MARVELD2

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 a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1water-soluble vitamin biosynthetic process (GO:0042364)5.15478735
2sulfur amino acid catabolic process (GO:0000098)4.95123904
3behavioral response to nicotine (GO:0035095)4.83728455
4L-phenylalanine catabolic process (GO:0006559)4.65523588
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.65523588
6intestinal epithelial cell development (GO:0060576)4.58179504
7bundle of His cell to Purkinje myocyte communication (GO:0086069)4.51031201
8L-phenylalanine metabolic process (GO:0006558)4.49612832
9erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.49612832
10cellular glucuronidation (GO:0052695)4.37233287
11interferon-gamma secretion (GO:0072643)4.32216822
12cysteine metabolic process (GO:0006534)4.31000445
13aromatic amino acid family catabolic process (GO:0009074)4.21729293
14transcytosis (GO:0045056)4.18282075
15complement activation, alternative pathway (GO:0006957)4.13758508
16glucuronate metabolic process (GO:0019585)4.07648526
17uronic acid metabolic process (GO:0006063)4.07648526
18indole-containing compound catabolic process (GO:0042436)3.96799951
19indolalkylamine catabolic process (GO:0046218)3.96799951
20tryptophan catabolic process (GO:0006569)3.96799951
21sulfation (GO:0051923)3.89318904
22response to nitrosative stress (GO:0051409)3.82872436
23tryptophan metabolic process (GO:0006568)3.82706619
24high-density lipoprotein particle remodeling (GO:0034375)3.80869113
25intestinal cholesterol absorption (GO:0030299)3.77061682
26membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.74410243
27triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.73344686
28phospholipid efflux (GO:0033700)3.72127593
29intestinal absorption (GO:0050892)3.66156175
30urea cycle (GO:0000050)3.65754314
31urea metabolic process (GO:0019627)3.65754314
32homocysteine metabolic process (GO:0050667)3.65217289
33regulation of protein activation cascade (GO:2000257)3.65211438
34reverse cholesterol transport (GO:0043691)3.64843751
35fucose catabolic process (GO:0019317)3.64372533
36L-fucose metabolic process (GO:0042354)3.64372533
37L-fucose catabolic process (GO:0042355)3.64372533
38desmosome organization (GO:0002934)3.64223146
39kynurenine metabolic process (GO:0070189)3.60553486
40serine family amino acid catabolic process (GO:0009071)3.59030245
41phenylpropanoid metabolic process (GO:0009698)3.58173911
42glyoxylate metabolic process (GO:0046487)3.57039294
43cellular ketone body metabolic process (GO:0046950)3.50496018
44regulation of cholesterol homeostasis (GO:2000188)3.49865957
45flavonoid metabolic process (GO:0009812)3.49742008
46xenobiotic catabolic process (GO:0042178)3.47554453
47regulation of complement activation (GO:0030449)3.46744366
48bile acid biosynthetic process (GO:0006699)3.45181231
49detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)3.44587409
50bile acid and bile salt transport (GO:0015721)3.41712806
51amino-acid betaine metabolic process (GO:0006577)3.41316112
52regulation of cholesterol esterification (GO:0010872)3.39604267
53regulation of mesoderm development (GO:2000380)3.37917305
54membrane repolarization during action potential (GO:0086011)3.36542242
55magnesium ion transport (GO:0015693)3.35496780
56imidazole-containing compound metabolic process (GO:0052803)3.33058003
57gap junction assembly (GO:0016264)3.31974377
58protein complex biogenesis (GO:0070271)3.31192760
59nitrogen cycle metabolic process (GO:0071941)3.27919624
60G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.27087897
61bile acid metabolic process (GO:0008206)3.24405735
62kidney morphogenesis (GO:0060993)3.18352485
63membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.17571619
64benzene-containing compound metabolic process (GO:0042537)3.17547734
65cellular modified amino acid catabolic process (GO:0042219)3.16680645
66regulation of cell-cell adhesion mediated by cadherin (GO:2000047)3.16368316
67drug catabolic process (GO:0042737)3.14790878
68mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.14460946
69mitochondrial respiratory chain complex I assembly (GO:0032981)3.14460946
70NADH dehydrogenase complex assembly (GO:0010257)3.14460946
71negative regulation of cholesterol transport (GO:0032375)3.12951890
72negative regulation of sterol transport (GO:0032372)3.12951890
73retinal metabolic process (GO:0042574)3.11836935
74hepatocyte apoptotic process (GO:0097284)3.11311414
75aromatic amino acid family metabolic process (GO:0009072)3.09834432
763-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.09465236
77purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.09465236
78regulation of hexokinase activity (GO:1903299)3.09135317
79regulation of glucokinase activity (GO:0033131)3.09135317
80ketone body metabolic process (GO:1902224)3.07018047
81fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.06390699
82DNA deamination (GO:0045006)3.05885641
83autophagic vacuole fusion (GO:0000046)3.05226061
84negative regulation of fibrinolysis (GO:0051918)3.01909396
85mitochondrial respiratory chain complex assembly (GO:0033108)3.01596900
86lysine catabolic process (GO:0006554)3.01230141
87lysine metabolic process (GO:0006553)3.01230141
88negative regulation of lipase activity (GO:0060192)3.01118936
89protein carboxylation (GO:0018214)3.00631255
90peptidyl-glutamic acid carboxylation (GO:0017187)3.00631255
91triglyceride homeostasis (GO:0070328)2.99319794
92acylglycerol homeostasis (GO:0055090)2.99319794
93preassembly of GPI anchor in ER membrane (GO:0016254)2.98996130
94regulation of cholesterol biosynthetic process (GO:0045540)2.98419671
95prostate gland growth (GO:0060736)2.96596899
96respiratory chain complex IV assembly (GO:0008535)2.96014198
97regulation of bile acid biosynthetic process (GO:0070857)2.95949401
98regulation of fibrinolysis (GO:0051917)2.94911195
99glycine metabolic process (GO:0006544)2.94002970
100renal absorption (GO:0070293)2.91851576
101urate metabolic process (GO:0046415)2.91836518
102regulation of water loss via skin (GO:0033561)2.91569132
103protein-lipid complex remodeling (GO:0034368)2.91391255
104macromolecular complex remodeling (GO:0034367)2.91391255
105plasma lipoprotein particle remodeling (GO:0034369)2.91391255
106phospholipid homeostasis (GO:0055091)2.90629023
107drug transmembrane transport (GO:0006855)2.90382695
108ethanol metabolic process (GO:0006067)2.88017990
109pyrimidine nucleoside catabolic process (GO:0046135)2.87752186
