TMEM185A

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cytidine catabolic process (GO:0006216)6.36582587
2cytidine deamination (GO:0009972)6.36582587
3cytidine metabolic process (GO:0046087)6.36582587
4protein neddylation (GO:0045116)6.20085232
5DNA deamination (GO:0045006)5.89482291
6thrombin receptor signaling pathway (GO:0070493)5.73843886
7pyrimidine ribonucleoside catabolic process (GO:0046133)5.53039036
8regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450915.19297929
9pyrimidine nucleoside catabolic process (GO:0046135)4.58467502
10autophagic vacuole fusion (GO:0000046)4.44904768
11Arp2/3 complex-mediated actin nucleation (GO:0034314)4.34052116
12polyamine biosynthetic process (GO:0006596)4.19060657
13lipoxygenase pathway (GO:0019372)4.11242681
14negative regulation of norepinephrine secretion (GO:0010700)4.08711626
15positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.04281249
16regulation of platelet aggregation (GO:0090330)4.00106996
17regulation of integrin-mediated signaling pathway (GO:2001044)3.88084853
18negative regulation of T cell apoptotic process (GO:0070233)3.85669888
19negative regulation of calcium ion transport into cytosol (GO:0010523)3.78951614
20negative regulation of homotypic cell-cell adhesion (GO:0034111)3.78828109
21negative regulation of thymocyte apoptotic process (GO:0070244)3.77276870
22adenosine receptor signaling pathway (GO:0001973)3.65484272
23platelet aggregation (GO:0070527)3.64272991
24regulation of platelet activation (GO:0010543)3.61993554
25neutrophil activation involved in immune response (GO:0002283)3.61527609
26negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.59179673
27actin nucleation (GO:0045010)3.52790100
28positive regulation of monocyte chemotaxis (GO:0090026)3.50822091
29negative regulation of platelet activation (GO:0010544)3.49737233
30positive regulation of endothelial cell differentiation (GO:0045603)3.46361604
31triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.38073575
32extracellular fibril organization (GO:0043206)3.34997981
33regulation of homotypic cell-cell adhesion (GO:0034110)3.33381540
34negative regulation of appetite (GO:0032099)3.30080853
35negative regulation of response to food (GO:0032096)3.30080853
36negative regulation of heart rate (GO:0010459)3.27006538
37fatty acid elongation (GO:0030497)3.25993250
38cellular response to interferon-beta (GO:0035458)3.24477106
39negative regulation of macrophage derived foam cell differentiation (GO:0010745)3.23614551
40negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.21654021
41neutrophil activation (GO:0042119)3.19002624
42angiogenesis involved in wound healing (GO:0060055)3.18986410
43positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)3.17149425
44calcium-mediated signaling using intracellular calcium source (GO:0035584)3.15074459
45pyrimidine-containing compound catabolic process (GO:0072529)3.12911033
46polyamine metabolic process (GO:0006595)3.07899627
47protein maturation by protein folding (GO:0022417)3.06786915
48regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)3.05360864
49positive regulation of mitochondrial fission (GO:0090141)3.04277127
50platelet dense granule organization (GO:0060155)3.03472064
51organelle membrane fusion (GO:0090174)3.02764154
52beta-amyloid metabolic process (GO:0050435)3.01827140
53cyclooxygenase pathway (GO:0019371)2.97334237
54granulocyte activation (GO:0036230)2.95310979
55negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.93400479
56fusion of sperm to egg plasma membrane (GO:0007342)2.87776557
57positive regulation of interleukin-8 secretion (GO:2000484)2.87575979
58sequestering of actin monomers (GO:0042989)2.87115321
