PKD1L1

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 member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1meiotic chromosome segregation (GO:0045132)6.85207326
2negative regulation of cytosolic calcium ion concentration (GO:0051481)6.30249952
3sphingosine metabolic process (GO:0006670)6.23009356
4sphingoid metabolic process (GO:0046519)5.94911431
5diol metabolic process (GO:0034311)5.50504020
6neuron cell-cell adhesion (GO:0007158)5.40600954
7detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)5.31604381
8positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.55563306
9embryonic retina morphogenesis in camera-type eye (GO:0060059)4.49613331
10piRNA metabolic process (GO:0034587)4.48983880
11microtubule depolymerization (GO:0007019)4.46905251
12embryonic viscerocranium morphogenesis (GO:0048703)4.46321196
13presynaptic membrane assembly (GO:0097105)4.45603709
14protein-chromophore linkage (GO:0018298)4.30272723
15regulation of skeletal muscle contraction (GO:0014819)4.29265023
16oligosaccharide catabolic process (GO:0009313)4.26249089
17regulation of DNA damage checkpoint (GO:2000001)4.23139536
18regulation of sarcomere organization (GO:0060297)4.16866130
19regulation of non-canonical Wnt signaling pathway (GO:2000050)4.07350617
20outflow tract septum morphogenesis (GO:0003148)4.03829590
21primitive streak formation (GO:0090009)3.99525762
22negative regulation of cAMP-mediated signaling (GO:0043951)3.99226700
23myofibril assembly (GO:0030239)3.97943120
24behavioral response to ethanol (GO:0048149)3.93379477
25postsynaptic membrane organization (GO:0001941)3.91323979
26detection of mechanical stimulus involved in sensory perception (GO:0050974)3.88494500
27negative regulation of homotypic cell-cell adhesion (GO:0034111)3.84525868
28sarcomere organization (GO:0045214)3.80757944
29post-anal tail morphogenesis (GO:0036342)3.79529307
30sarcoplasmic reticulum calcium ion transport (GO:0070296)3.78244314
31regulation of protein glycosylation (GO:0060049)3.75194350
32L-alpha-amino acid transmembrane transport (GO:1902475)3.73901758
33notochord development (GO:0030903)3.71552483
34cardiac myofibril assembly (GO:0055003)3.70474774
35opioid receptor signaling pathway (GO:0038003)3.67559449
36muscle filament sliding (GO:0030049)3.65853772
37actin-myosin filament sliding (GO:0033275)3.65853772
38righting reflex (GO:0060013)3.61360430
39fatty acid transmembrane transport (GO:1902001)3.61336252
40DNA strand renaturation (GO:0000733)3.61130506
41response to UV-C (GO:0010225)3.55930871
42carnitine shuttle (GO:0006853)3.55796832
43* detection of mechanical stimulus (GO:0050982)3.54664157
44regulation of acrosome reaction (GO:0060046)3.52503882
45regulation of timing of cell differentiation (GO:0048505)3.48086835
46positive regulation of oligodendrocyte differentiation (GO:0048714)3.44512886
47DNA methylation involved in gamete generation (GO:0043046)3.42035733
48lens fiber cell differentiation (GO:0070306)3.41084473
49kinetochore organization (GO:0051383)3.40939686
50signal transduction involved in regulation of gene expression (GO:0023019)3.37281497
51reflex (GO:0060004)3.35356234
52regulation of male gonad development (GO:2000018)3.34996913
53auditory receptor cell stereocilium organization (GO:0060088)3.33483774
54negative regulation of DNA-dependent DNA replication (GO:2000104)3.33091811
55vocalization behavior (GO:0071625)3.31597863
56indole-containing compound catabolic process (GO:0042436)3.31348117
57indolalkylamine catabolic process (GO:0046218)3.31348117
58tryptophan catabolic process (GO:0006569)3.31348117
59nonmotile primary cilium assembly (GO:0035058)3.30762439
60regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.29344564
61regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.28785423
62kynurenine metabolic process (GO:0070189)3.26457558
63neurotransmitter-gated ion channel clustering (GO:0072578)3.24837325
64presynaptic membrane organization (GO:0097090)3.24524557
65response to caffeine (GO:0031000)3.24225675
66skeletal muscle adaptation (GO:0043501)3.23982921
67neuronal action potential (GO:0019228)3.21964149