110serine family amino acid metabolic process (GO:0009069)2.86253893
111primary alcohol catabolic process (GO:0034310)2.84778899
112regulation of triglyceride catabolic process (GO:0010896)2.82787589
113signal transduction involved in regulation of gene expression (GO:0023019)2.82102000
114serotonin metabolic process (GO:0042428)2.81796573
115heme transport (GO:0015886)2.81682969
116reflex (GO:0060004)2.81425999
117endocrine pancreas development (GO:0031018)2.81087303
118establishment of skin barrier (GO:0061436)2.80071579
119regulation of glomerulus development (GO:0090192)2.79563362
120regulation of chemokine secretion (GO:0090196)2.79421237
121calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)2.78841282
122diterpenoid biosynthetic process (GO:0016102)2.78790311
123cellular response to ATP (GO:0071318)2.78588445
124indole-containing compound metabolic process (GO:0042430)2.77959909
125response to pheromone (GO:0019236)2.77635775
126ethanol oxidation (GO:0006069)2.77525742
127primary amino compound metabolic process (GO:1901160)2.76022061
128positive regulation of triglyceride lipase activity (GO:0061365)2.75213787
129positive regulation of lipoprotein lipase activity (GO:0051006)2.75213787
130cholesterol efflux (GO:0033344)2.74692035
131cholesterol homeostasis (GO:0042632)2.72544059
132nephron epithelium morphogenesis (GO:0072088)2.72543421
133nephron tubule morphogenesis (GO:0072078)2.72543421
134positive regulation of Cdc42 GTPase activity (GO:0043089)2.72439155
135regulation of DNA endoreduplication (GO:0032875)2.72354741
136COPII vesicle coating (GO:0048208)2.71990414
137alpha-amino acid catabolic process (GO:1901606)2.71701064
138lipoprotein metabolic process (GO:0042157)2.71527288
139regulation of cholesterol metabolic process (GO:0090181)2.71494940
140indolalkylamine metabolic process (GO:0006586)2.71284357
141negative regulation of DNA-dependent DNA replication (GO:2000104)2.69638087
142regulation of heart rate by cardiac conduction (GO:0086091)2.66312311
143regulation of hippo signaling (GO:0035330)2.66086105
144gamma-aminobutyric acid transport (GO:0015812)2.65000714
145cytochrome complex assembly (GO:0017004)2.64889718
146keratinocyte development (GO:0003334)2.64625335
147negative regulation of transcription regulatory region DNA binding (GO:2000678)2.62474141
148vitamin biosynthetic process (GO:0009110)2.60470595
149regulation of cell proliferation involved in kidney development (GO:1901722)2.59719424
150axoneme assembly (GO:0035082)2.59271747
151detection of light stimulus involved in visual perception (GO:0050908)2.56875096
152detection of light stimulus involved in sensory perception (GO:0050962)2.56875096
153parturition (GO:0007567)2.56263469
154regulation of action potential (GO:0098900)2.55134862
155detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.54787338
156glandular epithelial cell differentiation (GO:0002067)2.54725614
157somite rostral/caudal axis specification (GO:0032525)2.53401153
158oxidative demethylation (GO:0070989)2.51375714
159protein polyglutamylation (GO:0018095)2.51329224
160cornea development in camera-type eye (GO:0061303)2.49434440
161regulation of type B pancreatic cell apoptotic process (GO:2000674)2.48682135
162regulation of gene silencing by RNA (GO:0060966)2.47382157
163regulation of posttranscriptional gene silencing (GO:0060147)2.47382157
164regulation of gene silencing by miRNA (GO:0060964)2.47382157
165thyroid hormone metabolic process (GO:0042403)2.45523304
166establishment of protein localization to mitochondrial membrane (GO:0090151)2.45390031
167glycerophospholipid catabolic process (GO:0046475)2.45201358
168negative regulation of systemic arterial blood pressure (GO:0003085)2.41446847
169negative regulation of membrane potential (GO:0045837)2.40996402
170mannosylation (GO:0097502)2.40855811
171cell proliferation in forebrain (GO:0021846)2.40759840
172dentate gyrus development (GO:0021542)2.39889724
173neuronal action potential (GO:0019228)2.39806299
174GPI anchor metabolic process (GO:0006505)2.39675252
175platelet dense granule organization (GO:0060155)2.38612309
176mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.37602971
177negative regulation of telomere maintenance (GO:0032205)2.36851126
178epithelial cilium movement (GO:0003351)2.36580520
179epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.36527600
180S-adenosylmethionine metabolic process (GO:0046500)2.35508314
181piRNA metabolic process (GO:0034587)2.35065763
182inositol phosphate catabolic process (GO:0071545)2.34884358
183DNA methylation involved in gamete generation (GO:0043046)2.32172139
184polyol catabolic process (GO:0046174)2.31013324
185somite development (GO:0061053)2.30817829
186spinal cord motor neuron differentiation (GO:0021522)2.30214514
187negative regulation of T cell differentiation in thymus (GO:0033085)2.27165468
188regulation of acrosome reaction (GO:0060046)2.27100883
189membrane repolarization (GO:0086009)2.26170493
190exogenous drug catabolic process (GO:0042738)2.25442399
191dopamine transport (GO:0015872)2.25295458

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human6.93977636
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.25149184
3RXR_22158963_ChIP-Seq_LIVER_Mouse4.75720269
4PPARA_22158963_ChIP-Seq_LIVER_Mouse4.47485059
5EGR1_23403033_ChIP-Seq_LIVER_Mouse3.90471606
6FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.84885693
7LXR_22158963_ChIP-Seq_LIVER_Mouse3.78263513
8TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.76260632
9ZNF274_21170338_ChIP-Seq_K562_Hela3.19783164
10CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.19687069
11VDR_22108803_ChIP-Seq_LS180_Human3.05540682
12GBX2_23144817_ChIP-Seq_PC3_Human2.80502860
13STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.73599017
14ZNF263_19887448_ChIP-Seq_K562_Human2.66453611
15FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.62814711
16GATA1_22025678_ChIP-Seq_K562_Human2.60998813
17ESR1_21235772_ChIP-Seq_MCF-7_Human2.55402616
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.54240142
19PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.50349428
20IRF8_22096565_ChIP-ChIP_GC-B_Human2.34378440
21CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.32616594
22HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.28367025
23POU3F2_20337985_ChIP-ChIP_501MEL_Human2.27955641
24SOX2_27498859_Chip-Seq_STOMACH_Mouse2.25890188
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.20264264
26EWS_26573619_Chip-Seq_HEK293_Human2.20249875
27STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.19667452
28GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.19328589
29ESR2_21235772_ChIP-Seq_MCF-7_Human2.18300866
30FUS_26573619_Chip-Seq_HEK293_Human2.17081087
31FLI1_27457419_Chip-Seq_LIVER_Mouse2.14356464
32NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.04833632
33P300_19829295_ChIP-Seq_ESCs_Human2.04818379
34GATA4_25053715_ChIP-Seq_YYC3_Human2.01942289
35IGF1R_20145208_ChIP-Seq_DFB_Human1.98237248
36CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.94516279
37CDX2_20551321_ChIP-Seq_CACO-2_Human1.91796122
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.91500410
39TAF15_26573619_Chip-Seq_HEK293_Human1.91255508
40CTBP2_25329375_ChIP-Seq_LNCAP_Human1.89500721
41SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.87444653
42AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.86065919
43CLOCK_20551151_ChIP-Seq_293T_Human1.85696893
44CTBP1_25329375_ChIP-Seq_LNCAP_Human1.81764744
45HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.79327953
46AR_21909140_ChIP-Seq_LNCAP_Human1.79176085
47FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.78097677
48ER_23166858_ChIP-Seq_MCF-7_Human1.77645435
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.77531955
50GATA6_25053715_ChIP-Seq_YYC3_Human1.73288427
51PCGF2_27294783_Chip-Seq_ESCs_Mouse1.65771540
52ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.64593685
53SOX2_20726797_ChIP-Seq_SW620_Human1.64385082
54EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.63767769
55IRF1_19129219_ChIP-ChIP_H3396_Human1.59845888
56SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.54193718
57MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.50371581
58BCAT_22108803_ChIP-Seq_LS180_Human1.50088732
59TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.49651657
60RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.49181685
61SMAD4_21799915_ChIP-Seq_A2780_Human1.48819742
62UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.48198432
63E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.46057588
64RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.43903962
65FOXO3_23340844_ChIP-Seq_DLD1_Human1.43868730
66ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.42283246
67SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41997811
68AR_25329375_ChIP-Seq_VCAP_Human1.41958674
69STAT3_23295773_ChIP-Seq_U87_Human1.41562295
70NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.40328295
71IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.40136340
72CBP_20019798_ChIP-Seq_JUKART_Human1.40136340
73KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.38418025
74KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.38418025
75KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.38418025
76NR3C1_21868756_ChIP-Seq_MCF10A_Human1.38407422
77SALL1_21062744_ChIP-ChIP_HESCs_Human1.37727448
78EZH2_22144423_ChIP-Seq_EOC_Human1.37400088
79GABP_17652178_ChIP-ChIP_JURKAT_Human1.37265232
80IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.37026218
81FOXA1_25329375_ChIP-Seq_VCAP_Human1.36985187
82FOXA1_27270436_Chip-Seq_PROSTATE_Human1.36985187
83KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.36372948
84SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.36296489
85TCF4_23295773_ChIP-Seq_U87_Human1.35901757
86MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.35189546
87NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.33285609
88SOX2_19829295_ChIP-Seq_ESCs_Human1.33271162
89NANOG_19829295_ChIP-Seq_ESCs_Human1.33271162
90ATF3_27146783_Chip-Seq_COLON_Human1.32785601
91* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.32739341
92MYC_18940864_ChIP-ChIP_HL60_Human1.32738325
93CBX2_27304074_Chip-Seq_ESCs_Mouse1.32055248
94SMAD3_21741376_ChIP-Seq_EPCs_Human1.32024797
95BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.31974681
96SALL4_18804426_ChIP-ChIP_XEN_Mouse1.31916311
97TP53_22573176_ChIP-Seq_HFKS_Human1.31297748
98GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.30602312
99MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.28881596
100EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.28460782
101* TCF4_22108803_ChIP-Seq_LS180_Human1.27119349
102SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26445576
103SUZ12_27294783_Chip-Seq_NPCs_Mouse1.26383606
104SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.25611525
105SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.25611525
106KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.22763507
107RNF2_27304074_Chip-Seq_NSC_Mouse1.21692198
108* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.21515976
109TOP2B_26459242_ChIP-Seq_MCF-7_Human1.20818906
110HIF1A_21447827_ChIP-Seq_MCF-7_Human1.20753675
111NFE2_27457419_Chip-Seq_LIVER_Mouse1.20144160
112RARG_19884340_ChIP-ChIP_MEFs_Mouse1.19489621
113SMAD4_21741376_ChIP-Seq_EPCs_Human1.19178238
114RUNX1_27514584_Chip-Seq_MCF-7_Human1.17788293
115EED_16625203_ChIP-ChIP_MESCs_Mouse1.17537748
116OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17169653
117PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.16789080
118PCGF2_27294783_Chip-Seq_NPCs_Mouse1.16564604
119FOXA1_21572438_ChIP-Seq_LNCaP_Human1.15298497
120KLF5_20875108_ChIP-Seq_MESCs_Mouse1.14838912
121FOXM1_26456572_ChIP-Seq_MCF-7_Human1.14586477
122EZH2_27294783_Chip-Seq_NPCs_Mouse1.14322525
123GATA3_24758297_ChIP-Seq_MCF-7_Human1.14296525
124HOXB7_26014856_ChIP-Seq_BT474_Human1.13828477
125HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.12896927
126NANOG_18555785_Chip-Seq_ESCs_Mouse1.10907666
127AHR_22903824_ChIP-Seq_MCF-7_Human1.10744074
128AUTS2_25519132_ChIP-Seq_293T-REX_Human1.09751326
129NCOR_22424771_ChIP-Seq_293T_Human1.09120638
130REST_21632747_ChIP-Seq_MESCs_Mouse1.09009402
131POU5F1_16153702_ChIP-ChIP_HESCs_Human1.08849367
132ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.08569238
133BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.08486085
134ARNT_22903824_ChIP-Seq_MCF-7_Human1.08476084
135TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.08246014
136TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.07793119
137EST1_17652178_ChIP-ChIP_JURKAT_Human1.07283850
138RUNX2_22187159_ChIP-Seq_PCA_Human1.07222521
139KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.07198022
140STAT3_1855785_ChIP-Seq_MESCs_Mouse1.06881090
141FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.06636377
142GATA3_21878914_ChIP-Seq_MCF-7_Human1.06097408
143ELF1_17652178_ChIP-ChIP_JURKAT_Human1.05947716
144EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.05768105
145FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.05029172
146FLI1_21867929_ChIP-Seq_TH2_Mouse1.03656146
147P53_22387025_ChIP-Seq_ESCs_Mouse1.03408355
148RACK7_27058665_Chip-Seq_MCF-7_Human1.02789647
149EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.02579553
150FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.01736433
151* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.00616232
152TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98860177
153POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98860177
154HTT_18923047_ChIP-ChIP_STHdh_Human0.98423343
155PPAR_26484153_Chip-Seq_NCI-H1993_Human0.98338104
156PRDM14_20953172_ChIP-Seq_ESCs_Human0.98058520
157FOXA2_19822575_ChIP-Seq_HepG2_Human0.97102890
158* HNF4A_19822575_ChIP-Seq_HepG2_Human0.95210853
159TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.94240444
160NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.90928535
161GATA2_21666600_ChIP-Seq_HMVEC_Human0.90000473
162STAT6_21828071_ChIP-Seq_BEAS2B_Human0.88427131
163TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.87838419
164NELFA_20434984_ChIP-Seq_ESCs_Mouse0.84897286
165FOXA1_25552417_ChIP-Seq_VCAP_Human0.84719762
166TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.82817538
167EGR1_19374776_ChIP-ChIP_THP-1_Human0.82809732
168POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.82077887
169ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.81707425
170AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.79034496
171RBPJ_22232070_ChIP-Seq_NCS_Mouse0.78964087
172CHD1_26751641_Chip-Seq_LNCaP_Human0.77351690
173MYC_22102868_ChIP-Seq_BL_Human0.75574981
174RXRA_24833708_ChIP-Seq_LIVER_Mouse0.72981960
175SOX9_24532713_ChIP-Seq_HFSC_Mouse0.72706622
176NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.72270608
177SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.71835578
178KAP1_22055183_ChIP-Seq_ESCs_Mouse0.69032071
179CDX2_22108803_ChIP-Seq_LS180_Human0.68228837
180GATA2_22383799_ChIP-Seq_G1ME_Mouse0.67904531
181NOTCH1_21737748_ChIP-Seq_TLL_Human0.66943411
182ZNF217_24962896_ChIP-Seq_MCF-7_Human0.65733572
183ESR1_20079471_ChIP-ChIP_T-47D_Human0.64934662
184ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.64764373
185IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.64518069
186CEBPB_22108803_ChIP-Seq_LS180_Human0.63548916
187KDM5A_27292631_Chip-Seq_BREAST_Human0.62719737
188STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.61634532
189TCF4_18268006_ChIP-ChIP_LS174T_Human0.61555701
190KLF4_18555785_ChIP-Seq_MESCs_Mouse0.61345217
191GATA2_19941826_ChIP-Seq_K562_Human0.60575083
192CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.60244015
193E2F1_18555785_ChIP-Seq_MESCs_Mouse0.59409170
194AR_20517297_ChIP-Seq_VCAP_Human0.59071874
195KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.58754068

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system4.42890352
2MP0005360_urolithiasis4.33926374
3MP0005085_abnormal_gallbladder_physiolo4.28657097
4MP0010234_abnormal_vibrissa_follicle3.97431545
5MP0005365_abnormal_bile_salt3.64172124
6MP0003252_abnormal_bile_duct3.35435020
7MP0008875_abnormal_xenobiotic_pharmacok2.95193674
8MP0002837_dystrophic_cardiac_calcinosis2.85731885
9MP0005083_abnormal_biliary_tract2.75316882
10MP0001666_abnormal_nutrient_absorption2.71546435
11MP0004264_abnormal_extraembryonic_tissu2.64666731
12MP0002876_abnormal_thyroid_physiology2.39419932
13MP0003191_abnormal_cellular_cholesterol2.36323358
14MP0005646_abnormal_pituitary_gland2.36195181
15MP0002796_impaired_skin_barrier2.19376405
16MP0003806_abnormal_nucleotide_metabolis2.18468800
17MP0003787_abnormal_imprinting2.18374491
18MP0009840_abnormal_foam_cell2.17759559
19MP0006072_abnormal_retinal_apoptosis2.17410900
20MP0002254_reproductive_system_inflammat2.15439260
21MP0001485_abnormal_pinna_reflex2.12795627
22MP0005551_abnormal_eye_electrophysiolog2.11778790
23MP0002138_abnormal_hepatobiliary_system2.04986313
24MP0004885_abnormal_endolymph2.03980770
25MP0002102_abnormal_ear_morphology1.97857535
26MP0008872_abnormal_physiological_respon1.94637408
27MP0004019_abnormal_vitamin_homeostasis1.92128572
28MP0002160_abnormal_reproductive_system1.91949260
29MP0010329_abnormal_lipoprotein_level1.91137788
30MP0005379_endocrine/exocrine_gland_phen1.90017847
31MP0003011_delayed_dark_adaptation1.89739992
32MP0009780_abnormal_chondrocyte_physiolo1.89121250
33MP0002098_abnormal_vibrissa_morphology1.87511250
34MP0003300_gastrointestinal_ulcer1.85652674
35MP0006292_abnormal_olfactory_placode1.82495169
36MP0002163_abnormal_gland_morphology1.80794120
37MP0003453_abnormal_keratinocyte_physiol1.78013118
38MP0004133_heterotaxia1.73626463
39MP0005501_abnormal_skin_physiology1.69764968
40MP0005645_abnormal_hypothalamus_physiol1.66465365
41MP0002938_white_spotting1.66316214
42MP0000631_abnormal_neuroendocrine_gland1.63906402
43MP0005389_reproductive_system_phenotype1.57293342
44MP0002638_abnormal_pupillary_reflex1.53895789
45MP0005332_abnormal_amino_acid1.51307502
46MP0000609_abnormal_liver_physiology1.50461841
47MP0003195_calcinosis1.49378202
48MP0003283_abnormal_digestive_organ1.48858615
49MP0003646_muscle_fatigue1.47056277
50MP0005084_abnormal_gallbladder_morpholo1.46578891
51MP0005253_abnormal_eye_physiology1.46088728
52MP0010352_gastrointestinal_tract_polyps1.44602381
53MP0001984_abnormal_olfaction1.44253708
54MP0001968_abnormal_touch/_nociception1.43919802
55MP0009643_abnormal_urine_homeostasis1.43085577
56MP0009046_muscle_twitch1.41670269
57MP0002909_abnormal_adrenal_gland1.39638723
58MP0010155_abnormal_intestine_physiology1.36370915
59MP0003866_abnormal_defecation1.36192641
60MP0002272_abnormal_nervous_system1.35646291
61MP0003890_abnormal_embryonic-extraembry1.35486894
62MP0003119_abnormal_digestive_system1.34604011
63MP0009745_abnormal_behavioral_response1.34428971
64MP0003941_abnormal_skin_development1.33999226
65MP0010678_abnormal_skin_adnexa1.31528439
66MP0001216_abnormal_epidermal_layer1.30488219
67MP0004145_abnormal_muscle_electrophysio1.30344481
68MP0005220_abnormal_exocrine_pancreas1.29661810
69MP0002009_preneoplasia1.27496413
70MP0004142_abnormal_muscle_tone1.26550189
71MP0001986_abnormal_taste_sensitivity1.26494308
72MP0003878_abnormal_ear_physiology1.26493735
73MP0005377_hearing/vestibular/ear_phenot1.26493735
74MP0002693_abnormal_pancreas_physiology1.23971350
75MP0004043_abnormal_pH_regulation1.21464573
76MP0000377_abnormal_hair_follicle1.19717351
77MP0003718_maternal_effect1.19525489