59amyloid precursor protein catabolic process (GO:0042987)2.86972601
60amyloid precursor protein metabolic process (GO:0042982)2.86711235
61negative regulation of calcium ion transmembrane transport (GO:1903170)2.85467270
62negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.85467270
63response to interferon-beta (GO:0035456)2.82000487
64regulation of receptor recycling (GO:0001919)2.81535391
65regulation of mitochondrial depolarization (GO:0051900)2.80207935
66positive regulation of Rho protein signal transduction (GO:0035025)2.76958562
67negative regulation of catecholamine secretion (GO:0033604)2.76403642
68platelet degranulation (GO:0002576)2.75870802
69negative regulation by host of viral transcription (GO:0043922)2.72638134
70metallo-sulfur cluster assembly (GO:0031163)2.71366985
71iron-sulfur cluster assembly (GO:0016226)2.71366985
72positive regulation of catecholamine secretion (GO:0033605)2.71006954
73blood coagulation, intrinsic pathway (GO:0007597)2.69839300
74negative regulation of stress fiber assembly (GO:0051497)2.69017852
75deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.68342430
76regulation of cardioblast differentiation (GO:0051890)2.62463999
77protein insertion into membrane (GO:0051205)2.60762636
78purinergic nucleotide receptor signaling pathway (GO:0035590)2.60499198
79positive regulation of natural killer cell mediated immunity (GO:0002717)2.60177411
80regulation of corticosteroid hormone secretion (GO:2000846)2.60023358
81fibril organization (GO:0097435)2.55466094
82platelet activation (GO:0030168)2.53982689
83regulation of norepinephrine secretion (GO:0014061)2.53887792
84regulation of Golgi to plasma membrane protein transport (GO:0042996)2.52459063
85negative regulation of neural precursor cell proliferation (GO:2000178)2.51919408
86leukocyte migration involved in inflammatory response (GO:0002523)2.51218056
87positive regulation of defense response to virus by host (GO:0002230)2.49932779
88homotypic cell-cell adhesion (GO:0034109)2.49172691
89cellular biogenic amine biosynthetic process (GO:0042401)2.48916351
90negative regulation of lymphocyte apoptotic process (GO:0070229)2.48790800
91mitochondrial calcium ion homeostasis (GO:0051560)2.48127299
92regulation of mononuclear cell migration (GO:0071675)2.47334567
93galactose metabolic process (GO:0006012)2.46282151
94prostanoid biosynthetic process (GO:0046457)2.46143087
95prostaglandin biosynthetic process (GO:0001516)2.46143087
96positive regulation of protein homodimerization activity (GO:0090073)2.45631000
97negative regulation of cation channel activity (GO:2001258)2.43108914
98positive regulation of DNA recombination (GO:0045911)2.42192151
99regulation of chemokine-mediated signaling pathway (GO:0070099)2.41271082
100positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)2.40717287

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human5.81482791
2LYL1_20887958_ChIP-Seq_HPC-7_Mouse3.97836881
3STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse3.25495961
4SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human3.23181300
5CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.22025144
6RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.15992103
7NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.12237288
8TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.01724812
9SRY_22984422_ChIP-ChIP_TESTIS_Rat2.99531836
10LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.62868647
11IRF8_21731497_ChIP-ChIP_J774_Mouse2.47227268
12MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.45361386
13MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.44906932
14GATA1_19941827_ChIP-Seq_MEL_Mouse2.10718172
15GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.89347290
