BTBD16

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: This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1motile cilium assembly (GO:0044458)9.48150914
2epithelial cilium movement (GO:0003351)9.35069229
3plasma membrane fusion (GO:0045026)9.34432625
4citrulline biosynthetic process (GO:0019240)9.17649334
5binding of sperm to zona pellucida (GO:0007339)9.14480661
6cell-cell recognition (GO:0009988)9.13684435
7spermatid development (GO:0007286)8.56753272
8reproduction (GO:0000003)8.56516374
9cilium movement (GO:0003341)7.93544400
10regulation of cilium movement (GO:0003352)7.87295750
11epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.69722850
12piRNA metabolic process (GO:0034587)7.44345533
13single fertilization (GO:0007338)7.00639620
14male meiosis (GO:0007140)6.77315900
15xenobiotic catabolic process (GO:0042178)6.69885714
16sperm capacitation (GO:0048240)6.68338989
17one-carbon compound transport (GO:0019755)6.45406147
18synaptonemal complex organization (GO:0070193)6.35318373
19negative regulation of inclusion body assembly (GO:0090084)6.29881390
20citrulline metabolic process (GO:0000052)6.16740016
21microtubule depolymerization (GO:0007019)6.06780114
22synaptonemal complex assembly (GO:0007130)6.00355067
23spermatogenesis (GO:0007283)5.95396526
24male gamete generation (GO:0048232)5.93224360
25fertilization (GO:0009566)5.81386069
26response to nitrosative stress (GO:0051409)5.52049594
27DNA methylation involved in gamete generation (GO:0043046)5.48722106
28gamete generation (GO:0007276)5.47403439
29organic cation transport (GO:0015695)5.36246424
30desmosome organization (GO:0002934)5.30819799
31ventricular system development (GO:0021591)5.04919630
32cellular glucuronidation (GO:0052695)5.04907222
33negative regulation of fibrinolysis (GO:0051918)4.91429317
34germ cell development (GO:0007281)4.87075200
35regulation of inclusion body assembly (GO:0090083)4.86127746
36calcium ion-dependent exocytosis (GO:0017156)4.84710407
37cellular process involved in reproduction in multicellular organism (GO:0022412)4.82755389
38response to phenylpropanoid (GO:0080184)4.77712705
39microtubule severing (GO:0051013)4.76288394
40glucuronate metabolic process (GO:0019585)4.69156966
41uronic acid metabolic process (GO:0006063)4.69156966
42regulation of fibrinolysis (GO:0051917)4.65577851
43male meiosis I (GO:0007141)4.63929746
44L-phenylalanine metabolic process (GO:0006558)4.63207792
45erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.63207792
46flavonoid metabolic process (GO:0009812)4.59729769
47cell recognition (GO:0008037)4.51568920
48axon ensheathment in central nervous system (GO:0032291)4.51409286
49central nervous system myelination (GO:0022010)4.51409286
50L-phenylalanine catabolic process (GO:0006559)4.50846644
51erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.50846644
52chromosome organization involved in meiosis (GO:0070192)4.41910114
53phosphatidylinositol acyl-chain remodeling (GO:0036149)4.38940089
54protein K11-linked deubiquitination (GO:0035871)4.33422708
55lung epithelium development (GO:0060428)4.30744720
56multicellular organismal reproductive process (GO:0048609)4.28119431
57phosphatidylserine acyl-chain remodeling (GO:0036150)4.22080352
58intestinal cholesterol absorption (GO:0030299)4.19428702
59regulation of microtubule-based movement (GO:0060632)4.19337563
60regulation of protein activation cascade (GO:2000257)4.17386486
61regulation of complement activation (GO:0030449)4.09532284
62very-low-density lipoprotein particle assembly (GO:0034379)4.05598064
63establishment of skin barrier (GO:0061436)4.03912199
64phosphatidylglycerol acyl-chain remodeling (GO:0036148)4.00764506
65protein carboxylation (GO:0018214)3.99641900
66peptidyl-glutamic acid carboxylation (GO:0017187)3.99641900
67seminiferous tubule development (GO:0072520)3.91242271
68left/right pattern formation (GO:0060972)3.90391424
69peptidyl-arginine modification (GO:0018195)3.90376448
70meiotic nuclear division (GO:0007126)3.83493999
71protein polyglutamylation (GO:0018095)3.80543888
72low-density lipoprotein particle remodeling (GO:0034374)3.79370144
73protein localization to cilium (GO:0061512)3.78101579
74meiotic cell cycle (GO:0051321)3.74449504
75microtubule polymerization or depolymerization (GO:0031109)3.70635059
76chondrocyte proliferation (GO:0035988)3.68799203
77drinking behavior (GO:0042756)3.66470688
78sodium ion homeostasis (GO:0055078)3.64477883
79regulation of cholesterol homeostasis (GO:2000188)3.62076364
80spermatid nucleus differentiation (GO:0007289)3.61128010
81regulation of cholesterol biosynthetic process (GO:0045540)3.60996357
82regulation of water loss via skin (GO:0033561)3.60353343
83renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)3.60191463
84multicellular organismal water homeostasis (GO:0050891)3.59386921
85intraciliary transport (GO:0042073)3.59154065
86plasma lipoprotein particle assembly (GO:0034377)3.57067589
87polyketide metabolic process (GO:0030638)3.55453687
88doxorubicin metabolic process (GO:0044598)3.55453687
89daunorubicin metabolic process (GO:0044597)3.55453687
90glycerol ether metabolic process (GO:0006662)3.54174129
91negative regulation of lipase activity (GO:0060192)3.52325761
92cholesterol efflux (GO:0033344)3.51680581
93negative regulation of protein activation cascade (GO:2000258)3.50171339
94monoubiquitinated protein deubiquitination (GO:0035520)3.48671765
95meiosis I (GO:0007127)3.46633821
96centriole assembly (GO:0098534)3.45614705
97multicellular organismal development (GO:0007275)3.44537573
98DNA packaging (GO:0006323)3.44323425
99regulation of cholesterol esterification (GO:0010872)3.38024463
100chromosome condensation (GO:0030261)3.36268948
101axoneme assembly (GO:0035082)3.32844584
102single strand break repair (GO:0000012)3.28879763
103regulation of spindle checkpoint (GO:0090231)3.28397899
104ether metabolic process (GO:0018904)3.27955477
105protein-lipid complex remodeling (GO:0034368)3.25841884
106macromolecular complex remodeling (GO:0034367)3.25841884
107plasma lipoprotein particle remodeling (GO:0034369)3.25841884
108cilium organization (GO:0044782)3.25804976
109aminoglycoside antibiotic metabolic process (GO:0030647)3.22594155
110fibrinolysis (GO:0042730)3.22079937
111blood coagulation, intrinsic pathway (GO:0007597)3.21443016
112benzene-containing compound metabolic process (GO:0042537)3.21252015
113intestinal epithelial cell development (GO:0060576)3.20973183
114high-density lipoprotein particle remodeling (GO:0034375)3.19942737
115cilium assembly (GO:0042384)3.19000761
116protein-lipid complex assembly (GO:0065005)3.18393354
117positive regulation of extracellular matrix organization (GO:1903055)3.17917817