68cell migration involved in gastrulation (GO:0042074)3.21272763
69kinetochore assembly (GO:0051382)3.20583978
70regulation of development, heterochronic (GO:0040034)3.18265063
71fusion of sperm to egg plasma membrane (GO:0007342)3.13468943
72positive regulation of cAMP-mediated signaling (GO:0043950)3.13294264
73regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.12122734
74dicarboxylic acid biosynthetic process (GO:0043650)3.08826191
75lens development in camera-type eye (GO:0002088)3.08377788
76negative regulation of complement activation (GO:0045916)3.07699497
77adult feeding behavior (GO:0008343)3.07212538
78arginine catabolic process (GO:0006527)3.04244727
79positive regulation of male gonad development (GO:2000020)3.02992436
80regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.01595496
81negative regulation of nitric oxide biosynthetic process (GO:0045019)3.01542625
82amino-acid betaine transport (GO:0015838)3.01227910
83carnitine transport (GO:0015879)3.01227910
84cell proliferation in forebrain (GO:0021846)3.00478758
85actin-mediated cell contraction (GO:0070252)2.99697470
86phospholipid homeostasis (GO:0055091)2.96536649
87blood coagulation, intrinsic pathway (GO:0007597)2.96296948
88head development (GO:0060322)2.95543071
89regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.94676442
90positive regulation of cell size (GO:0045793)2.92978733
91positive regulation of immune response to tumor cell (GO:0002839)2.91590195
92regulation of immune response to tumor cell (GO:0002837)2.91590195
93regulation of response to tumor cell (GO:0002834)2.91590195
94positive regulation of response to tumor cell (GO:0002836)2.91590195
95ether lipid metabolic process (GO:0046485)2.84614243
96growth hormone receptor signaling pathway (GO:0060396)2.84076245
97actomyosin structure organization (GO:0031032)2.83337454
98somite rostral/caudal axis specification (GO:0032525)2.82590439
99negative regulation of protein activation cascade (GO:2000258)2.81734405
100negative regulation of astrocyte differentiation (GO:0048712)2.80763356
101regulation of G2/M transition of mitotic cell cycle (GO:0010389)2.80724356
102cellular response to vitamin D (GO:0071305)2.79796012
103carnitine transmembrane transport (GO:1902603)2.79636659
104regulation of platelet aggregation (GO:0090330)2.79579368
105adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.79320339
106positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.79046474
107insulin-like growth factor receptor signaling pathway (GO:0048009)2.78879080
108inner ear receptor cell development (GO:0060119)2.78695954
109negative regulation of platelet activation (GO:0010544)2.77098053
110purine ribonucleotide transport (GO:0015868)2.76249758
111cell fate commitment involved in formation of primary germ layer (GO:0060795)2.76084434
112lymphangiogenesis (GO:0001946)2.76019469
113cellular ketone body metabolic process (GO:0046950)2.74895236
114regulation of interleukin-5 production (GO:0032674)2.74417841
115negative regulation of glycoprotein biosynthetic process (GO:0010561)2.74404398
116creatine metabolic process (GO:0006600)2.73115994
117regulation of meiosis I (GO:0060631)2.72937981
118complement activation, alternative pathway (GO:0006957)2.70905634
119regulation of pigment cell differentiation (GO:0050932)2.70554398
120mesenchymal cell development (GO:0014031)2.70183708
121artery development (GO:0060840)2.69397096
122establishment of protein localization to Golgi (GO:0072600)2.69140438
123membrane depolarization during action potential (GO:0086010)2.69023368
124response to epinephrine (GO:0071871)2.69022304
125striated muscle atrophy (GO:0014891)2.68273228
126bone morphogenesis (GO:0060349)2.67809606
127indolalkylamine metabolic process (GO:0006586)2.65528836
128acrosome reaction (GO:0007340)2.65418155
129dicarboxylic acid catabolic process (GO:0043649)2.65121126
130male meiosis I (GO:0007141)2.64981464
131negative regulation of cell-matrix adhesion (GO:0001953)2.64954371
132plasma membrane fusion (GO:0045026)2.64613777
133regulation of cell cycle G2/M phase transition (GO:1902749)2.64064595
134phosphate ion transmembrane transport (GO:0035435)2.62124421