16E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.77155068
17GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.77035761
18SCL_19346495_ChIP-Seq_HPC-7_Human1.75088972
19IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.73950483
20FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.68430712
21FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.66048850
22GATA2_21666600_ChIP-Seq_HMVEC_Human1.64116009
23EZH2_22144423_ChIP-Seq_EOC_Human1.63568280
24IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.62575522
25SPI1_23127762_ChIP-Seq_K562_Human1.59821706
26CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.59795536
27HTT_18923047_ChIP-ChIP_STHdh_Human1.57213334
28STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.50189760
29BCL6_27268052_Chip-Seq_Bcells_Human1.49859011
30GATA1_22383799_ChIP-Seq_G1ME_Mouse1.49472833
31YY1_22570637_ChIP-Seq_MALME-3M_Human1.42769776
32TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.40831839
33STAT4_19710469_ChIP-ChIP_TH1__Mouse1.38064031
34ELK4_26923725_Chip-Seq_MESODERM_Mouse1.34012026
35RUNX1_22412390_ChIP-Seq_EML_Mouse1.33597268
36CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.32822326
37ELF1_20517297_ChIP-Seq_JURKAT_Human1.32722350
38Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.28921640
39GATA1_19941826_ChIP-Seq_K562_Human1.28812303
40THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.22799054
41PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.21302527
42ELF1_17652178_ChIP-ChIP_JURKAT_Human1.20721810
43BCOR_27268052_Chip-Seq_Bcells_Human1.19693417
44ZNF263_19887448_ChIP-Seq_K562_Human1.19547059
45MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.19240960
46IKZF1_21737484_ChIP-ChIP_HCT116_Human1.18686798
47ELK3_25401928_ChIP-Seq_HUVEC_Human1.16680460
48CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.15506430
49GBX2_23144817_ChIP-Seq_PC3_Human1.15151788
50FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13663583
51THAP11_20581084_ChIP-Seq_MESCs_Mouse1.13530611
52SPI1_20517297_ChIP-Seq_HL60_Human1.09160357
53TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.09009473
54PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.08612458
55SRF_21415370_ChIP-Seq_HL-1_Mouse1.06910788
56RARG_19884340_ChIP-ChIP_MEFs_Mouse1.06540806
57IRF8_27001747_Chip-Seq_BMDM_Mouse1.04875935
58TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.03516333
59NANOG_20526341_ChIP-Seq_ESCs_Human1.03291280
60MYB_21317192_ChIP-Seq_ERMYB_Mouse1.03285757
61PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.03101656
62ESR1_20079471_ChIP-ChIP_T-47D_Human1.00973254
63KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.96610878
64KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.96610878
65KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.96610878
66RUNX_20019798_ChIP-Seq_JUKART_Human0.96279165
67ZNF274_21170338_ChIP-Seq_K562_Hela0.95307752
68HOXB4_20404135_ChIP-ChIP_EML_Mouse0.94634781
69CTCF_27219007_Chip-Seq_ERYTHROID_Human0.94168932
70CTCF_20526341_ChIP-Seq_ESCs_Human0.93493803
71TP53_22573176_ChIP-Seq_HFKS_Human0.92761967
72AR_20517297_ChIP-Seq_VCAP_Human0.91965171
73GATA2_22383799_ChIP-Seq_G1ME_Mouse0.91896821
74GATA1_19941827_ChIP-Seq_MEL86_Mouse0.89393545
75SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.88801975
76EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.88143236
77VDR_22108803_ChIP-Seq_LS180_Human0.86504401
78PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.86327944
79GATA2_19941826_ChIP-Seq_K562_Human0.85252725
80SOX2_21211035_ChIP-Seq_LN229_Human0.84172518
81CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.83925874
82EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.83324066