118synapsis (GO:0007129)3.16312271
119fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.14991999
120cellular component assembly involved in morphogenesis (GO:0010927)3.14201252
121water homeostasis (GO:0030104)3.13658073
1224-hydroxyproline metabolic process (GO:0019471)3.12394092
123positive regulation of cellular amine metabolic process (GO:0033240)3.12305826
124phosphatidylserine metabolic process (GO:0006658)3.11632486
125artery smooth muscle contraction (GO:0014824)3.11560601
126keratinization (GO:0031424)3.08233082
127embryonic retina morphogenesis in camera-type eye (GO:0060059)3.07587609
128negative regulation of complement activation (GO:0045916)3.03446961
129reverse cholesterol transport (GO:0043691)3.01727696
130cilium morphogenesis (GO:0060271)3.00057088
131renal absorption (GO:0070293)2.98287640
132regulation of bile acid biosynthetic process (GO:0070857)2.97432991
133ethanol oxidation (GO:0006069)2.95167536
134C21-steroid hormone metabolic process (GO:0008207)2.95031029
135phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.94740351
136nephron epithelium morphogenesis (GO:0072088)2.94144388
137nephron tubule morphogenesis (GO:0072078)2.94144388
138glutathione derivative biosynthetic process (GO:1901687)2.93257008
139glutathione derivative metabolic process (GO:1901685)2.93257008
140genitalia morphogenesis (GO:0035112)2.91263362
141positive regulation of transforming growth factor beta production (GO:0071636)2.85483556
142aromatic amino acid family catabolic process (GO:0009074)2.85091721
143plasma lipoprotein particle organization (GO:0071827)2.84368550
144regulation of metalloenzyme activity (GO:0048552)2.83463807
145inner ear receptor cell differentiation (GO:0060113)2.82265827
146lipoprotein metabolic process (GO:0042157)2.80697084
147ethanol metabolic process (GO:0006067)2.80026135
148intestinal absorption (GO:0050892)2.78913096
149polyol catabolic process (GO:0046174)2.78775201
150phosphatidylcholine acyl-chain remodeling (GO:0036151)2.78250349
151centriole replication (GO:0007099)2.78116566
152nucleoside diphosphate phosphorylation (GO:0006165)2.75175344
153glutamate metabolic process (GO:0006536)2.73830398
154tonic smooth muscle contraction (GO:0014820)2.72255793
155negative regulation of coagulation (GO:0050819)2.71880471
156keratinocyte proliferation (GO:0043616)2.71631385
157negative regulation of hemostasis (GO:1900047)2.68668769
158negative regulation of blood coagulation (GO:0030195)2.68668769
159microtubule-based movement (GO:0007018)2.67977688
160protein-lipid complex subunit organization (GO:0071825)2.67679516
161negative regulation of cholesterol transport (GO:0032375)2.66871103
162negative regulation of sterol transport (GO:0032372)2.66871103
163alditol phosphate metabolic process (GO:0052646)2.66615478
164regulation of extracellular matrix organization (GO:1903053)2.66272110
165sequestering of actin monomers (GO:0042989)2.65817287
166regulation of apoptotic cell clearance (GO:2000425)2.62148695
167regulation of plasminogen activation (GO:0010755)2.61676899
168negative regulation of skeletal muscle tissue development (GO:0048642)2.60990450
169meiotic cell cycle process (GO:1903046)2.55824101
170GTP biosynthetic process (GO:0006183)2.51837167
171positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)2.51206324
172protein refolding (GO:0042026)2.50894971
173alditol metabolic process (GO:0019400)2.48436652
174cellular response to gamma radiation (GO:0071480)2.45110774
175RNA destabilization (GO:0050779)2.45030114
176lactate metabolic process (GO:0006089)2.42897564
177chaperone-mediated protein complex assembly (GO:0051131)2.42389936
178polyol transport (GO:0015791)2.40355574
179left/right axis specification (GO:0070986)2.38894460
180nucleus organization (GO:0006997)2.34795636
181peptidyl-glutamic acid modification (GO:0018200)2.31002726
182calcium ion import (GO:0070509)2.30849711
183glycerol metabolic process (GO:0006071)2.26979843
184female gonad development (GO:0008585)2.26711019
185RNA localization (GO:0006403)2.22997716
186mitochondrion degradation (GO:0000422)2.19451719
187regulation of cilium assembly (GO:1902017)2.18864233
188sexual reproduction (GO:0019953)2.17575481
189regulation of meiosis I (GO:0060631)2.15612128
190regulation of protein polyubiquitination (GO:1902914)2.14041393
191fusion of sperm to egg plasma membrane (GO:0007342)12.3016171
192sperm motility (GO:0030317)12.2244338
193acrosome reaction (GO:0007340)11.1282940
194cilium or flagellum-dependent cell motility (GO:0001539)10.7090065
195cell wall macromolecule metabolic process (GO:0044036)10.6940466
196cell wall macromolecule catabolic process (GO:0016998)10.6940466
197acrosome assembly (GO:0001675)10.5785895
198multicellular organism reproduction (GO:0032504)10.3907091
199axonemal dynein complex assembly (GO:0070286)10.1231077
200sperm-egg recognition (GO:0035036)10.1225972

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human7.33109310
2MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse6.27327203
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.66538488
4ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.42782225
5EZH2_22144423_ChIP-Seq_EOC_Human3.78563845
6TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.40641982
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.30017555
8CDX2_20551321_ChIP-Seq_CACO-2_Human3.14835929
9ESR2_21235772_ChIP-Seq_MCF-7_Human3.11707350
10SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.00150741
11ZNF263_19887448_ChIP-Seq_K562_Human2.94315939
12RXR_22158963_ChIP-Seq_LIVER_Mouse2.92015470
13HIF1A_21447827_ChIP-Seq_MCF-7_Human2.91360140
14PPARA_22158963_ChIP-Seq_LIVER_Mouse2.82339840
15FLI1_27457419_Chip-Seq_LIVER_Mouse2.77046841
16PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.76291166
17TRIM28_21343339_ChIP-Seq_HEK293_Human2.73705003
18SOX2_20726797_ChIP-Seq_SW620_Human2.71357153
19FOXO3_23340844_ChIP-Seq_DLD1_Human2.70169472
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.67344009
21LXR_22158963_ChIP-Seq_LIVER_Mouse2.64287372
22ESR1_20079471_ChIP-ChIP_T-47D_Human2.63247358
23ESR1_21235772_ChIP-Seq_MCF-7_Human2.62269148
24PCGF2_27294783_Chip-Seq_ESCs_Mouse2.59599955
25* PPAR_26484153_Chip-Seq_NCI-H1993_Human2.56711722
26P63_26484246_Chip-Seq_KERATINOCYTES_Human2.50255998
27* FOXA2_19822575_ChIP-Seq_HepG2_Human2.47270476
28BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.40345084
29PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.35024884
30RARG_19884340_ChIP-ChIP_MEFs_Mouse2.34720796
31GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.31647061
32FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.16641526
33GATA4_25053715_ChIP-Seq_YYC3_Human2.13548245