78MP0004782_abnormal_surfactant_physiolog1.19208406
79MP0000516_abnormal_urinary_system1.18186421
80MP0005367_renal/urinary_system_phenotyp1.18186421
81MP0004215_abnormal_myocardial_fiber1.16425829
82MP0003868_abnormal_feces_composition1.14245828
83MP0002060_abnormal_skin_morphology1.13705371
84MP0003566_abnormal_cell_adhesion1.11920687
85MP0005451_abnormal_body_composition1.11914492
86MP0010386_abnormal_urinary_bladder1.11125255
87MP0004147_increased_porphyrin_level1.10855272
88MP0001765_abnormal_ion_homeostasis1.10025747
89MP0002653_abnormal_ependyma_morphology1.08476855
90MP0001919_abnormal_reproductive_system1.08342249
91MP0003693_abnormal_embryo_hatching1.08282508
92MP0002928_abnormal_bile_duct1.08037852
93MP0002736_abnormal_nociception_after1.07961215
94MP0003705_abnormal_hypodermis_morpholog1.06974849
95MP0002557_abnormal_social/conspecific_i1.06480115
96MP0003937_abnormal_limbs/digits/tail_de1.04962677
97MP0000613_abnormal_salivary_gland1.02382008
98MP0001764_abnormal_homeostasis1.02276503
99MP0005319_abnormal_enzyme/_coenzyme1.02193767
100MP0009053_abnormal_anal_canal1.00960794
101MP0001440_abnormal_grooming_behavior0.97928741
102MP0000477_abnormal_intestine_morphology0.97165296
103MP0005448_abnormal_energy_balance0.94299012
104MP0002118_abnormal_lipid_homeostasis0.94252764
105MP0004947_skin_inflammation0.94247703
106MP0003436_decreased_susceptibility_to0.93942107
107MP0001486_abnormal_startle_reflex0.93150541
108MP0001881_abnormal_mammary_gland0.93070368
109MP0003121_genomic_imprinting0.92756311
110MP0004085_abnormal_heartbeat0.91505111
111MP0009697_abnormal_copulation0.91117522
112MP0009765_abnormal_xenobiotic_induced0.91091643
113MP0003122_maternal_imprinting0.90664570
114MP0001501_abnormal_sleep_pattern0.90393908
115MP0001873_stomach_inflammation0.90151521
116MP0000538_abnormal_urinary_bladder0.89980967
117MP0000569_abnormal_digit_pigmentation0.89905519
118MP0003123_paternal_imprinting0.89737114
119MP0004134_abnormal_chest_morphology0.89419179
120MP0002136_abnormal_kidney_physiology0.88490035
121MP0000230_abnormal_systemic_arterial0.87978321
122MP0001905_abnormal_dopamine_level0.86113581
123MP0005195_abnormal_posterior_eye0.85394986
124MP0002735_abnormal_chemical_nociception0.85260424
125MP0002572_abnormal_emotion/affect_behav0.85041383
126MP0002090_abnormal_vision0.84971419
127MP0000598_abnormal_liver_morphology0.83834589
128MP0003879_abnormal_hair_cell0.83697922
129MP0002734_abnormal_mechanical_nocicepti0.82942883
130MP0002064_seizures0.82900292
131MP0002733_abnormal_thermal_nociception0.82408539
132MP0001970_abnormal_pain_threshold0.82063802
133MP0006276_abnormal_autonomic_nervous0.81846680
134MP0003953_abnormal_hormone_level0.81799799
135MP0008775_abnormal_heart_ventricle0.79834094
136MP0005636_abnormal_mineral_homeostasis0.79618414
137MP0005408_hypopigmentation0.79418027
138MP0008877_abnormal_DNA_methylation0.77824597
139MP0002877_abnormal_melanocyte_morpholog0.76639627
140MP0005395_other_phenotype0.76347644
141MP0006082_CNS_inflammation0.76278688
142MP0000490_abnormal_crypts_of0.76113010
143MP0006054_spinal_hemorrhage0.75347805
144MP0005647_abnormal_sex_gland0.75254745
145MP0005248_abnormal_Harderian_gland0.74519356
146MP0001243_abnormal_dermal_layer0.74033700
147MP0001756_abnormal_urination0.73935267
148MP0005464_abnormal_platelet_physiology0.73670337
149MP0010771_integument_phenotype0.73529560
150MP0000383_abnormal_hair_follicle0.70541896
151MP0000537_abnormal_urethra_morphology0.69476841
152MP0003763_abnormal_thymus_physiology0.69407262
153MP0001845_abnormal_inflammatory_respons0.68995794
154MP0009764_decreased_sensitivity_to0.68959239
155MP0003943_abnormal_hepatobiliary_system0.67604670
156MP0003186_abnormal_redox_activity0.67565449
157MP0008469_abnormal_protein_level0.67390639
158MP0002132_abnormal_respiratory_system0.66879585
159MP0004957_abnormal_blastocyst_morpholog0.66221226
160MP0001346_abnormal_lacrimal_gland0.65333739
161MP0000579_abnormal_nail_morphology0.63846333
162MP0005023_abnormal_wound_healing0.63234653
163MP0002277_abnormal_respiratory_mucosa0.63208241
164MP0005187_abnormal_penis_morphology0.61699323
165MP0009763_increased_sensitivity_to0.61592020
166MP0000627_abnormal_mammary_gland0.61073807
167MP0000427_abnormal_hair_cycle0.59669724
168MP0002006_tumorigenesis0.59466008
169MP0000647_abnormal_sebaceous_gland0.59353876
170MP0005310_abnormal_salivary_gland0.58876986
171MP0000462_abnormal_digestive_system0.57219536
172MP0004381_abnormal_hair_follicle0.57180251
173MP0001944_abnormal_pancreas_morphology0.56552073

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)5.00932301
2Abnormality of aromatic amino acid family metabolism (HP:0004338)4.78170187
3Abnormality of monocarboxylic acid metabolism (HP:0010996)4.66728997
4Hypobetalipoproteinemia (HP:0003563)4.32704549
5Right ventricular cardiomyopathy (HP:0011663)4.08187817
6Lip pit (HP:0100267)4.02701748
7Deep venous thrombosis (HP:0002625)3.96585601
8Pancreatic cysts (HP:0001737)3.92849419
9Abnormality of glutamine family amino acid metabolism (HP:0010902)3.68035009
10Xanthomatosis (HP:0000991)3.63517909
11Prolonged partial thromboplastin time (HP:0003645)3.63488133
12Pancreatic fibrosis (HP:0100732)3.58116836
13Hyperglycinuria (HP:0003108)3.56159993
14Fat malabsorption (HP:0002630)3.52897337
15True hermaphroditism (HP:0010459)3.51319554
16Complement deficiency (HP:0004431)3.40801207
17Conjugated hyperbilirubinemia (HP:0002908)3.27048894
18Abolished electroretinogram (ERG) (HP:0000550)3.24772279
19Nephronophthisis (HP:0000090)3.24060048
20Abnormality of sulfur amino acid metabolism (HP:0004339)3.22148778
21Congenital stationary night blindness (HP:0007642)3.17009366
22Hypoglycemic coma (HP:0001325)3.16236242
23Esophageal varix (HP:0002040)3.13926989
24Abnormality of the renal cortex (HP:0011035)3.13544177
25Gout (HP:0001997)3.07995225
26Abnormality of midbrain morphology (HP:0002418)3.06562069
27Molar tooth sign on MRI (HP:0002419)3.06562069
28Hypolipoproteinemia (HP:0010981)3.02731403
29Epidermoid cyst (HP:0200040)2.99741290
30Abnormality of the common coagulation pathway (HP:0010990)2.98220910
31Onycholysis (HP:0001806)2.92376650
32Stenosis of the external auditory canal (HP:0000402)2.90369403
33Abnormality of serine family amino acid metabolism (HP:0010894)2.89550470
34Abnormality of glycine metabolism (HP:0010895)2.89550470
35Methylmalonic acidemia (HP:0002912)2.86773007
36Decreased circulating renin level (HP:0003351)2.84201981
37Abnormality of the renal medulla (HP:0100957)2.80590785