83WT1_19549856_ChIP-ChIP_CCG9911_Human0.83092466
84GATA3_21878914_ChIP-Seq_MCF-7_Human0.82985345
85UTX_26944678_Chip-Seq_JUKART_Human0.81831868
86SOX2_22085726_ChIP-Seq_NPCs_Mouse0.80562946
87TET1_21490601_ChIP-Seq_MESCs_Mouse0.79665477
88CTCF_21964334_Chip-Seq_Bcells_Human0.78768423
89TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.78534898
90CDX2_19796622_ChIP-Seq_MESCs_Mouse0.78256244
91PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.77423245
92ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.77321874
93GATA3_27048872_Chip-Seq_THYMUS_Human0.76954345
94RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76675598
95E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.76413035
96IRF8_22096565_ChIP-ChIP_GC-B_Human0.75982976
97CTCF_18555785_ChIP-Seq_MESCs_Mouse0.75634548
98SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.75627499
99TET1_21451524_ChIP-Seq_MESCs_Mouse0.75496439
100OCT4_20526341_ChIP-Seq_ESCs_Human0.75210908

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005464_abnormal_platelet_physiology6.80051348
2MP0008004_abnormal_stomach_pH5.06973320
3MP0000465_gastrointestinal_hemorrhage3.39349215
4MP0004084_abnormal_cardiac_muscle2.92926227
5MP0005058_abnormal_lysosome_morphology2.86873579
6MP0002736_abnormal_nociception_after2.66174974
7MP0008260_abnormal_autophagy2.41250156
8MP0000372_irregular_coat_pigmentation2.39797602
9MP0004036_abnormal_muscle_relaxation2.36534759
10MP0003183_abnormal_peptide_metabolism2.32184819
11MP0003724_increased_susceptibility_to2.29624212
12MP0000343_altered_response_to2.29274951
13MP0002822_catalepsy2.27253369
14MP0000015_abnormal_ear_pigmentation2.25292056
15MP0008775_abnormal_heart_ventricle2.18059926
16MP0004510_myositis2.15024427
17MP0003136_yellow_coat_color1.90170936
18MP0005671_abnormal_response_to1.87844979
19MP0003566_abnormal_cell_adhesion1.85445075
20MP0002148_abnormal_hypersensitivity_rea1.83548039
21MP0009278_abnormal_bone_marrow1.77115440
22MP0003279_aneurysm1.74576466
23MP0001968_abnormal_touch/_nociception1.71629431
24MP0001835_abnormal_antigen_presentation1.59834686
25MP0004215_abnormal_myocardial_fiber1.57036985
26MP0005670_abnormal_white_adipose1.53413792
27MP0005410_abnormal_fertilization1.51124781
28MP0009333_abnormal_splenocyte_physiolog1.50122386
29MP0005165_increased_susceptibility_to1.45711830
30MP0006054_spinal_hemorrhage1.45032445
31MP0002837_dystrophic_cardiac_calcinosis1.42895560
32MP0004381_abnormal_hair_follicle1.36915951
33MP0009840_abnormal_foam_cell1.34788713
34MP0002102_abnormal_ear_morphology1.32730742
35MP0000230_abnormal_systemic_arterial1.32407610
36MP0002972_abnormal_cardiac_muscle1.26729744
37MP0004272_abnormal_basement_membrane1.25469456
38MP0005171_absent_coat_pigmentation1.19977593
39MP0006276_abnormal_autonomic_nervous1.19925715
40MP0002877_abnormal_melanocyte_morpholog1.18557195
41MP0002127_abnormal_cardiovascular_syste1.15583136
42MP0001879_abnormal_lymphatic_vessel1.13827722
43MP0003191_abnormal_cellular_cholesterol1.12830113
44MP0006035_abnormal_mitochondrial_morpho1.08212560
45MP0005000_abnormal_immune_tolerance1.05780661
46MP0001853_heart_inflammation1.00972659
47MP0009763_increased_sensitivity_to0.99628658
48MP0009384_cardiac_valve_regurgitation0.99254361
49MP0002653_abnormal_ependyma_morphology0.98815686
50MP0000358_abnormal_cell_content/0.97474123
51MP0002095_abnormal_skin_pigmentation0.95609990
52MP0005385_cardiovascular_system_phenoty0.95180988
53MP0001544_abnormal_cardiovascular_syste0.95180988
54MP0008874_decreased_physiological_sensi0.93746859
55MP0001851_eye_inflammation0.91580447
56MP0003638_abnormal_response/metabolism_0.91334442
57MP0006036_abnormal_mitochondrial_physio0.90075022
58MP0005167_abnormal_blood-brain_barrier0.89353081