34ZFP57_27257070_Chip-Seq_ESCs_Mouse2.12107258
35* TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.10533869
36SOX2_27498859_Chip-Seq_STOMACH_Mouse2.04976982
37PCGF2_27294783_Chip-Seq_NPCs_Mouse2.00904271
38GBX2_23144817_ChIP-Seq_PC3_Human2.00207507
39SUZ12_27294783_Chip-Seq_NPCs_Mouse1.99920215
40VDR_22108803_ChIP-Seq_LS180_Human1.98469695
41NFE2_27457419_Chip-Seq_LIVER_Mouse1.98033732
42EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.95455931
43ZNF217_24962896_ChIP-Seq_MCF-7_Human1.95282975
44FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.88120438
45TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.81194946
46GATA6_25053715_ChIP-Seq_YYC3_Human1.80838449
47CBX2_27304074_Chip-Seq_ESCs_Mouse1.76414251
48CDX2_19796622_ChIP-Seq_MESCs_Mouse1.75383676
49TAL1_26923725_Chip-Seq_HPCs_Mouse1.74015325
50NANOG_18555785_Chip-Seq_ESCs_Mouse1.71853074
51HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.68847230
52KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.67791186
53* HNF4A_19822575_ChIP-Seq_HepG2_Human1.67194871
54EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.67101090
55KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.67046488
56GATA1_26923725_Chip-Seq_HPCs_Mouse1.66594654
57TAF15_26573619_Chip-Seq_HEK293_Human1.63008402
58KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.62379134
59EZH2_27294783_Chip-Seq_NPCs_Mouse1.60541615
60P53_22387025_ChIP-Seq_ESCs_Mouse1.57990214
61SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.57717336
62SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.57717336
63FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.55936886
64CMYC_18555785_Chip-Seq_ESCs_Mouse1.54750972
65STAT1_17558387_ChIP-Seq_HELA_Human1.53933717
66SUZ12_18555785_Chip-Seq_ESCs_Mouse1.53713199
67GATA3_24758297_ChIP-Seq_MCF-7_Human1.51436117
68OCT4_18555785_Chip-Seq_ESCs_Mouse1.49469861
69P300_18555785_Chip-Seq_ESCs_Mouse1.49234923
70TCF4_18268006_ChIP-ChIP_LS174T_Human1.48585099
71STAT3_18555785_Chip-Seq_ESCs_Mouse1.48287334
72EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.47818847
73KDM2B_26808549_Chip-Seq_REH_Human1.47690678
74TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.46229853
75STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.46117465
76PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.45793143
77E2F1_18555785_Chip-Seq_ESCs_Mouse1.44999746
78RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.43836611
79ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.43065235
80CRX_20693478_ChIP-Seq_RETINA_Mouse1.42909409
81* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.42125826
82ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.41421087
83POU3F2_20337985_ChIP-ChIP_501MEL_Human1.41294492
84RNF2_27304074_Chip-Seq_NSC_Mouse1.41197303
85EGR1_23403033_ChIP-Seq_LIVER_Mouse1.41176136
86MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.40473468
87ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.40471945
88CTBP2_25329375_ChIP-Seq_LNCAP_Human1.40195529
89KLF4_18555785_Chip-Seq_ESCs_Mouse1.39303556
90CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.38338533
91CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.37519266
92TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.36490880
93SOX2_18555785_Chip-Seq_ESCs_Mouse1.35971447
94ER_23166858_ChIP-Seq_MCF-7_Human1.35355959
95NMYC_18555785_Chip-Seq_ESCs_Mouse1.34384906
96KAP1_22055183_ChIP-Seq_ESCs_Mouse1.34219971
97TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33742009
98POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.33742009
99PU1_27457419_Chip-Seq_LIVER_Mouse1.33708562
100GF1_26923725_Chip-Seq_HPCs_Mouse1.33314301
101SOX9_24532713_ChIP-Seq_HFSC_Mouse1.32938670
102ZNF274_21170338_ChIP-Seq_K562_Hela1.31270582
103RUNX1_27457419_Chip-Seq_LIVER_Mouse1.30735383
104ESRRB_18555785_Chip-Seq_ESCs_Mouse1.30627750
105FUS_26573619_Chip-Seq_HEK293_Human1.30428659
106RUNX1_27514584_Chip-Seq_MCF-7_Human1.29245620
107ELK4_26923725_Chip-Seq_MESODERM_Mouse1.28697549
108OCT4_21477851_ChIP-Seq_ESCs_Mouse1.26583152
109RACK7_27058665_Chip-Seq_MCF-7_Human1.26296203
110ATF3_27146783_Chip-Seq_COLON_Human1.25641145
111ZFX_18555785_Chip-Seq_ESCs_Mouse1.25502399
112CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.25451767
113CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.25121794
114CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.23950738
115FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.22442462
116SALL4_18804426_ChIP-ChIP_XEN_Mouse1.21931613
117SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.21501128
118TP63_23658742_ChIP-Seq_EP156T_Human1.21240524
119SMAD1_18555785_Chip-Seq_ESCs_Mouse1.21122871
120CBP_20019798_ChIP-Seq_JUKART_Human1.21104355
121IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.21104355
122SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20747689
123WDR5_24793694_ChIP-Seq_LNCAP_Human1.18264796
124CTCF_18555785_Chip-Seq_ESCs_Mouse1.16883226
125REST_21632747_ChIP-Seq_MESCs_Mouse1.15796419
126AHR_22903824_ChIP-Seq_MCF-7_Human1.14542548
127ARNT_22903824_ChIP-Seq_MCF-7_Human1.14267512
128TCF4_23295773_ChIP-Seq_U87_Human1.14162306
129FOXA1_25552417_ChIP-Seq_VCAP_Human1.13841738
130PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.13724724
131* SMAD4_21799915_ChIP-Seq_A2780_Human1.13007696
132TP53_18474530_ChIP-ChIP_U2OS_Human1.12581181
133PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.11410948
134FLI1_21867929_ChIP-Seq_TH2_Mouse1.11275741
135AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.11207204
136THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.10197529
137TP63_22573176_ChIP-Seq_HFKS_Human1.09669096
138NFYB_21822215_ChIP-Seq_K562_Human1.09469315
139SOX9_26525672_Chip-Seq_HEART_Mouse1.08548983
140* KLF5_25053715_ChIP-Seq_YYC3_Human1.07871815
141TBL1_22424771_ChIP-Seq_293T_Human1.07849966
142GF1B_26923725_Chip-Seq_HPCs_Mouse1.07161978
143AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.06767539
144EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.06538606
145CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.03950354
146TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.03930460
147GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.03894166
148SOX2_22085726_ChIP-Seq_NPCs_Mouse1.02573466
149SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.02093509
150CTNNB1_20460455_ChIP-Seq_HCT116_Human1.01682944
151* CJUN_26792858_Chip-Seq_BT549_Human1.01254740
152SMAD3_21741376_ChIP-Seq_EPCs_Human1.00953912
153* RAD21_21589869_ChIP-Seq_MESCs_Mouse1.00945088
154CLOCK_20551151_ChIP-Seq_293T_Human1.00584300
155P300_19829295_ChIP-Seq_ESCs_Human1.00288344
156CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.99973033
157PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.99178699