38Abnormality of the intrinsic pathway (HP:0010989)2.78487147
39Hyperglycinemia (HP:0002154)2.76080380
40Woolly hair (HP:0002224)2.73738353
41Pendular nystagmus (HP:0012043)2.73506741
42Furrowed tongue (HP:0000221)2.73404061
43Renal cortical cysts (HP:0000803)2.65938429
44Hypothermia (HP:0002045)2.64656217
45Type II lissencephaly (HP:0007260)2.63601835
46Conjunctival hamartoma (HP:0100780)2.62426087
47Joint hemorrhage (HP:0005261)2.60356738
48Steatorrhea (HP:0002570)2.59643251
49Hyperammonemia (HP:0001987)2.58466933
50Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.57371268
51Increased IgE level (HP:0003212)2.56723234
52Abnormality of aspartate family amino acid metabolism (HP:0010899)2.55976420
53Late onset (HP:0003584)2.53328734
54Hydroxyprolinuria (HP:0003080)2.51082605
55Abnormality of proline metabolism (HP:0010907)2.51082605
56Tubular atrophy (HP:0000092)2.50060290
57Large for gestational age (HP:0001520)2.49684003
58Ketosis (HP:0001946)2.43963498
59Abnormality of pyrimidine metabolism (HP:0004353)2.43884612
60Abnormality of complement system (HP:0005339)2.43604158
61Abnormality of nucleobase metabolism (HP:0010932)2.42749165
62Aplasia/hypoplasia of the uterus (HP:0008684)2.42194236
63Abnormality of purine metabolism (HP:0004352)2.42181442
64Cystic liver disease (HP:0006706)2.42177508
65Methylmalonic aciduria (HP:0012120)2.41598435
66Pustule (HP:0200039)2.40642990
67Pili torti (HP:0003777)2.40560883
68Malnutrition (HP:0004395)2.40510308
69Chronic hepatic failure (HP:0100626)2.37961155
70Abnormality of fatty-acid metabolism (HP:0004359)2.37780229
71Abnormal biliary tract morphology (HP:0012440)2.35505570
72Decreased electroretinogram (ERG) amplitude (HP:0000654)2.34295985
73Myocardial infarction (HP:0001658)2.34167477
74Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.34136092
75Abnormality of alanine metabolism (HP:0010916)2.34136092
76Hyperalaninemia (HP:0003348)2.34136092
77Hypoplasia of the uterus (HP:0000013)2.32342149
78Abnormality of methionine metabolism (HP:0010901)2.31366515
79Hypochromic microcytic anemia (HP:0004840)2.30298150
80Abnormal rod and cone electroretinograms (HP:0008323)2.30004274
81Hyperbilirubinemia (HP:0002904)2.27691511
82Hypoalphalipoproteinemia (HP:0003233)2.27267864
83Medial flaring of the eyebrow (HP:0010747)2.27082462
84Attenuation of retinal blood vessels (HP:0007843)2.24689728
85Hyperlipoproteinemia (HP:0010980)2.24477876
86Hepatocellular carcinoma (HP:0001402)2.23113167
87Abnormal hemoglobin (HP:0011902)2.21189438
88Abnormality of vitamin B metabolism (HP:0004340)2.20453851
89Hamartoma of the eye (HP:0010568)2.20248276
90Generalized aminoaciduria (HP:0002909)2.19916225
91Micronodular cirrhosis (HP:0001413)2.19711322
92Ketoacidosis (HP:0001993)2.19126927
93Hyperglycemia (HP:0003074)2.18541660
94Aplasia/Hypoplasia of the tibia (HP:0005772)2.17372573
95Aplasia/Hypoplasia of the spleen (HP:0010451)2.16442435
96Systemic lupus erythematosus (HP:0002725)2.16070582
97Abnormality of the gastric mucosa (HP:0004295)2.15499091
98Plantar hyperkeratosis (HP:0007556)2.15150800
99Sclerocornea (HP:0000647)2.14923474
100Progressive cerebellar ataxia (HP:0002073)2.14466326
101Abdominal distention (HP:0003270)2.14423421
102Asplenia (HP:0001746)2.13983487
103Male pseudohermaphroditism (HP:0000037)2.13947754
104Polydipsia (HP:0001959)2.13620753
105Abnormal drinking behavior (HP:0030082)2.13620753
106Hypotrichosis (HP:0001006)2.11766264
107Goiter (HP:0000853)2.10755153
108Vascular calcification (HP:0004934)2.07748801
109Biliary tract neoplasm (HP:0100574)2.07357085
110Gaze-evoked nystagmus (HP:0000640)2.07339840
111Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.06569988
112Glomerulonephritis (HP:0000099)2.05331984
113Keratoconus (HP:0000563)2.04987450
114Increased corneal curvature (HP:0100692)2.04987450
115Genetic anticipation (HP:0003743)2.04963222
116Short hallux (HP:0010109)2.04543120
117Congenital ichthyosiform erythroderma (HP:0007431)2.03942051
118Abnormality of small intestinal villus morphology (HP:0011472)2.03732243
119Villous atrophy (HP:0011473)2.03732243
120Hypercholesterolemia (HP:0003124)2.03663086
121Decreased central vision (HP:0007663)2.02597354
122Abnormality of renin-angiotensin system (HP:0000847)2.02079051
123Vacuolated lymphocytes (HP:0001922)2.01278219
124Agitation (HP:0000713)2.00648689
125Abnormality of the pons (HP:0007361)2.00536336
126Abnormal pancreas size (HP:0012094)1.98873689
127Curly hair (HP:0002212)1.98343525
128Aplasia/Hypoplasia of the hallux (HP:0008362)1.98264274
129Hyperinsulinemic hypoglycemia (HP:0000825)1.97859464
130Chorioretinal atrophy (HP:0000533)1.97589372
131Neoplasm of the adrenal cortex (HP:0100641)1.97576121
132Metabolic acidosis (HP:0001942)1.97515421
133Abnormal platelet function (HP:0011869)1.97161074
134Impaired platelet aggregation (HP:0003540)1.97161074
135Abnormality of chloride homeostasis (HP:0011422)1.96640437
136Short tibia (HP:0005736)1.96215054
137Hypoplasia of the pons (HP:0012110)1.95877733
138Abnormality of urine glucose concentration (HP:0011016)1.95845115
139Glycosuria (HP:0003076)1.95845115
140Progressive macrocephaly (HP:0004481)1.95810131
141Acute necrotizing encephalopathy (HP:0006965)1.94902708
142Sparse eyelashes (HP:0000653)1.94110983
143Proximal tubulopathy (HP:0000114)1.92286535
144Abnormal enzyme/coenzyme activity (HP:0012379)1.91299456
145Hyperventilation (HP:0002883)1.91257204
146Hyperactive renin-angiotensin system (HP:0000841)1.91094313
147Menorrhagia (HP:0000132)1.90537522
148Aplasia/Hypoplasia of the tongue (HP:0010295)1.90440570
149Hypoglycemic seizures (HP:0002173)1.90372204
1503-Methylglutaconic aciduria (HP:0003535)1.89849031
151Concave nail (HP:0001598)1.88872396
152Abnormality of the proximal phalanges of the hand (HP:0009834)1.88773012
153Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.88116410
154Congenital sensorineural hearing impairment (HP:0008527)1.86831084
155Dicarboxylic aciduria (HP:0003215)1.86595818
156Abnormality of dicarboxylic acid metabolism (HP:0010995)1.86595818
157Potter facies (HP:0002009)1.85962397
158Facial shape deformation (HP:0011334)1.85962397
159Congenital, generalized hypertrichosis (HP:0004540)1.85860974
160Progressive inability to walk (HP:0002505)1.84999680
161Bony spicule pigmentary retinopathy (HP:0007737)1.84371063
162Popliteal pterygium (HP:0009756)1.84193488
163Acute encephalopathy (HP:0006846)1.83526034
164Increased purine levels (HP:0004368)1.83036204
165Hyperuricemia (HP:0002149)1.83036204
166Mitochondrial inheritance (HP:0001427)1.82559377