59MP0004947_skin_inflammation0.88811158
60MP0002723_abnormal_immune_serum0.88792504
61MP0006138_congestive_heart_failure0.88102510
62MP0003436_decreased_susceptibility_to0.87413439
63MP0000249_abnormal_blood_vessel0.85888595
64MP0002998_abnormal_bone_remodeling0.85790591
65MP0005620_abnormal_muscle_contractility0.85429384
66MP0004130_abnormal_muscle_cell0.83929515
67MP0003806_abnormal_nucleotide_metabolis0.83064093
68MP0005501_abnormal_skin_physiology0.82694834
69MP0005499_abnormal_olfactory_system0.81846342
70MP0005394_taste/olfaction_phenotype0.81846342
71MP0000689_abnormal_spleen_morphology0.81056144
72MP0002420_abnormal_adaptive_immunity0.80471585
73MP0001664_abnormal_digestion0.78866845
74MP0009764_decreased_sensitivity_to0.78311067
75MP0001905_abnormal_dopamine_level0.77800734
76MP0005084_abnormal_gallbladder_morpholo0.77618033
77MP0001819_abnormal_immune_cell0.75687311
78MP0002398_abnormal_bone_marrow0.75058320
79MP0005646_abnormal_pituitary_gland0.74897106
80MP0004142_abnormal_muscle_tone0.73616051
81MP0002452_abnormal_antigen_presenting0.73103146
82MP0003718_maternal_effect0.72347408
83MP0005390_skeleton_phenotype0.72324178
84MP0005387_immune_system_phenotype0.71988117
85MP0001790_abnormal_immune_system0.71988117
86MP0000858_altered_metastatic_potential0.71756171
87MP0003329_amyloid_beta_deposits0.70800760
88MP0001533_abnormal_skeleton_physiology0.69824306
89MP0005508_abnormal_skeleton_morphology0.69697433
90MP0003186_abnormal_redox_activity0.68552855
91MP0005075_abnormal_melanosome_morpholog0.65821017
92MP0002128_abnormal_blood_circulation0.65732618
93MP0005023_abnormal_wound_healing0.64021873
94MP0002722_abnormal_immune_system0.62516895
95MP0003795_abnormal_bone_structure0.62452216
96MP0004484_altered_response_of0.62384109
97MP0008789_abnormal_olfactory_epithelium0.62070455
98MP0004085_abnormal_heartbeat0.61888584
99MP0002429_abnormal_blood_cell0.61485325
100MP0005397_hematopoietic_system_phenotyp0.60421546

Predicted human phenotypes

RankGene SetZ-score
1Petechiae (HP:0000967)7.40370532
2Increased mean platelet volume (HP:0011877)7.35880280
3Purpura (HP:0000979)7.22118528
4Prolonged bleeding time (HP:0003010)7.08839528
5Abnormal platelet volume (HP:0011876)6.85734860
6Menorrhagia (HP:0000132)6.59926113
7Epistaxis (HP:0000421)4.85809070
8Hyperlipoproteinemia (HP:0010980)4.33607500
9Cutaneous melanoma (HP:0012056)3.89406466
10Prolonged neonatal jaundice (HP:0006579)3.77684515
11Gingival bleeding (HP:0000225)3.72117373
12Elevated erythrocyte sedimentation rate (HP:0003565)3.66697139
13Impaired platelet aggregation (HP:0003540)3.19578290
14Abnormal platelet function (HP:0011869)3.19578290
15Hepatosplenomegaly (HP:0001433)3.17363838
16Increased IgM level (HP:0003496)3.13259765
17Spontaneous hematomas (HP:0007420)2.80159978
18T lymphocytopenia (HP:0005403)2.76438797
19Panhypogammaglobulinemia (HP:0003139)2.71499600
20Dysostosis multiplex (HP:0000943)2.71481135
21Polyphagia (HP:0002591)2.64379428
22Decreased central vision (HP:0007663)2.59134004
23J-shaped sella turcica (HP:0002680)2.56537250
24Amyotrophic lateral sclerosis (HP:0007354)2.55084469
25Encephalitis (HP:0002383)2.53225622
26Agammaglobulinemia (HP:0004432)2.51758779
27Tongue fasciculations (HP:0001308)2.50189184
28IgG deficiency (HP:0004315)2.42351548
29Bruising susceptibility (HP:0000978)2.41404726
30Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.38828198
31Conjunctival telangiectasia (HP:0000524)2.36643838
32Tetraplegia (HP:0002445)2.35592161
33Abnormality of macrophages (HP:0004311)2.32638335
34Hand muscle atrophy (HP:0009130)2.32600542
35Dyschromatopsia (HP:0007641)2.31103892
36Stomatitis (HP:0010280)2.28729162
37Hypoplasia of the fovea (HP:0007750)2.27313358
38Aplasia/Hypoplasia of the fovea (HP:0008060)2.27313358