158CTBP1_25329375_ChIP-Seq_LNCAP_Human0.99136362
159CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99041554
160UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.98300740
161TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.97884758
162GATA3_21867929_ChIP-Seq_CD8_Mouse0.97833185
163MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.96753709
164NRF2_20460467_ChIP-Seq_MEFs_Mouse0.95256632
165NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.95256632
166SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.94560798
167TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.92947370
168* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.92756114
169PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.92060164
170SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.91717221
171FOXM1_26456572_ChIP-Seq_MCF-7_Human0.91322673
172ETV1_20927104_ChIP-Seq_GIST48_Human0.89759894
173PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.85603977
174ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.84395542
175UBF1/2_26484160_Chip-Seq_HMECs_Human0.84242907
176ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.82870827
177CSB_26484114_Chip-Seq_FIBROBLAST_Human0.81673993
178RXR_22108803_ChIP-Seq_LS180_Human0.81350717
179SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.79649507
180GATA2_21666600_ChIP-Seq_HMVEC_Human0.79164508
181TP53_16413492_ChIP-PET_HCT116_Human0.76617318
182CBX2_22325352_ChIP-Seq_293T-Rex_Human0.76605135
183SMAD3_21741376_ChIP-Seq_HESCs_Human0.74700844
184JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.74373188
185PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.73435921
186P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.72727287
187UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.71819298
188AR_21909140_ChIP-Seq_LNCAP_Human0.70051933
189CEBPB_22108803_ChIP-Seq_LS180_Human0.68519256
190EP300_21415370_ChIP-Seq_HL-1_Mouse0.66640784
191MYC_19915707_ChIP-ChIP_AK7_Human0.65139252
192RBPJ_21746931_ChIP-Seq_IB4_Human0.64332239
193SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.62887795
194TCF4_22108803_ChIP-Seq_LS180_Human0.62802252
195GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.62281393
196JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.61103180
197* CTCF_27219007_Chip-Seq_Bcells_Human0.60281711
198SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.60134054
199E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.59902380

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003698_abnormal_male_reproductive5.24280469
2MP0010386_abnormal_urinary_bladder4.95381500
3MP0005367_renal/urinary_system_phenotyp4.81903086
4MP0000516_abnormal_urinary_system4.81903086
5MP0009780_abnormal_chondrocyte_physiolo4.76153161
6MP0001929_abnormal_gametogenesis4.71677183
7MP0002139_abnormal_hepatobiliary_system4.71672909
8MP0008877_abnormal_DNA_methylation4.00283001
9MP0008875_abnormal_xenobiotic_pharmacok3.90554313
10MP0010234_abnormal_vibrissa_follicle3.78308829
11MP0003195_calcinosis3.48113438
12MP0005365_abnormal_bile_salt3.21346311
13MP0005360_urolithiasis3.20350787
14MP0002210_abnormal_sex_determination3.10931448
15MP0002796_impaired_skin_barrier2.80636182
16MP0002161_abnormal_fertility/fecundity2.76012627
17MP0005085_abnormal_gallbladder_physiolo2.64586693
18MP0001756_abnormal_urination2.59980220
19MP0001145_abnormal_male_reproductive2.50144899
20MP0003252_abnormal_bile_duct2.22014182
21MP0000653_abnormal_sex_gland2.21396736
22MP0005670_abnormal_white_adipose2.19778863
23MP0010329_abnormal_lipoprotein_level2.17017533
24MP0001666_abnormal_nutrient_absorption2.09196735
25MP0000534_abnormal_ureter_morphology2.02824594
26MP0005171_absent_coat_pigmentation2.02591331
27MP0005410_abnormal_fertilization14.0523947
28MP0003950_abnormal_plasma_membrane1.87181533
29MP0004264_abnormal_extraembryonic_tissu1.85713019
30MP0003136_yellow_coat_color1.80226880
31MP0002089_abnormal_postnatal_growth/wei1.77769424
32MP0010678_abnormal_skin_adnexa1.68962123
33MP0002160_abnormal_reproductive_system1.66501871
34MP0005332_abnormal_amino_acid1.53148237
35MP0003453_abnormal_keratinocyte_physiol1.53146259
36MP0003868_abnormal_feces_composition1.51708228
37MP0005408_hypopigmentation1.48305248
38MP0005501_abnormal_skin_physiology1.46832232
39MP0003183_abnormal_peptide_metabolism1.46747655
40MP0005409_darkened_coat_color1.45093820
41MP0000920_abnormal_myelination1.43171662
42MP0006292_abnormal_olfactory_placode1.42563221
43MP0000015_abnormal_ear_pigmentation1.42407119
44MP0001984_abnormal_olfaction1.42212027
45MP0002653_abnormal_ependyma_morphology1.37718638
46MP0008058_abnormal_DNA_repair1.36424188
47MP0003122_maternal_imprinting1.31157153
48MP0000003_abnormal_adipose_tissue1.29298604
49MP0004742_abnormal_vestibular_system1.26579610
50MP0009046_muscle_twitch1.24613393
51MP0003646_muscle_fatigue1.23464836
52MP0008057_abnormal_DNA_replication1.21954057
53MP0005646_abnormal_pituitary_gland1.21240656
54MP0005623_abnormal_meninges_morphology1.18823641
55MP0004272_abnormal_basement_membrane1.16070534
56MP0003191_abnormal_cellular_cholesterol1.15173016
57MP0009643_abnormal_urine_homeostasis1.15048698
58MP0000013_abnormal_adipose_tissue1.14615002
59MP0001986_abnormal_taste_sensitivity1.13909134
60MP0004019_abnormal_vitamin_homeostasis1.12341322
61MP0009697_abnormal_copulation1.11518861
62MP0005503_abnormal_tendon_morphology1.10361108
63MP0001216_abnormal_epidermal_layer1.06905578
64MP0008995_early_reproductive_senescence1.06565822
65MP0004782_abnormal_surfactant_physiolog1.02171816
66MP0005389_reproductive_system_phenotype1.01098659
67MP0002118_abnormal_lipid_homeostasis0.98670117
68MP0003638_abnormal_response/metabolism_0.98236725
69MP0004134_abnormal_chest_morphology0.98114898
70MP0000569_abnormal_digit_pigmentation0.96126089
71MP0005551_abnormal_eye_electrophysiolog0.94855346
72MP0002282_abnormal_trachea_morphology0.94845988
73MP0001486_abnormal_startle_reflex0.93723512
74MP0008872_abnormal_physiological_respon0.93077127
75MP0001188_hyperpigmentation0.92771464
76MP0002132_abnormal_respiratory_system0.92438666
77MP0001664_abnormal_digestion0.91154175
78MP0002136_abnormal_kidney_physiology0.88309565
79MP0005647_abnormal_sex_gland0.87447419
80MP0009379_abnormal_foot_pigmentation0.86122689
81MP0005636_abnormal_mineral_homeostasis0.85588679
82MP0002102_abnormal_ear_morphology0.84986014
83MP0005075_abnormal_melanosome_morpholog0.84428874
84MP0003787_abnormal_imprinting0.83823411
85MP0002909_abnormal_adrenal_gland0.83029760
86MP0000566_synostosis0.82382705
87MP0002736_abnormal_nociception_after0.82189373
88MP0002933_joint_inflammation0.79490004
89MP0003941_abnormal_skin_development0.77443821
90MP0001915_intracranial_hemorrhage0.77142997
