

VPS13C VPS13A

3.94e-0481122DOID:0050753 (implicated_via_orthology)
DiseaseCATARACT, COPPOCK-LIKE

CRYBB1 CRYBB2

5.05e-0491122C1852438
DiseaseCataract microcornea syndrome

CRYBB1 CRYBB2

5.05e-0491122C1861829
DiseaseCataract, Pulverulent

CRYBB1 CRYBB2

5.05e-0491122C1833118
Diseasefish oil supplement exposure measurement, triglyceride measurement

GJB6 GJB2

6.30e-04101122EFO_0004530, EFO_0600007
Diseasepapillary thyroid carcinoma

PCNX2 SOWAHB

9.19e-04121122EFO_0000641
Diseasesuperior frontal gyrus grey matter volume measurement

SMARCA2 SNTG1

1.26e-03141122EFO_0006516
Diseasethyroid volume

SMARCA2 DNAH5

1.65e-03161122EFO_0004865
DiseaseNuclear non-senile cataract

CRYBB1 CRYBB2

2.10e-03181122C1112705
DiseaseNuclear cataract

CRYBB1 CRYBB2

2.10e-03181122C0392557
Diseaseurate measurement

COL7A1 CAPN1 CASP9 CLDN10 DNAH1 STPG4 BMPR2 LRP1 DNASE1 LARGE1

2.19e-0389511210EFO_0004531
Diseasesynophrys measurement

TCF25 LRP5 HTT

2.23e-03681123EFO_0007906
Diseasecortical surface area change measurement, age at assessment

VRTN USP15

2.34e-03191122EFO_0008007, EFO_0021503
Diseaseunipolar depression, response to bupropion, mood disorder

ADAMTS6 NAV3

2.34e-03191122EFO_0003761, EFO_0004247, EFO_0006326
Diseasekidney disease (biomarker_via_orthology)