39Muscle fibrillation (HP:0010546)2.25713589
40Abnormality of lateral ventricle (HP:0030047)2.25546212
41Abnormality of T cell number (HP:0011839)2.24320596
42Aplasia/Hypoplasia of the macula (HP:0008059)2.20229696
43Joint swelling (HP:0001386)2.17588815
44Anterior segment dysgenesis (HP:0007700)2.16641075
45Abnormality of glycolipid metabolism (HP:0010969)2.12727617
46Abnormality of liposaccharide metabolism (HP:0010968)2.12727617
47Abnormality of glycosphingolipid metabolism (HP:0004343)2.12727617
48Nausea (HP:0002018)2.09513947
49Abnormality of the vasculature of the conjunctiva (HP:0008054)2.04185997
50Aplasia/Hypoplasia affecting the retina (HP:0008061)2.02353467
51Abnormality of the fovea (HP:0000493)1.98940628
52Male infertility (HP:0003251)1.96397654
53Failure to thrive in infancy (HP:0001531)1.95753254
54Follicular hyperkeratosis (HP:0007502)1.94481900
55Distal upper limb amyotrophy (HP:0007149)1.93442064
56Upper limb amyotrophy (HP:0009129)1.93442064
57Congenital malformation of the right heart (HP:0011723)1.93420424
58Double outlet right ventricle (HP:0001719)1.93420424
59Basal ganglia calcification (HP:0002135)1.92385919
60Atrophy/Degeneration involving motor neurons (HP:0007373)1.92056059
61Progressive microcephaly (HP:0000253)1.91243963
62Hemorrhage of the eye (HP:0011885)1.90216520
63Decreased activity of mitochondrial respiratory chain (HP:0008972)1.90050059
64Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.90050059
65Bundle branch block (HP:0011710)1.89614675
66Central scotoma (HP:0000603)1.88019311
67Leukocytosis (HP:0001974)1.87008078
68Abnormal pupillary function (HP:0007686)1.85843447
69Eosinophilia (HP:0001880)1.84351096
70Acute hepatic failure (HP:0006554)1.83981950
71Abnormality of eosinophils (HP:0001879)1.81872596
72Hypoplasia of the iris (HP:0007676)1.81872049
73Microretrognathia (HP:0000308)1.81249449
74Split foot (HP:0001839)1.80869782
75Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.80138816
76Entropion (HP:0000621)1.78970603
77Pigmentary retinal degeneration (HP:0001146)1.76521277
783-Methylglutaconic aciduria (HP:0003535)1.76100470
79Abnormality of the anterior chamber (HP:0000593)1.75636797
80Episodic fever (HP:0001954)1.75012084
81Retinal dysplasia (HP:0007973)1.74344900
82Albinism (HP:0001022)1.74100054
83Abnormality of T cells (HP:0002843)1.73549914
84Hypoproteinemia (HP:0003075)1.72721155
85Cerebral palsy (HP:0100021)1.71544636
86Periauricular skin pits (HP:0100277)1.69022942
87Preauricular pit (HP:0004467)1.69022942
88Abnormality of iron homeostasis (HP:0011031)1.68993781
89Progressive visual loss (HP:0000529)1.68846608
90Increased serum ferritin (HP:0003281)1.68613616
91Intellectual disability, profound (HP:0002187)1.68387266
92Chronic mucocutaneous candidiasis (HP:0002728)1.67978926
93Recurrent cutaneous fungal infections (HP:0011370)1.67978926
94Morphological abnormality of the pyramidal tract (HP:0002062)1.66067031
95Upper limb muscle weakness (HP:0003484)1.65970092
96Increased intramyocellular lipid droplets (HP:0012240)1.64713578
97Abolished electroretinogram (ERG) (HP:0000550)1.64491587
98Abnormality of alanine metabolism (HP:0010916)1.62939064
99Hyperalaninemia (HP:0003348)1.62939064
100Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.62939064

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA33.71422023
2TXK3.36402691
3MST43.00127222
4TESK22.75691268
5TAOK32.54298073
6MYLK2.47658180
7PINK12.38156801
8TESK12.26479924
9EPHB12.20023725
10PTK2B2.15800345
11BMX2.15373506
12NUAK12.14580073
13KDR2.11368853
14ARAF1.98538291
15MAP3K111.97773273
16TRIM281.65525985
17MAP3K31.60617262
18MAPKAPK31.58575003
19FES1.58396361
20IRAK11.55342639
21BCKDK1.53767578
22DAPK21.53261892