135myotube cell development (GO:0014904)2.61842776
136tachykinin receptor signaling pathway (GO:0007217)2.60463360
137phospholipid efflux (GO:0033700)2.60041577
138regulation of glucocorticoid metabolic process (GO:0031943)2.59687333
139reciprocal meiotic recombination (GO:0007131)2.58951301
140reciprocal DNA recombination (GO:0035825)2.58951301
141retina layer formation (GO:0010842)2.58201745
142striated muscle contraction (GO:0006941)2.57857391
143response to muscle activity (GO:0014850)2.57816827
144positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.57238978
145atrial cardiac muscle cell action potential (GO:0086014)2.57162758
146regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.56017502
147attachment of spindle microtubules to kinetochore (GO:0008608)2.55389189
148neural crest cell development (GO:0014032)2.55238902
149positive regulation of neurological system process (GO:0031646)2.54327141
150modulation by symbiont of host cellular process (GO:0044068)2.53839274
151oxidative demethylation (GO:0070989)2.53439416
152positive regulation of developmental pigmentation (GO:0048087)2.51890390
153bundle of His cell to Purkinje myocyte communication (GO:0086069)2.51821537
154regulation of establishment or maintenance of cell polarity (GO:0032878)2.50650382
155ketone body metabolic process (GO:1902224)2.50318280
156regulation of complement activation (GO:0030449)2.50061001
157regulation of mesoderm development (GO:2000380)2.49390436
158tryptophan metabolic process (GO:0006568)2.48801175
159regulation of sequestering of triglyceride (GO:0010889)2.48376911
160maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.48073304
161negative regulation of retinoic acid receptor signaling pathway (GO:0048387)2.46805655
162muscle atrophy (GO:0014889)2.46430318
163microtubule polymerization or depolymerization (GO:0031109)2.46113104
164linoleic acid metabolic process (GO:0043651)2.45426421
165positive regulation of smoothened signaling pathway (GO:0045880)2.44788178
166response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.44678170
167regulation of establishment of cell polarity (GO:2000114)2.44649164
168skeletal muscle fiber development (GO:0048741)2.43548905
169histone H2B ubiquitination (GO:0033523)2.43388117
170G-protein coupled receptor internalization (GO:0002031)2.43142537
171snRNA transcription (GO:0009301)2.42926579
172regulation of protein activation cascade (GO:2000257)2.42695079
173syncytium formation (GO:0006949)2.42358591
174olfactory bulb development (GO:0021772)2.41962574
175DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.41323079
176regulation of receptor internalization (GO:0002090)2.40671024
177positive regulation of gastrulation (GO:2000543)2.39973782
178regulation of cell-cell adhesion mediated by cadherin (GO:2000047)2.39930246
179modulation by virus of host process (GO:0019054)2.39794122
180flavonoid metabolic process (GO:0009812)2.39326957
181phospholipid translocation (GO:0045332)2.39013261
182lipid translocation (GO:0034204)2.39013261
183triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.38505410
184type B pancreatic cell development (GO:0003323)2.38435982
185appendage development (GO:0048736)2.38114902
186limb development (GO:0060173)2.38114902
187aromatic amino acid family catabolic process (GO:0009074)2.38113211
188positive regulation of cellular amide metabolic process (GO:0034250)2.38021468
189meiotic cell cycle process (GO:1903046)2.37502928
190regulation of chromatin binding (GO:0035561)2.37315759
191macroautophagy (GO:0016236)2.36631216
192establishment of integrated proviral latency (GO:0075713)2.35930017
193calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.34609548
194gonadal mesoderm development (GO:0007506)13.5721607

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RBPJ_22232070_ChIP-Seq_NCS_Mouse4.76371911
2EZH2_22144423_ChIP-Seq_EOC_Human3.89016102
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.83714676
4GBX2_23144817_ChIP-Seq_PC3_Human3.74689936
5FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.51814286
6FOXM1_23109430_ChIP-Seq_U2OS_Human3.11311126