91MP0005076_abnormal_cell_differentiation0.76210958
92MP0004381_abnormal_hair_follicle0.75995146
93MP0000383_abnormal_hair_follicle0.75845638
94MP0003690_abnormal_glial_cell0.75769562
95MP0001963_abnormal_hearing_physiology0.75725269
96MP0005058_abnormal_lysosome_morphology0.75677054
97MP0010771_integument_phenotype0.74897064
98MP0001324_abnormal_eye_pigmentation0.74020140
99MP0005174_abnormal_tail_pigmentation0.73593146
100MP0005253_abnormal_eye_physiology0.73261921
101MP0000762_abnormal_tongue_morphology0.72869304
102MP0004147_increased_porphyrin_level0.72853523
103MP0005164_abnormal_response_to0.72598065
104MP0004043_abnormal_pH_regulation0.72530025
105MP0002098_abnormal_vibrissa_morphology0.71392371
106MP0000372_irregular_coat_pigmentation0.71182080
107MP0005084_abnormal_gallbladder_morpholo0.70242226
108MP0009278_abnormal_bone_marrow0.69483829
109MP0005023_abnormal_wound_healing0.69026394
110MP0000609_abnormal_liver_physiology0.67604343
111MP0003880_abnormal_central_pattern0.67599953
112MP0002108_abnormal_muscle_morphology0.66992899
113MP0005165_increased_susceptibility_to0.66342362
114MP0004233_abnormal_muscle_weight0.66057672
115MP0003123_paternal_imprinting0.65948673
116MP0005377_hearing/vestibular/ear_phenot0.65871306
117MP0003878_abnormal_ear_physiology0.65871306
118MP0001293_anophthalmia0.64147610
119MP0001529_abnormal_vocalization0.63630961
120MP0001905_abnormal_dopamine_level0.63192708
121MP0002060_abnormal_skin_morphology0.61510107
122MP0003011_delayed_dark_adaptation0.60771081
123MP0001502_abnormal_circadian_rhythm0.60460238
124MP0001340_abnormal_eyelid_morphology0.60285525
125MP0005375_adipose_tissue_phenotype0.59751176
126MP0005451_abnormal_body_composition0.59549393
127MP0000026_abnormal_inner_ear0.59140767
128MP0003879_abnormal_hair_cell0.58559428
129MP0010030_abnormal_orbit_morphology0.57619826
130MP0002272_abnormal_nervous_system0.56364713
131MP0001119_abnormal_female_reproductive0.55160378
132MP0006138_congestive_heart_failure0.53050224
133MP0008569_lethality_at_weaning0.52766072
134MP0002148_abnormal_hypersensitivity_rea0.51829350
135MP0002234_abnormal_pharynx_morphology0.51700979
136MP0005645_abnormal_hypothalamus_physiol0.51599653
137MP0002249_abnormal_larynx_morphology0.51182498
138MP0003315_abnormal_perineum_morphology0.51008470
139MP0003890_abnormal_embryonic-extraembry0.50564688
140MP0008007_abnormal_cellular_replicative0.49945837
141MP0002938_white_spotting0.49194148
142MP0001485_abnormal_pinna_reflex0.48594475
143MP0001270_distended_abdomen0.48242057
144MP0004883_abnormal_blood_vessel0.48172468
145MP0003172_abnormal_lysosome_physiology0.48102965
146MP0004270_analgesia0.47833881
147MP0004885_abnormal_endolymph0.47559869
148MP0009642_abnormal_blood_homeostasis0.47013442
149MP0002735_abnormal_chemical_nociception0.46611725
150MP0000647_abnormal_sebaceous_gland0.46153840
151MP0002971_abnormal_brown_adipose0.45624192
152MP0003634_abnormal_glial_cell0.45333800
153MP0000465_gastrointestinal_hemorrhage0.45165824
154MP0003699_abnormal_female_reproductive0.44807519
155MP0000681_abnormal_thyroid_gland0.44417772
156MP0001765_abnormal_ion_homeostasis0.43718183
157MP0001835_abnormal_antigen_presentation0.43546270
158MP0001764_abnormal_homeostasis0.43310179
159MP0001661_extended_life_span0.42974451
160MP0002229_neurodegeneration0.42866459
161MP0003953_abnormal_hormone_level0.42519651
162MP0002277_abnormal_respiratory_mucosa0.42459170
163MP0000631_abnormal_neuroendocrine_gland0.42189675
164MP0002752_abnormal_somatic_nervous0.42055869
165MP0005083_abnormal_biliary_tract0.42044328
166MP0005391_vision/eye_phenotype0.41863678
167MP0000367_abnormal_coat/_hair0.41720525
168MP0002233_abnormal_nose_morphology0.41342259
169MP0004142_abnormal_muscle_tone0.41105431
170MP0006082_CNS_inflammation0.41031077
171MP0003045_fibrosis0.40610799
172MP0005666_abnormal_adipose_tissue0.40450955
173MP0010094_abnormal_chromosome_stability0.40265203
174MP0003786_premature_aging0.40130389
175MP0002876_abnormal_thyroid_physiology0.39747934
176MP0004133_heterotaxia0.39290162
177MP0005397_hematopoietic_system_phenotyp0.38708161
178MP0001545_abnormal_hematopoietic_system0.38708161
179MP0003115_abnormal_respiratory_system0.37801106
180MP0002067_abnormal_sensory_capabilities0.37441274
181MP0009250_abnormal_appendicular_skeleto0.37427740
182MP0003631_nervous_system_phenotype0.37159522
183MP0003632_abnormal_nervous_system0.36978779
184MP0002419_abnormal_innate_immunity0.36686102
185MP0009785_altered_susceptibility_to0.36505217
186MP0004510_myositis0.36376415

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)8.57723525
2Abnormal respiratory motile cilium morphology (HP:0005938)8.10792096
3Abnormal respiratory epithelium morphology (HP:0012253)8.10792096
4Deep venous thrombosis (HP:0002625)7.15299542
5Abnormal ciliary motility (HP:0012262)6.99591410
6Rhinitis (HP:0012384)6.59813336
7Chronic bronchitis (HP:0004469)5.99281464
8Infertility (HP:0000789)5.49166647
9Nasal polyposis (HP:0100582)4.67638185
10Abnormality of aromatic amino acid family metabolism (HP:0004338)4.61434698
11Prolonged partial thromboplastin time (HP:0003645)4.39698534
12Nephronophthisis (HP:0000090)4.30919860
13Bronchiectasis (HP:0002110)3.82857307
14Focal segmental glomerulosclerosis (HP:0000097)3.67925413
15Abnormality of the nasal mucosa (HP:0000433)3.65157929
16Bronchitis (HP:0012387)3.59859144
17Alacrima (HP:0000522)3.56465717
18Glomerulosclerosis (HP:0000096)3.45331689
19Abnormality of the renal medulla (HP:0100957)3.45198928
20Hypobetalipoproteinemia (HP:0003563)3.40659416
21Vascular calcification (HP:0004934)3.39098807
22Hemorrhage of the eye (HP:0011885)3.32185075
23Aplasia involving bones of the upper limbs (HP:0009823)3.20510452
24Aplasia of the phalanges of the hand (HP:0009802)3.20510452
25Aplasia involving bones of the extremities (HP:0009825)3.20510452
26Conjugated hyperbilirubinemia (HP:0002908)3.16474625
27Tubulointerstitial nephritis (HP:0001970)3.15481660
28Abnormality of the common coagulation pathway (HP:0010990)3.15195137
29Acanthocytosis (HP:0001927)3.14394020
30Abnormality of monocarboxylic acid metabolism (HP:0010996)3.12290703
31Popliteal pterygium (HP:0009756)3.07046928
32Facial shape deformation (HP:0011334)3.05830439
33Potter facies (HP:0002009)3.05830439
34Male infertility (HP:0003251)3.04914403
35Joint hemorrhage (HP:0005261)3.02322525
36Abnormality of the salivary glands (HP:0010286)3.01659266
37Complement deficiency (HP:0004431)3.01630454
38Nasolacrimal duct obstruction (HP:0000579)2.98654622
39Widely patent fontanelles and sutures (HP:0004492)2.93220587
40Medial flaring of the eyebrow (HP:0010747)2.92205812
41Abnormal spermatogenesis (HP:0008669)2.92050302
42Cardiovascular calcification (HP:0011915)2.88481529