23PIM21.52587885
24LMTK21.51550883
25DYRK21.49376725
26PIK3CG1.44537370
27MAP3K121.43822309
28GRK51.37950586
29ADRBK21.36753351
30ILK1.35718964
31CSNK1G31.32143029
32IRAK41.31700880
33MAP2K31.27328493
34LIMK11.26504890
35FER1.19736374
36MAP3K51.09598179
37PRKD31.07515151
38TAOK21.06111366
39MAP4K11.03283675
40DAPK11.00344250
41PAK10.97906343
42CSF1R0.95507191
43ERN10.90352726
44MAPK130.90074044
45PRKD10.89067219
46SYK0.88355476
47ZAP700.87588215
48CSNK1G20.86127393
49GRK60.85607503
50MAP2K70.85454962
51BCR0.85145068
52TNK20.84548814
53MAP3K60.83825853
54SIK30.83022582
55PKN10.82874063
56BTK0.82499430
57CSNK1A1L0.79266895
58RET0.79205308
59DYRK30.77238545
60FLT30.75312160
61CSNK1G10.75289281
62ADRBK10.74056656
63DYRK1B0.73313681
64RIPK40.72823164
65MAPK120.72580679
66PKN20.70259795
67CAMK2G0.69236099
68FGR0.67370449
69EIF2AK10.66506405
70OBSCN0.66352883
71EPHB20.66243335
72PRKCQ0.64363406
73CSK0.62843544
74GRK70.62137045
75DAPK30.61487172
76IKBKB0.61342235
77PRKCI0.60200155
78MAP3K10.60043882
79MATK0.58855549
80TEC0.56466382
81PRKCE0.55477278
82BLK0.52601957
83MAP4K20.52100874
84HCK0.50709524
85AURKA0.49676032
86PRKD20.48901789
87PHKG20.48604404
88PHKG10.48604404
89MARK30.47378569
90FGFR40.47305893
91MINK10.46770349
92ITK0.44976094
93VRK20.44132736
94CAMK2A0.43434452
95AKT20.42273096
96CAMK2D0.41875834
97RPS6KA40.39764811
98MET0.39688306
99BRAF0.38350527
100TYRO30.37805810

Predicted pathways (KEGG)

RankGene SetZ-score
1Platelet activation_Homo sapiens_hsa046113.63713606
2Pathogenic Escherichia coli infection_Homo sapiens_hsa051303.37534628
3Primary immunodeficiency_Homo sapiens_hsa053403.14085051
4SNARE interactions in vesicular transport_Homo sapiens_hsa041302.45893557
5Collecting duct acid secretion_Homo sapiens_hsa049662.44971081
6Regulation of autophagy_Homo sapiens_hsa041402.38105545
7Glycosaminoglycan degradation_Homo sapiens_hsa005312.19607038
8Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.15211194
9Antigen processing and presentation_Homo sapiens_hsa046122.13366780
10Arachidonic acid metabolism_Homo sapiens_hsa005901.95228042
11Shigellosis_Homo sapiens_hsa051311.93698999
12Fatty acid elongation_Homo sapiens_hsa000621.88952423
13Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.75413588
14ECM-receptor interaction_Homo sapiens_hsa045121.74085807
15Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.69627577
16Hematopoietic cell lineage_Homo sapiens_hsa046401.68891306
17Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.64973008
18Sulfur relay system_Homo sapiens_hsa041221.63650490
19Endocytosis_Homo sapiens_hsa041441.55097325
20Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.52048418
21Glutathione metabolism_Homo sapiens_hsa004801.51447345
22Cyanoamino acid metabolism_Homo sapiens_hsa004601.47039561
232-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.45478662
24Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.43923843
25Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.41348320
26Proteasome_Homo sapiens_hsa030501.40789248
27Galactose metabolism_Homo sapiens_hsa000521.36212289
28Vibrio cholerae infection_Homo sapiens_hsa051101.34207542
29Lysosome_Homo sapiens_hsa041421.27823270
30Phototransduction_Homo sapiens_hsa047441.26563775
31Salmonella infection_Homo sapiens_hsa051321.24487998
32Nitrogen metabolism_Homo sapiens_hsa009101.24408815
33Steroid biosynthesis_Homo sapiens_hsa001001.23192874
34Rheumatoid arthritis_Homo sapiens_hsa053231.23168262
35Chemokine signaling pathway_Homo sapiens_hsa040621.20207059
36Regulation of actin cytoskeleton_Homo sapiens_hsa048101.18348120
37Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.17946179
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.16219851