167Abnormality of the nasal septum (HP:0000419)1.82055096
168Abnormality of alkaline phosphatase activity (HP:0004379)1.81950690
169Abnormality of secondary sexual hair (HP:0009888)1.81778259
170Abnormality of the axillary hair (HP:0100134)1.81778259
171Increased CSF lactate (HP:0002490)1.80520274
172Rickets (HP:0002748)1.80481281
173Intestinal atresia (HP:0011100)1.80419970
174Confusion (HP:0001289)1.79405172
175Hypomagnesemia (HP:0002917)1.78825593
176Metabolic alkalosis (HP:0200114)1.77664196
177Optic nerve hypoplasia (HP:0000609)1.75199336
178Abnormality of the vitamin B12 metabolism (HP:0004341)1.74707390
179Inability to walk (HP:0002540)1.74554694
180Hemiparesis (HP:0001269)1.74370642
181Anencephaly (HP:0002323)1.74118029
182Absent/shortened dynein arms (HP:0200106)1.72742752
183Dynein arm defect of respiratory motile cilia (HP:0012255)1.72742752
184Abnormality of the renal collecting system (HP:0004742)1.72623553
185Polyuria (HP:0000103)1.72496552
186Genital tract atresia (HP:0001827)1.72268191
187Meningioma (HP:0002858)1.71832441
188Abnormality of vitamin metabolism (HP:0100508)1.71190415
189Abnormality of the middle phalanges of the toes (HP:0010183)1.70580524
190Abnormality of the labia minora (HP:0012880)1.70079598

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA24.94381101
2MST43.75166343
3STK38L3.54923478
4ADRBK22.94525964
5ERN12.82686829
6BMPR1B2.76449803
7NUAK12.70111086
8MAP2K22.57514549
9FRK2.42066152
10WNK42.30930725
11ZAK2.28975423
12WNK32.26983487
13MAP4K22.19583392
14STK392.10835313
15PDK22.03439674
16RPS6KB21.91916739
17FGFR21.89091230
18MAPK151.88459502
19TLK11.85557349
20TNIK1.82502806
21OXSR11.80020634
22FGFR41.79910374
23BCKDK1.76150653
24MAP3K31.76063269
25NEK91.71568530
26TAOK31.68349020
27CASK1.66019589
28TRIM281.64377755
29LATS11.58794922
30STK101.58051426
31MAP4K11.57458459
32PINK11.50219756
33MST1R1.49496522
34MKNK21.45471174
35TGFBR21.44309108
36TGFBR11.44295691
37MAP3K41.43841898
38MAP3K21.34515723
39MAP3K71.32129779
40PTK61.31290608
41INSRR1.30137563
42TEC1.28238846
43PAK31.26611557
44FLT31.25957616
45NLK1.24953135
46PRKCE1.24944172
47PIK3CA1.20878142
48IRAK31.19780996
49TYK21.19682603
50CDK61.17917368
51DAPK21.17599844
52TAF11.16998239
53RPS6KA41.14662502
54TIE11.13701078
55MAP3K141.11847912
56FER1.07865515
57EPHB21.05786007
58PHKG11.04917018
59PHKG21.04917018
60CSNK1G11.04853591
61PRKCI1.04511568
62EIF2AK31.03096945
63CHUK1.02318219
64PLK41.00913024
65SIK11.00818033
66KDR1.00630321
67PRKCG1.00096848
68PLK20.99265425
69MAPK130.98838455
70RIPK10.97855151
71ACVR1B0.97748422
72LRRK20.97577633
73MAPKAPK30.96561902
74DYRK1B0.95102625
75ADRBK10.94688297
76GRK10.92437912
77TXK0.91796536
78TRIB30.91761799
79MATK0.91345915
80CSNK1G20.90894128
81TBK10.89506791
82IKBKE0.89354471
83PLK30.86749747
84CSNK1G30.84705043
85BUB10.84505994
86STK160.84225495
87VRK10.83163306
88NTRK30.82982672
89IKBKB0.80950955
90NEK60.79850989
91ERBB20.79517276
92MAP2K60.79292650
93MELK0.78678786
94MAP2K10.77990886
95PASK0.77177795
96TAOK10.76962426
97VRK20.74082620
98TTK0.72899979
99CSNK1A1L0.72581406
100PKN20.69911744
101BLK0.69274052
102ERBB40.69085017
103SGK20.68791756
104AKT30.68649070
105PIM20.68556752
106EPHA30.67970612
107AURKB0.65933152
108BRSK20.64784993
109DYRK20.64273781
110ZAP700.63988592
111PTK2B0.63641340
112DYRK30.63176189
113PTK20.63101198
114BMPR20.60772499
115MAP2K30.60518640
116CSNK1A10.59815031
117PNCK0.59123055
118MAPK110.58378206
119TAOK20.57533586
120CSK0.57102169
121PRKG20.57004206
122CDK40.56135292
123MUSK0.55306669
124PIM10.55074710
125PIK3CG0.52791435
126MAP3K110.52394032
127MAP3K80.51482659
128STK110.50349188
129PRKACA0.50326759
130ERBB30.49371164
131NME10.49323594
132TESK10.48431259
133BTK0.48190956
134LMTK20.48123754
135MAPKAPK50.47386662
136RAF10.46740574
137MAP2K70.46001304
138DMPK0.45465920
139STK30.45224463
140PLK10.44594716
141SGK2230.44464390
142SGK4940.44464390
143STK240.44379692
144CAMK2D0.44038825
145CAMK2A0.43936056
146MKNK10.42964837
147RPS6KA50.41791972
148PRKCA0.40991707
149PRKAA10.40169337
150ILK0.39225802
151GRK70.38462082
152GRK50.37994183
153BCR0.37680150
154MAP3K120.36437062
155PRKCZ0.36245564
156JAK20.35705209
157CAMKK20.35274629
158CDK70.35233973
159MAP3K10.35028796
160TSSK60.34921482
161CSNK1D0.34810195
162HIPK20.34379298
163PRKAA20.33808789
164PRKD20.33778600
165MAPK70.33665515
166EIF2AK10.32169845

Predicted pathways (KEGG)

RankGene SetZ-score
1Ascorbate and aldarate metabolism_Homo sapiens_hsa000534.20624037
2Pentose and glucuronate interconversions_Homo sapiens_hsa000403.38035828
3Primary bile acid biosynthesis_Homo sapiens_hsa001203.10668919
4Maturity onset diabetes of the young_Homo sapiens_hsa049502.89466307
5Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.69837176
6Sulfur metabolism_Homo sapiens_hsa009202.43500848
7Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.43200782
8Histidine metabolism_Homo sapiens_hsa003402.25775385
9Tryptophan metabolism_Homo sapiens_hsa003802.23225802
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.22623965
11Chemical carcinogenesis_Homo sapiens_hsa052042.22586120
12Complement and coagulation cascades_Homo sapiens_hsa046102.21173094
13Phototransduction_Homo sapiens_hsa047442.16967411
14Fatty acid degradation_Homo sapiens_hsa000712.15804636
15Drug metabolism - other enzymes_Homo sapiens_hsa009832.11739573
16Retinol metabolism_Homo sapiens_hsa008302.07217417
17Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.03159533
18Nitrogen metabolism_Homo sapiens_hsa009102.01769039
19Oxidative phosphorylation_Homo sapiens_hsa001901.99057678
20Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.92084599
21Selenocompound metabolism_Homo sapiens_hsa004501.86261721
22Folate biosynthesis_Homo sapiens_hsa007901.82605584
23Steroid hormone biosynthesis_Homo sapiens_hsa001401.81392451
24Fat digestion and absorption_Homo sapiens_hsa049751.81267139
25Arginine biosynthesis_Homo sapiens_hsa002201.75215855
26Staphylococcus aureus infection_Homo sapiens_hsa051501.74369555
27Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.73585439
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.68642446
29Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.68134511
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.65427058
31Peroxisome_Homo sapiens_hsa041461.62479745
32Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.61512564
33Butanoate metabolism_Homo sapiens_hsa006501.60379862
34Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.60053762