43Abnormality of midbrain morphology (HP:0002418)2.87784545
44Molar tooth sign on MRI (HP:0002419)2.87784545
45Hypercholesterolemia (HP:0003124)2.86700120
46Recurrent sinusitis (HP:0011108)2.85789716
47Decreased lacrimation (HP:0000633)2.83208592
48Abnormality of secondary sexual hair (HP:0009888)2.76755482
49Abnormality of the axillary hair (HP:0100134)2.76755482
50Lip pit (HP:0100267)2.76622980
51Palmoplantar hyperkeratosis (HP:0000972)2.76437156
52Recurrent otitis media (HP:0000403)2.74237560
53Pterygium (HP:0001059)2.71448235
54Palmar hyperkeratosis (HP:0010765)2.64857003
55Hyperkalemia (HP:0002153)2.64118693
56Plantar hyperkeratosis (HP:0007556)2.63083504
57Abnormality of the lacrimal duct (HP:0011481)2.59303829
58Neonatal death (HP:0003811)2.58975005
59Increased purine levels (HP:0004368)2.55354683
60Hyperuricemia (HP:0002149)2.55354683
61Intrahepatic cholestasis (HP:0001406)2.54111523
62Seborrheic dermatitis (HP:0001051)2.53350306
63Xerostomia (HP:0000217)2.52718892
64Parakeratosis (HP:0001036)2.52686547
65Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.46931582
66Coronal craniosynostosis (HP:0004440)2.42391356
67Abnormality of purine metabolism (HP:0004352)2.40552487
68Xanthomatosis (HP:0000991)2.39956039
69Congenital ichthyosiform erythroderma (HP:0007431)2.37435496
70Hypolipoproteinemia (HP:0010981)2.37054863
71Hyperactive renin-angiotensin system (HP:0000841)2.35931681
72Abnormality of the lumbar spine (HP:0100712)2.35166926
73Dyschromatopsia (HP:0007641)2.34286956
74Flat acetabular roof (HP:0003180)2.32991622
75Fat malabsorption (HP:0002630)2.31825149
76Postaxial foot polydactyly (HP:0001830)2.31154702
77Broad alveolar ridges (HP:0000187)2.29798712
78Hypophosphatemic rickets (HP:0004912)2.27123411
79Breast hypoplasia (HP:0003187)2.25200301
80Abnormality of the nasolacrimal system (HP:0000614)2.24991689
81Blue irides (HP:0000635)2.24665366
82Recurrent corneal erosions (HP:0000495)2.23731935
83Neonatal short-limb short stature (HP:0008921)2.23649608
84Bifid scrotum (HP:0000048)2.22428859
85Gonadal dysgenesis (HP:0000133)2.22259893
86Abnormality of carpal bone ossification (HP:0006257)2.21650789
87Hypotension (HP:0002615)2.21569841
88Tubular atrophy (HP:0000092)2.20781210
89Tubulointerstitial abnormality (HP:0001969)2.20334655
90Abnormality of the renal cortex (HP:0011035)2.19813889
91Arterial tortuosity (HP:0005116)2.16832892
92Bell-shaped thorax (HP:0001591)2.12875034
93Corneal erosion (HP:0200020)2.09347541
94Abnormality of complement system (HP:0005339)2.08726871
95Small epiphyses (HP:0010585)2.07451295
96Abnormal tarsal ossification (HP:0008369)2.07254156
97Epiphyseal dysplasia (HP:0002656)2.06817061
98Fragile nails (HP:0001808)2.05519781
99Abnormal drinking behavior (HP:0030082)2.05167103
100Polydipsia (HP:0001959)2.05167103
101True hermaphroditism (HP:0010459)2.04571611
102Spontaneous abortion (HP:0005268)2.03990177
103Impulsivity (HP:0100710)2.03924432
104Glomerulonephritis (HP:0000099)2.02876710
105Ectopic kidney (HP:0000086)2.01770105
106Hypoplasia of the capital femoral epiphysis (HP:0003090)2.01113851
107Shawl scrotum (HP:0000049)2.00294511
108Recurrent bronchitis (HP:0002837)2.00244265
109Respiratory insufficiency due to defective ciliary clearance (HP:0200073)12.1980300
110Absent/shortened dynein arms (HP:0200106)11.7672930
111Dynein arm defect of respiratory motile cilia (HP:0012255)11.7672930
112Congenital hepatic fibrosis (HP:0002612)1.99604326
113Chronic hepatic failure (HP:0100626)1.98881565
114Alopecia of scalp (HP:0002293)1.98634907
115Abnormal biliary tract physiology (HP:0012439)1.98232051
116Bile duct proliferation (HP:0001408)1.98232051
117Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.98211952
118Absent epiphyses (HP:0010577)1.98211952
119Conical tooth (HP:0000698)1.97798693
120Fibular hypoplasia (HP:0003038)1.97349405
121Erythroderma (HP:0001019)1.96822898
122Decreased central vision (HP:0007663)1.96755239
123Pancreatic fibrosis (HP:0100732)1.95998151
124Acanthosis nigricans (HP:0000956)1.94658304
125Wide cranial sutures (HP:0010537)1.94285064
126Abnormality of the vitreous humor (HP:0004327)1.94211045
127Abnormality of molar morphology (HP:0011070)1.94175544
128Abnormality of molar (HP:0011077)1.94175544
129Azoospermia (HP:0000027)1.92734552
130Choroideremia (HP:0001139)1.92652509
131Abnormality of the gastric mucosa (HP:0004295)1.91813125
132Right ventricular cardiomyopathy (HP:0011663)1.91771309
133Limited elbow extension (HP:0001377)1.91173922
134Abnormality of permanent molar morphology (HP:0011071)1.89171348
135Abnormality of the dental root (HP:0006486)1.89171348
136Taurodontia (HP:0000679)1.89171348
137Gait imbalance (HP:0002141)1.89031105
138Congenital primary aphakia (HP:0007707)1.88473679
139Woolly hair (HP:0002224)1.87707635
140Partial duplication of thumb phalanx (HP:0009944)1.87087865
141Optic neuritis (HP:0100653)1.86656668
142Retrobulbar optic neuritis (HP:0100654)1.86656668
143Abnormality of the nasal septum (HP:0000419)1.86633836
144Stage 5 chronic kidney disease (HP:0003774)1.86212191
145Pigmentary retinal degeneration (HP:0001146)1.85779981
146Degeneration of the lateral corticospinal tracts (HP:0002314)1.83274236
147Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.83274236
148Abnormality of proline metabolism (HP:0010907)1.83030812
149Hydroxyprolinuria (HP:0003080)1.83030812
150Aplasia/Hypoplasia of the lens (HP:0008063)1.80965426
151Gonadotropin excess (HP:0000837)1.80270089
152Chromosomal breakage induced by crosslinking agents (HP:0003221)1.80208852
153Nephrogenic diabetes insipidus (HP:0009806)1.75446327
154Short femoral neck (HP:0100864)1.74396799
155Abnormality of the dental pulp (HP:0006479)1.73038643
156Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.67258089
157J-shaped sella turcica (HP:0002680)1.65398144
158Renal dysplasia (HP:0000110)1.63979302
159Postaxial hand polydactyly (HP:0001162)1.63772813
160Sensory axonal neuropathy (HP:0003390)1.63027554
161Nephropathy (HP:0000112)1.62465656
162Optic nerve hypoplasia (HP:0000609)1.62263924
163Abnormality of renal excretion (HP:0011036)1.59959502
164Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.59154086
165Spastic tetraparesis (HP:0001285)1.56701515
166Vaginal atresia (HP:0000148)1.50189285
167Median cleft lip (HP:0000161)1.49066592
168Facial cleft (HP:0002006)1.48268946
169Astigmatism (HP:0000483)1.47611105
170Absent frontal sinuses (HP:0002688)1.45695930
171Genital tract atresia (HP:0001827)1.45367375
172Cystic liver disease (HP:0006706)1.45166132
173Poor coordination (HP:0002370)1.44261842
174Oculomotor apraxia (HP:0000657)1.42909377
175Occipital encephalocele (HP:0002085)1.42235007
176Pancreatic cysts (HP:0001737)1.41444060