SREBF1 CASP9

2.86e-03211122DOID:557 (biomarker_via_orthology)
Diseaseresponse to diuretic

NELFCD CTSZ

3.43e-03231122GO_0036270

Protein segments in the cluster

PeptideGeneStartEntry
ESDGKSRWFYSPWLL

ARMT1

101

Q9H993
KGEYPRWDSWTSSRR

CRYBB2

76

P43320
PWGERGWLRIVTSTY

CTSZ

266

Q9UBR2
TATWPYLNWIASKIG

ACR

276

P10323
AYVWTLKGRTWKPTL

ARPC1B

76

O15143
LPSSWDYRWNLTLSP

CCDC28A-AS1

46

A0A096LPI5
YFLLRDLPSWSSVDW

FBXO4

101

Q9UKT5
WASALWYLSITRPTS

B3GALT1

16

Q9Y5Z6
LEKGEYPRWNTWSSS

CRYBB1

116

P53674
KAPWNSLAWTVTSYV

ABCB6

296

Q9NP58
IWYKTKPEGRSVTWT

AOPEP

246

Q8N6M6
VRIEGSLWWTYTSSI

GJB2

126

P29033
VTALYITSWLLSGTW

DPY19L3

171

Q6ZPD9
LPLANTSYPWSWARV

NPR1

41

P16066
RTIRKWNTTLYEGTW

CAPN1

361

P07384
SGWVLVSSTLPTDYW

CLDN10

16

P78369
KSIVWYPPWARIGTE

ARMCX3

71

Q9UH62
WTVDWPGRYKFSGTT

ADAMTS16

801

Q8TE57
DFTRSGKPWWLNDTS

ADAMTS6

211

Q9UKP5
GKPWWLNDTSTVSYS

ADAMTS6

216

Q9UKP5
EGRKPALSSWTRYWV

RALGPS1

446

Q5JS13
ALSSWTRYWVILSGS

RALGPS1

451

Q5JS13
SLNYWRTWKCISKPS

KCTD19

126

Q17RG1
LYTALWWSATPTEGA

PCDHA11

716

Q9Y5I1
QTKWPYIELLWTTDR

MINDY3

426

Q9H8M7
WWTPSSGKVTSYEVQ

PTPRB

131

P23467
LRYPNKLDTITWTWQ

LPCAT1

236

Q8NF37
KWRTATTPYRVEWEA

LARGE1

641

O95461
WVEAEYRIRPGTWSS

MOV10L1

156

Q9BXT6
EWLVRKFFGSLPDSW

HTATIP2

181

Q9BUP3
IRYPNSLDTTSWAWR

LPCAT4

231

Q643R3
GVLKWVDWTVSEPRY

NELFCD

426

Q8IXH7
WPWSGYLAISISVTK

MBTPS1

556

Q14703
WRKTLEPWKLYATVG

GABBR1

701

Q9UBS5
WTNWHTGTISYRSLP

LRP1

3916

Q07954
TSPPESNLVYWLWEK

CFAP57

126

Q96MR6
SGDTLYWTDWQTRSI

LRP5

246

O75197
LDPSKLSWGPYLRFW

FAM177B

56

A6PVY3
GPITLDRIRTWFWTK

PCNX2

1851

A6NKB5
KWVLDTYPWSSATLP

NAV3

2291

Q8IVL0
GWPRLKWVVTDSKYL

DIP2B

481

Q9P265
GSTWCISTLYRDPAW

PLA2G4F

396

Q68DD2
PNKLDTVTWTWQGYT

LPCAT2

251

Q7L5N7
QPYLDLWTTASDWLR

DNAH1

1021

Q9P2D7
NSYTRVPPLVWKLGW

HTT

2406

P42858
LQSFYPWEWGEKRIS

ERVK-7

196

P61567
TAIVLEYRPKGTWAW

DSCAML1

1511

Q8TD84
SYVRPSQWSSIRLWT

DNASE1

196

P24855
VRIEGSLWWTYTSSI

GJB6

126

O95452
FVSWRDPKSGSWYVE

CASP9

351

P55211
SKPEIRSYFPESWLW

C5

761

P01031
KTPYSLKRWRPSTWV

BMPR2

976

Q13873
SALWDPTISWRTGRY

UGCG

366

Q16739
ISRGWYPKPLTVWRD

BTN2A1

166

Q7KYR7
YLNLDTWTWSGRITI

KLHDC1

226

Q8N7A1
TGVLWWLYAKQRRSP

SLC44A1

256

Q8WWI5
WTPVSRASSYILSWR

COL7A1

976

Q02388
ALVPSVWLYWRGASS

C3orf56

96

Q8N813
KPVYGKRWSSSDWTL

KYAT3

181

Q6YP21
DWTDGIFSTLWRKTL

DNAH5

2311

Q8TE73
EWSDGTPVTFTKWLR

MRC1

436

P22897
GLPLWWKTTETYRAS

PIGS

31

Q96S52
RKYTKPEAIIGSWLW

GPRASP1

711

Q5JY77
SATGPKSVWYRIAFW

HRH4

331

Q9H3N8
KPWLGTVDSSEVYSW

SLC5A7

226

Q9GZV3
KSWVDEKTPWTTRYG

TAF6

361

P49848
SWLDKSTPYTAVRWV

RER1

31

O15258
ILRYTSTDAPAIWWL

RNPEPL1

166

Q9HAU8
SLFKWPNVSDIWSTY

XAB2

546

Q9HCS7
RTLKYWTAANSWGPA

TINAGL1

416

Q9GZM7
PLSTLSNWTYEFDKW

SMARCA2

781

P51531
WLASGKYRTFSAPWA

TMCO4

286

Q5TGY1
SRGWGTWKRVPIYVI

TMEM229A

301

B2RXF0
PTRYSWKKGVWLTDL

MMP23B

191

O75900
IEKLWQTFWRYSPST

RFX3

376

P48380
YKFLAPPVTTWDWTR

SNTG1

316

Q9NSN8
WTTTPRSNWEIYRKP

PIRT

41

P0C851
WRLKGSLSRGDWYKT

NDUFV1

51

P49821
TPYSWVRFEWKPASS

PTDSS2

296

Q9BVG9
LSWTWRSLTLYPSQP

SIGLEC7

286

Q9Y286
IISRTWADGKIWSYT

TENM1

1871

Q9UKZ4
WRSDTPLIYKAVPSW

IARS1

401

P41252
TTEYVVGAPTWSWTL

ITGA2B

281

P08514
PSWRIALWSLAYGVV

TACR3

81

P29371
YWTRSRRKTGTLQPW

RACGAP1

241

Q9H0H5
KPWQYLTSNTSGEIW

SOWAHB

706

A6NEL2
PLPSDWWESYLKRTI

POM121L2

91

Q96KW2
LVKWRGYPDSESTWE

SUV39H1

61

O43463
DWSVLSTPWESLYSL

SREBF1

776

P36956
YWLAKWTDSALTLTP

ABCC8

1031

Q09428
PLPWTWVRSYEFTSN

CCL26

41

Q9Y258
SLTAFYPRAVISWWS

CLN3

171

Q13286
SQAWRWSLPYEKVSR

CHST4

331

Q8NCG5
IWTKRDIRPDFGSWT

PGBD2

111

Q6P3X8
EIKEAVSSLPSYWSW

TMEM95

76

Q3KNT9
VSSLPSYWSWLRKTK

TMEM95

81

Q3KNT9
FYTWADPVGSRRLKW

VPS13A

2446

Q96RL7
TWKTYNPAFSRLEIW

TMEM181

301

Q9P2C4
WWRIALTDTPIPGTY

STPG4

41

Q8N801
RTSIWDETLYKAWSS

RRAGA

161

Q7L523
LLPTEGWNKLVSWYT

USP15

91

Q9Y4E8
YLPEWSAWVILGAIS

PSEN2

246

P49810
WADPTGTRKLTWTYA

VPS13C

3011

Q709C8
PSWQRWFFSGKLLTD

UBTD1

186

Q9HAC8
AVIVYVDGSWSPWSK

UNC5A

236

Q6ZN44
TATYWPLNWRSKLCT

UBR7

301

Q8N806
WIDTLSTRPGYLWVV

TMC5

881

Q6UXY8
PTYVLAWGVWRLLSA

AGPAT5

26

Q9NUQ2
LRYPSLSPSAFWVWK

VRTN

531

Q9H8Y1
LSPSAFWVWKSLARG

VRTN

536

Q9H8Y1
NLEWISLPRSWTYGI

PLEKHA5

6

Q9HAU0
AVLWPSQVGTLTYVW

SORCS1

911

Q8WY21
WLSSWVKTGYKEPGI

SLIT1

876

O75093
RAGIWTKTHTIWYKP

TRIP12

1386

Q14669
ITDWWLSPEVYLKRP

PLD2

361

O14939
CTWLTTPKSTWPRYS

TCF25

216

Q9BQ70
TLPARVDTSWWYIGA

WNT2B

51

Q93097
LTYWNLKKASWPGLS

ZBED4

1101

O75132
YAILTKATWPSWQGE

MYO1E

636

Q12965