35Vitamin digestion and absorption_Homo sapiens_hsa049771.58613539
36Starch and sucrose metabolism_Homo sapiens_hsa005001.53080009
37beta-Alanine metabolism_Homo sapiens_hsa004101.52918298
38Homologous recombination_Homo sapiens_hsa034401.45189318
39Caffeine metabolism_Homo sapiens_hsa002321.44141508
40Ether lipid metabolism_Homo sapiens_hsa005651.39701922
41Nicotine addiction_Homo sapiens_hsa050331.38492813
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.38310641
43Insulin secretion_Homo sapiens_hsa049111.36760384
44Tyrosine metabolism_Homo sapiens_hsa003501.36002207
45Glutathione metabolism_Homo sapiens_hsa004801.31571678
46Basal transcription factors_Homo sapiens_hsa030221.29449080
47Phenylalanine metabolism_Homo sapiens_hsa003601.27304024
48ABC transporters_Homo sapiens_hsa020101.26882396
49Parkinsons disease_Homo sapiens_hsa050121.25089381
50Cyanoamino acid metabolism_Homo sapiens_hsa004601.21777338
51RNA polymerase_Homo sapiens_hsa030201.18154870
52PPAR signaling pathway_Homo sapiens_hsa033201.09875055
53Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.09624265
54Propanoate metabolism_Homo sapiens_hsa006401.08924517
55Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.07092738
56Bile secretion_Homo sapiens_hsa049761.05672324
57Collecting duct acid secretion_Homo sapiens_hsa049661.03467008
58Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.02707246
59RNA degradation_Homo sapiens_hsa030181.02281551
60Fanconi anemia pathway_Homo sapiens_hsa034600.97613831
61Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.94428070
62Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.92432092
63Taste transduction_Homo sapiens_hsa047420.90334359
64Serotonergic synapse_Homo sapiens_hsa047260.90328098
65Alzheimers disease_Homo sapiens_hsa050100.89645890
66Pyruvate metabolism_Homo sapiens_hsa006200.89552234
67Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.86575329
68Fatty acid metabolism_Homo sapiens_hsa012120.86132223
69Cysteine and methionine metabolism_Homo sapiens_hsa002700.86060535
70Galactose metabolism_Homo sapiens_hsa000520.85400971
71Huntingtons disease_Homo sapiens_hsa050160.84783440
72Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.83860656
73Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.83494745
74Cardiac muscle contraction_Homo sapiens_hsa042600.81671806
75Adherens junction_Homo sapiens_hsa045200.81248550
76Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.78841716
77Glycerolipid metabolism_Homo sapiens_hsa005610.76953284
78Morphine addiction_Homo sapiens_hsa050320.74914446
79Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74459947
80Olfactory transduction_Homo sapiens_hsa047400.73710363
81Regulation of autophagy_Homo sapiens_hsa041400.73210353
82Mineral absorption_Homo sapiens_hsa049780.69987923
83Circadian entrainment_Homo sapiens_hsa047130.64895515
84Sulfur relay system_Homo sapiens_hsa041220.64625877
85Circadian rhythm_Homo sapiens_hsa047100.63868822
86Arginine and proline metabolism_Homo sapiens_hsa003300.63491811
87Glutamatergic synapse_Homo sapiens_hsa047240.63175317
88Arachidonic acid metabolism_Homo sapiens_hsa005900.63015110
89GABAergic synapse_Homo sapiens_hsa047270.63003868
90Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62879260
91Steroid biosynthesis_Homo sapiens_hsa001000.62803760
92Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.62408103
93Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.61244363
94alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.60895141
95Linoleic acid metabolism_Homo sapiens_hsa005910.58972027
96One carbon pool by folate_Homo sapiens_hsa006700.58478563
97Protein export_Homo sapiens_hsa030600.57443948
98Ovarian steroidogenesis_Homo sapiens_hsa049130.56508652
99Tight junction_Homo sapiens_hsa045300.55557823
100Carbon metabolism_Homo sapiens_hsa012000.54515296
101Leukocyte transendothelial migration_Homo sapiens_hsa046700.53165626
102Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.52894570
103Purine metabolism_Homo sapiens_hsa002300.52036682
104Proteasome_Homo sapiens_hsa030500.51901817
105Lysine degradation_Homo sapiens_hsa003100.51101805
106NOD-like receptor signaling pathway_Homo sapiens_hsa046210.50263574
107Hepatitis C_Homo sapiens_hsa051600.49645414
108Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.49299197
109RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.47100694
110Pentose phosphate pathway_Homo sapiens_hsa000300.46945964
111NF-kappa B signaling pathway_Homo sapiens_hsa040640.46398199
112Sphingolipid metabolism_Homo sapiens_hsa006000.46146327
113Renin secretion_Homo sapiens_hsa049240.43890276
114Intestinal immune network for IgA production_Homo sapiens_hsa046720.42830473
115Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.42453912
116Ribosome_Homo sapiens_hsa030100.40396597
117Fructose and mannose metabolism_Homo sapiens_hsa000510.38644882
118Dopaminergic synapse_Homo sapiens_hsa047280.38243220
119Pancreatic secretion_Homo sapiens_hsa049720.37905582
120Legionellosis_Homo sapiens_hsa051340.37742575
121Metabolic pathways_Homo sapiens_hsa011000.36660523
122Salivary secretion_Homo sapiens_hsa049700.36134607
123Fatty acid biosynthesis_Homo sapiens_hsa000610.35955262
124Biosynthesis of amino acids_Homo sapiens_hsa012300.35547836
125Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.34317978
126Insulin resistance_Homo sapiens_hsa049310.34276382
127Other glycan degradation_Homo sapiens_hsa005110.34113755
128Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.33278704
129Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.31431630
130Toxoplasmosis_Homo sapiens_hsa051450.29955767
131Thyroid cancer_Homo sapiens_hsa052160.29898340
132Glycerophospholipid metabolism_Homo sapiens_hsa005640.29796969
133Leishmaniasis_Homo sapiens_hsa051400.29706707
134Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.28681068
135Protein digestion and absorption_Homo sapiens_hsa049740.28069248
136Vitamin B6 metabolism_Homo sapiens_hsa007500.27831527
137Glycosaminoglycan degradation_Homo sapiens_hsa005310.26907241
138Renin-angiotensin system_Homo sapiens_hsa046140.26281218
139Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.23462072
140Antigen processing and presentation_Homo sapiens_hsa046120.23008446
1412-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.22426602
142TNF signaling pathway_Homo sapiens_hsa046680.21629659
143Fatty acid elongation_Homo sapiens_hsa000620.17749822
144Herpes simplex infection_Homo sapiens_hsa051680.17097952

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