39Synaptic vesicle cycle_Homo sapiens_hsa047211.10628019
40Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.09330285
41alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.07234269
42Dilated cardiomyopathy_Homo sapiens_hsa054141.06697195
43Phagosome_Homo sapiens_hsa041451.01771942
44Gap junction_Homo sapiens_hsa045401.00449164
45Sphingolipid metabolism_Homo sapiens_hsa006000.95279437
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.95173593
47Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.94798734
48Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.94482955
49Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.86407350
50Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.85744397
51Sulfur metabolism_Homo sapiens_hsa009200.85006624
52Glycerolipid metabolism_Homo sapiens_hsa005610.82384370
53GABAergic synapse_Homo sapiens_hsa047270.79137492
54Serotonergic synapse_Homo sapiens_hsa047260.75066427
55Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74729941
56Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.74381149
57Apoptosis_Homo sapiens_hsa042100.73357668
58Toll-like receptor signaling pathway_Homo sapiens_hsa046200.71662087
59Phospholipase D signaling pathway_Homo sapiens_hsa040720.66578278
60Focal adhesion_Homo sapiens_hsa045100.65519547
61Malaria_Homo sapiens_hsa051440.65005703
62Sphingolipid signaling pathway_Homo sapiens_hsa040710.64104677
63Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.63110815
64Parkinsons disease_Homo sapiens_hsa050120.62836426
65Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.61707679
66Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.61609446
67Ras signaling pathway_Homo sapiens_hsa040140.61213643
68Olfactory transduction_Homo sapiens_hsa047400.60405019
69T cell receptor signaling pathway_Homo sapiens_hsa046600.59683882
70Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.59162991
71Morphine addiction_Homo sapiens_hsa050320.55645027
72Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.54591168
73Circadian entrainment_Homo sapiens_hsa047130.53664912
74Long-term depression_Homo sapiens_hsa047300.50100519
75Peroxisome_Homo sapiens_hsa041460.49747743
76Glycerophospholipid metabolism_Homo sapiens_hsa005640.49371737
77Pancreatic cancer_Homo sapiens_hsa052120.48682224
78Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.48574299
79Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.47996080
80Leukocyte transendothelial migration_Homo sapiens_hsa046700.47884849
81Linoleic acid metabolism_Homo sapiens_hsa005910.45508556
82ABC transporters_Homo sapiens_hsa020100.43593455
83Osteoclast differentiation_Homo sapiens_hsa043800.41786948
84Pentose phosphate pathway_Homo sapiens_hsa000300.40402659
85Calcium signaling pathway_Homo sapiens_hsa040200.39897955
86Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38547771
87Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.38441008
88Phosphatidylinositol signaling system_Homo sapiens_hsa040700.38040186
89Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.37432360
90Rap1 signaling pathway_Homo sapiens_hsa040150.36679807
91beta-Alanine metabolism_Homo sapiens_hsa004100.36652210
92Ovarian steroidogenesis_Homo sapiens_hsa049130.36051203
93Amoebiasis_Homo sapiens_hsa051460.34187442
94Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.31013666
95Arginine and proline metabolism_Homo sapiens_hsa003300.30594076
96cGMP-PKG signaling pathway_Homo sapiens_hsa040220.29852368
97Autoimmune thyroid disease_Homo sapiens_hsa053200.29267768
98NF-kappa B signaling pathway_Homo sapiens_hsa040640.28258408
99Melanoma_Homo sapiens_hsa052180.27985698
100Viral myocarditis_Homo sapiens_hsa054160.26134796

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