177Duplicated collecting system (HP:0000081)1.40988876
178Aplasia/Hypoplasia of the tongue (HP:0010295)1.40091816
179Short thorax (HP:0010306)1.39969318
180Type 2 muscle fiber atrophy (HP:0003554)1.39115900
181Chromsome breakage (HP:0040012)1.38714166
182Tubulointerstitial fibrosis (HP:0005576)1.38608836
183Abnormality of the renal collecting system (HP:0004742)1.38475162
184Chronic sinusitis (HP:0011109)1.35378125
185Abnormality of incisor morphology (HP:0011063)1.35190296
186Short ribs (HP:0000773)1.34017287
187White forelock (HP:0002211)1.33190592
188Impaired proprioception (HP:0010831)1.33039038
189Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.31585727

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA26.46667247
2PDK46.44689179
3PDK36.44689179
4MST1R6.06719671
5PDK24.37828188
6TESK14.12524743
7ICK3.90068927
8PRKD33.57907286
9STK393.36171661
10FGFR33.28519602
11MET3.21315954
12PRPF4B2.62563793
13WNK42.11145838
14DDR22.06605406
15PTK2B1.94639681
16IRAK31.93033890
17FGFR11.86827525
18MUSK1.83058468
19TNIK1.81434327
20TYRO31.75357439
21EIF2AK11.72865834
22GRK51.69870929
23MAPKAPK31.67164665
24CDK81.67134961
25FGFR41.64382841
26IRAK11.63201939
27NEK61.59732302
28MAP3K121.51775677
29OXSR11.49838025
30RIPK11.45306647
31SIK11.42076196
32WNK11.40990709
33TIE11.34128535
34MAP3K21.33856960
35CASK1.33694589
36TGFBR11.33588919
37LATS21.29215373
38PDGFRA1.27037769
39STK31.22993166
40ZAK1.21967781
41MAP3K91.19868459
42STK38L1.19592920
43NUAK11.19540767
44PINK11.16514030
45PNCK1.13908794
46MAPK151.09713340
47CCNB11.03826494
48MST41.03626258
49PTK21.03312537
50NME21.02593745
51EIF2AK31.00716236
52IRAK20.99142147
53YES10.98456738
54TXK0.98320761
55STK380.97664315
56EPHB10.96766547
57LMTK20.96728581
58EPHB20.96427409
59PKN10.96341021
60PDK10.96078555
61PTK60.95194796
62NME10.94178575
63MAP3K70.93883323
64STK160.93401759
65BMPR1B0.92372382
66PIK3CA0.92294135
67TGFBR20.90833184
68INSRR0.86615992
69CLK10.83303954
70TAOK10.80737887
71BMPR20.80406795
72BRD40.80302581
73DYRK1B0.79648184
74BCR0.79141689
75NTRK30.78423174
76GRK10.76832369
77RPS6KB20.74201531
78MAP3K140.74041331
79CDK120.73811950
80MAP2K10.72088076
81LATS10.71458050
82FER0.71136334
83NEK20.70947415
84FGR0.70776035
85CDK30.70107280
86MAP3K30.69439661
87PHKG10.69121712
88PHKG20.69121712
89BMX0.66709564
90CDK90.65330985
91PBK0.65178696
92ERBB20.64529398
93PDGFRB0.63550751
94FRK0.63441859
95CDK190.62131197
96TTK0.60064657
97ADRBK20.57038027
98PASK0.56587292
99RIPK40.56240556
100MATK0.55973473
101PDPK10.54992009
102PAK40.54480844
103ARAF0.53155979
104MAP3K130.50003314
105MAPK70.48346408
106ERN10.47726514
107MAP2K70.45404467
108PLK40.44670966
109PRKAA20.44367786
110EIF2AK20.44186096
111IRAK40.43818570
112IKBKB0.43260551
113ATR0.43183826
114CHEK20.41608891
115PRKCQ0.39744917
116MAPK130.38971750
117NLK0.37938697
118ERBB30.37931309
119PRKCG0.37683001
120IGF1R0.37401540
121BRSK20.36985793
122CSNK1E0.36927119
123MKNK20.35134862
124STK240.35078782
125MARK30.33959270
126NEK90.33770021
127MYLK0.32850588
128RPS6KB10.32682520
129OBSCN0.32555655
130TEC0.31511849
131TRPM70.30687574
132AKT30.29817933
133GRK70.29659334
134ATM0.29637714
135CHEK10.28468500
136SGK2230.27296602
137SGK4940.27296602
138PRKG10.26530544
139MINK10.26016218
140LRRK20.25782622
141NEK10.25675062
142SGK20.25487676
143PRKG20.24402273
144CAMK2A0.24171190
145PRKCE0.23873407
146MARK20.23725830
147EPHA40.23495960
148CSNK1D0.22808875
149MELK0.20530034
150BTK0.19575929
151PRKAA10.19219408
152DYRK30.18417310
153CDC42BPA0.17852034
154PRKACB0.17323884
155SRC0.16874218
156CSK0.15707781
157MAPKAPK50.15292689
158MAP2K60.14807869
159BRAF0.14681281
160GSK3B0.12796022
161NTRK20.12302392
162CAMK2B0.12242643
163PRKCD0.11841226
164CAMKK10.10850165
165MAPK80.10363574
166CSF1R0.10336649
167TNK20.10144002
168FGFR20.09645937

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007504.59296532
2Ascorbate and aldarate metabolism_Homo sapiens_hsa000534.17580292
3Basal transcription factors_Homo sapiens_hsa030223.37972031
4Pentose and glucuronate interconversions_Homo sapiens_hsa000403.23049243
5Fatty acid biosynthesis_Homo sapiens_hsa000613.16240845
6alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.99946700
7Linoleic acid metabolism_Homo sapiens_hsa005912.96242608
8Fanconi anemia pathway_Homo sapiens_hsa034602.90436780
9Complement and coagulation cascades_Homo sapiens_hsa046102.87247328
10Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.81078287
11Ether lipid metabolism_Homo sapiens_hsa005652.67013786
12Chemical carcinogenesis_Homo sapiens_hsa052042.59988430
13Fat digestion and absorption_Homo sapiens_hsa049752.43028066
14Starch and sucrose metabolism_Homo sapiens_hsa005002.29935095
15Retinol metabolism_Homo sapiens_hsa008302.25848874
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.24400289
17Histidine metabolism_Homo sapiens_hsa003402.14944981
18Drug metabolism - other enzymes_Homo sapiens_hsa009832.12942508
19Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007602.10920390
20Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.06933046
21Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.94101005
22Primary bile acid biosynthesis_Homo sapiens_hsa001201.88778638
23Cyanoamino acid metabolism_Homo sapiens_hsa004601.84423614
24Sphingolipid metabolism_Homo sapiens_hsa006001.82307755
25Phenylalanine metabolism_Homo sapiens_hsa003601.75268097
26Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.67813394
27Arachidonic acid metabolism_Homo sapiens_hsa005901.66395729
28Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.57496536
29Autoimmune thyroid disease_Homo sapiens_hsa053201.49698301
30Arginine biosynthesis_Homo sapiens_hsa002201.48728192
31Rheumatoid arthritis_Homo sapiens_hsa053231.46902977
32Propanoate metabolism_Homo sapiens_hsa006401.46519111
33Collecting duct acid secretion_Homo sapiens_hsa049661.43592142
34Glycerophospholipid metabolism_Homo sapiens_hsa005641.40587017
35Tyrosine metabolism_Homo sapiens_hsa003501.39164846
36Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.34406923
37Steroid biosynthesis_Homo sapiens_hsa001001.32522159
38Glucagon signaling pathway_Homo sapiens_hsa049221.32126820
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.30537140
40Circadian rhythm_Homo sapiens_hsa047101.30350039
41Fatty acid degradation_Homo sapiens_hsa000711.30183632
42Glycosaminoglycan degradation_Homo sapiens_hsa005311.28656848
43Dorso-ventral axis formation_Homo sapiens_hsa043201.26609932
44Mineral absorption_Homo sapiens_hsa049781.26082390
45Pyruvate metabolism_Homo sapiens_hsa006201.24247010
46Purine metabolism_Homo sapiens_hsa002301.23204329
47Bile secretion_Homo sapiens_hsa049761.17833690
48Carbohydrate digestion and absorption_Homo sapiens_hsa049731.16067498
49Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.13496086
50Glycerolipid metabolism_Homo sapiens_hsa005611.13156792
51Maturity onset diabetes of the young_Homo sapiens_hsa049501.12547289
52Butanoate metabolism_Homo sapiens_hsa006501.11925271
53Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.11259658
54Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.07817905
552-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.05585931
56Homologous recombination_Homo sapiens_hsa034401.02793735
57Caffeine metabolism_Homo sapiens_hsa002321.00329990
58Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.98286407
59Nitrogen metabolism_Homo sapiens_hsa009100.97526711
60Inositol phosphate metabolism_Homo sapiens_hsa005620.96546917
61Arginine and proline metabolism_Homo sapiens_hsa003300.96377955
62Amphetamine addiction_Homo sapiens_hsa050310.95543415
63Peroxisome_Homo sapiens_hsa041460.94781537
64Renin-angiotensin system_Homo sapiens_hsa046140.94288066
65Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.93136788
66Renin secretion_Homo sapiens_hsa049240.90515367
67Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.89945767
68Graft-versus-host disease_Homo sapiens_hsa053320.86633623
69Malaria_Homo sapiens_hsa051440.86423379
70NF-kappa B signaling pathway_Homo sapiens_hsa040640.85627487
71Taste transduction_Homo sapiens_hsa047420.85600137
72Measles_Homo sapiens_hsa051620.84755878
73Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.84088726
74Fructose and mannose metabolism_Homo sapiens_hsa000510.83507154
75Oocyte meiosis_Homo sapiens_hsa041140.83281636
76Phosphatidylinositol signaling system_Homo sapiens_hsa040700.82151302
77Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.80851484
78Fatty acid elongation_Homo sapiens_hsa000620.80197732
79Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.78884512
80Pentose phosphate pathway_Homo sapiens_hsa000300.78438086
81Allograft rejection_Homo sapiens_hsa053300.76779484
82SNARE interactions in vesicular transport_Homo sapiens_hsa041300.76218636
83Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.75982245
84Calcium signaling pathway_Homo sapiens_hsa040200.75687331
85PPAR signaling pathway_Homo sapiens_hsa033200.75308352
86Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.75214034
87Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.75121139
88Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.73978581
89Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.71404421
90Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.71133112
91Huntingtons disease_Homo sapiens_hsa050160.70695374
92Non-homologous end-joining_Homo sapiens_hsa034500.70399509
93ABC transporters_Homo sapiens_hsa020100.69323043
94Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.68844492
95Hedgehog signaling pathway_Homo sapiens_hsa043400.68566428
96Intestinal immune network for IgA production_Homo sapiens_hsa046720.67724261
97Selenocompound metabolism_Homo sapiens_hsa004500.66421670
98Legionellosis_Homo sapiens_hsa051340.66403533
99N-Glycan biosynthesis_Homo sapiens_hsa005100.66193224
100Galactose metabolism_Homo sapiens_hsa000520.65674664
101ECM-receptor interaction_Homo sapiens_hsa045120.62462507
102Nicotine addiction_Homo sapiens_hsa050330.62214179
103Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.61072471
104Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.60184925
105Thyroid hormone synthesis_Homo sapiens_hsa049180.59319431
106Bladder cancer_Homo sapiens_hsa052190.59229771
107mRNA surveillance pathway_Homo sapiens_hsa030150.56708060
108Tryptophan metabolism_Homo sapiens_hsa003800.56400154
109beta-Alanine metabolism_Homo sapiens_hsa004100.56292191
110Morphine addiction_Homo sapiens_hsa050320.56288762
111Protein digestion and absorption_Homo sapiens_hsa049740.55628691
112Glutamatergic synapse_Homo sapiens_hsa047240.55504214
113Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.53525117
114Axon guidance_Homo sapiens_hsa043600.53293544
115Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.53127742
116Other glycan degradation_Homo sapiens_hsa005110.52958126
117Ovarian steroidogenesis_Homo sapiens_hsa049130.52898534
118Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.52526243
119Glutathione metabolism_Homo sapiens_hsa004800.50967279
120Phagosome_Homo sapiens_hsa041450.49800824
121B cell receptor signaling pathway_Homo sapiens_hsa046620.48425740
122Sulfur metabolism_Homo sapiens_hsa009200.48265939
123T cell receptor signaling pathway_Homo sapiens_hsa046600.46928074
124cGMP-PKG signaling pathway_Homo sapiens_hsa040220.46745505
125Antigen processing and presentation_Homo sapiens_hsa046120.46303047
126Vitamin digestion and absorption_Homo sapiens_hsa049770.45984547
127Biosynthesis of amino acids_Homo sapiens_hsa012300.45397648
128Circadian entrainment_Homo sapiens_hsa047130.44840619
129Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.44631716
130Vascular smooth muscle contraction_Homo sapiens_hsa042700.44027845
131Steroid hormone biosynthesis_Homo sapiens_hsa001400.43234247
132Salivary secretion_Homo sapiens_hsa049700.42792070
133Fatty acid metabolism_Homo sapiens_hsa012120.42002953
134Folate biosynthesis_Homo sapiens_hsa007900.40770111
135Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.40410796
136Asthma_Homo sapiens_hsa053100.40226026
137cAMP signaling pathway_Homo sapiens_hsa040240.39895422
138Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.38607026
139Insulin secretion_Homo sapiens_hsa049110.37946646
140Metabolic pathways_Homo sapiens_hsa011000.37860481
141Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.37379186
142NOD-like receptor signaling pathway_Homo sapiens_hsa046210.37144584
143Olfactory transduction_Homo sapiens_hsa047400.36638304
144Hematopoietic cell lineage_Homo sapiens_hsa046400.35601754
145Pancreatic secretion_Homo sapiens_hsa049720.35549887
146RNA degradation_Homo sapiens_hsa030180.33843404
147Jak-STAT signaling pathway_Homo sapiens_hsa046300.33364858
148Phototransduction_Homo sapiens_hsa047440.33174357
149Adherens junction_Homo sapiens_hsa045200.33152508
150Herpes simplex infection_Homo sapiens_hsa051680.32429064
151Insulin signaling pathway_Homo sapiens_hsa049100.32064435
152Insulin resistance_Homo sapiens_hsa049310.31252359
153Cysteine and methionine metabolism_Homo sapiens_hsa002700.31098958
154Carbon metabolism_Homo sapiens_hsa012000.29087688
155Sulfur relay system_Homo sapiens_hsa041220.27547609
156Tight junction_Homo sapiens_hsa045300.25005976
157Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.23768079
158Adipocytokine signaling pathway_Homo sapiens_hsa049200.23322383
159AMPK signaling pathway_Homo sapiens_hsa041520.13230603

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