7ESR1_20079471_ChIP-ChIP_T-47D_Human3.00227378
8PCGF2_27294783_Chip-Seq_ESCs_Mouse2.78480998
9SALL1_21062744_ChIP-ChIP_HESCs_Human2.77232270
10PCGF2_27294783_Chip-Seq_NPCs_Mouse2.61877535
11CBX2_27304074_Chip-Seq_ESCs_Mouse2.44798072
12FLI1_27457419_Chip-Seq_LIVER_Mouse2.40100097
13ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.37066031
14RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.37006803
15ZFP57_27257070_Chip-Seq_ESCs_Mouse2.12405789
16SUZ12_27294783_Chip-Seq_NPCs_Mouse2.08577783
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.06509661
18TP63_19390658_ChIP-ChIP_HaCaT_Human2.05555595
19NFE2_27457419_Chip-Seq_LIVER_Mouse2.03665198
20BMI1_23680149_ChIP-Seq_NPCS_Mouse1.98414557
21VDR_22108803_ChIP-Seq_LS180_Human1.98070535
22FUS_26573619_Chip-Seq_HEK293_Human1.92795739
23CDX2_19796622_ChIP-Seq_MESCs_Mouse1.86519563
24RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.82833414
25BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.80710741
26EGR1_23403033_ChIP-Seq_LIVER_Mouse1.80156495
27AR_21572438_ChIP-Seq_LNCaP_Human1.79723443
28JARID2_20064375_ChIP-Seq_MESCs_Mouse1.79247511
29EED_16625203_ChIP-ChIP_MESCs_Mouse1.76969561
30PIAS1_25552417_ChIP-Seq_VCAP_Human1.75957792
31EZH2_27294783_Chip-Seq_NPCs_Mouse1.74518286
32NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.72703246
33ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.69613107
34SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.68946408
35EZH2_27304074_Chip-Seq_ESCs_Mouse1.65750649
36GATA1_26923725_Chip-Seq_HPCs_Mouse1.65663678
37EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.65077486
38CTBP2_25329375_ChIP-Seq_LNCAP_Human1.64940962
39ZNF217_24962896_ChIP-Seq_MCF-7_Human1.64413821
40AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.60481838
41EWS_26573619_Chip-Seq_HEK293_Human1.58304668
42EP300_21415370_ChIP-Seq_HL-1_Mouse1.57774505
43POU5F1_16153702_ChIP-ChIP_HESCs_Human1.57334981
44TAF15_26573619_Chip-Seq_HEK293_Human1.57107059
45LXR_22158963_ChIP-Seq_LIVER_Mouse1.56158997
46IGF1R_20145208_ChIP-Seq_DFB_Human1.53341841
47STAT3_23295773_ChIP-Seq_U87_Human1.51736295
48POU3F2_20337985_ChIP-ChIP_501MEL_Human1.49657054
49EZH2_18974828_ChIP-Seq_MESCs_Mouse1.49393713
50RNF2_18974828_ChIP-Seq_MESCs_Mouse1.49393713
51SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.49187739
52GATA2_21666600_ChIP-Seq_HMVEC_Human1.48037208
53SOX2_16153702_ChIP-ChIP_HESCs_Human1.47552958
54RNF2_27304074_Chip-Seq_NSC_Mouse1.47016329
55ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.46204589
56TP53_16413492_ChIP-PET_HCT116_Human1.45695254
57TAL1_26923725_Chip-Seq_HPCs_Mouse1.45253746
58SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.43935451
59CJUN_26792858_Chip-Seq_BT549_Human1.43831738
60HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.43682316
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.43071265
62CTBP1_25329375_ChIP-Seq_LNCAP_Human1.42856608
63TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.41959555
64ER_23166858_ChIP-Seq_MCF-7_Human1.40151049
65SUZ12_18555785_Chip-Seq_ESCs_Mouse1.39976512
66E2F1_18555785_Chip-Seq_ESCs_Mouse1.39913534
67TP53_18474530_ChIP-ChIP_U2OS_Human1.38747217
68BCAT_22108803_ChIP-Seq_LS180_Human1.36815511
69EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.35180276
70P53_22387025_ChIP-Seq_ESCs_Mouse1.34041661
71RXR_22108803_ChIP-Seq_LS180_Human1.32112365
72STAT3_18555785_Chip-Seq_ESCs_Mouse1.31763783
73NMYC_18555785_Chip-Seq_ESCs_Mouse1.31401949
74BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.31118481
75CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.30832305
76TCF4_18268006_ChIP-ChIP_LS174T_Human1.30557793
77P300_18555785_Chip-Seq_ESCs_Mouse1.30247156
78MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.30053060
79NANOG_18555785_Chip-Seq_ESCs_Mouse1.29243047
80SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.28775626
81ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.28694223
82EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.28299799
83ZNF274_21170338_ChIP-Seq_K562_Hela1.28076386
84SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.25574907
85POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.24912390
86TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24912390
87CRX_20693478_ChIP-Seq_RETINA_Mouse1.24603932
88SMAD4_21799915_ChIP-Seq_A2780_Human1.24413983
89SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.24231079
90TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.23920756
91TBX20_22328084_ChIP-Seq_HEART_Mouse1.23737727
92TBX20_22080862_ChIP-Seq_HEART_Mouse1.23737727
93CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.23198586
94* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.22904946
95IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.22056928
96CBP_20019798_ChIP-Seq_JUKART_Human1.22056928
97ZFX_18555785_Chip-Seq_ESCs_Mouse1.19506697
98AHR_22903824_ChIP-Seq_MCF-7_Human1.18953756
99CMYC_18555785_Chip-Seq_ESCs_Mouse1.18414270
100SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.17230449
101JARID2_20075857_ChIP-Seq_MESCs_Mouse1.16170137
102EZH2_27294783_Chip-Seq_ESCs_Mouse1.15776642
103CDX2_22108803_ChIP-Seq_LS180_Human1.15117757
104TP63_23658742_ChIP-Seq_EP156T_Human1.15100025
105E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.14922307
106UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.14407567
107FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.14103734
108OCT4_18555785_Chip-Seq_ESCs_Mouse1.14102423
109SMAD3_21741376_ChIP-Seq_HESCs_Human1.13995768
110MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.13122316
111SOX2_18555785_Chip-Seq_ESCs_Mouse1.12706852
112* FOXA2_19822575_ChIP-Seq_HepG2_Human1.12554274
113RUNX1_27457419_Chip-Seq_LIVER_Mouse1.12230925
114NANOG_19829295_ChIP-Seq_ESCs_Human1.12185181
115SOX2_19829295_ChIP-Seq_ESCs_Human1.12185181
116RXR_22158963_ChIP-Seq_LIVER_Mouse1.11467355
117ARNT_22903824_ChIP-Seq_MCF-7_Human1.11321561
118NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.11041317
119SMAD3_21741376_ChIP-Seq_EPCs_Human1.10995195
120MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.10758825
121ESR2_21235772_ChIP-Seq_MCF-7_Human1.10340878
122TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.10259996
123AR_25329375_ChIP-Seq_VCAP_Human1.10144271
124ESRRB_18555785_Chip-Seq_ESCs_Mouse1.09663889
125SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.09116922
126LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.08726980
127* TCF4_23295773_ChIP-Seq_U87_Human1.08553572
128* SOX2_21211035_ChIP-Seq_LN229_Gbm1.08286802
129SMAD1_18555785_Chip-Seq_ESCs_Mouse1.07782472
130RUNX1_26923725_Chip-Seq_HPCs_Mouse1.07648365
131RNF2_27304074_Chip-Seq_ESCs_Mouse1.07465831
132KAP1_22055183_ChIP-Seq_ESCs_Mouse1.06620036
133DROSHA_22980978_ChIP-Seq_HELA_Human1.06175986
134OCT1_27270436_Chip-Seq_PROSTATE_Human1.05979076
135* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.05261664
136KLF4_18555785_Chip-Seq_ESCs_Mouse1.04799820
137PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.04583264
138* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.04246409
139CTCF_18555785_Chip-Seq_ESCs_Mouse1.03901002
140P300_19829295_ChIP-Seq_ESCs_Human1.03710285
141PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.03490785
142PU1_27457419_Chip-Seq_LIVER_Mouse1.03486675
143NFYA_21822215_ChIP-Seq_K562_Human1.02624569
144YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02543509
145GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.02486838
146FLI1_21867929_ChIP-Seq_TH2_Mouse1.02161781
147TBL1_22424771_ChIP-Seq_293T_Human1.01404235
148PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.00932736
149SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.00869184
150SMAD4_21741376_ChIP-Seq_HESCs_Human1.00727860
151SMAD4_21741376_ChIP-Seq_EPCs_Human1.00644247
152OCT4_20526341_ChIP-Seq_ESCs_Human0.99949330
153OCT4_21477851_ChIP-Seq_ESCs_Mouse0.99744898
154SOX9_24532713_ChIP-Seq_HFSC_Mouse0.99405506
155* AR_19668381_ChIP-Seq_PC3_Human0.99103592
156SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.98767655
157PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.98316261
158NRF2_20460467_ChIP-Seq_MEFs_Mouse0.98253890
159NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.98253890
160MTF2_20144788_ChIP-Seq_MESCs_Mouse0.97976160
161PPAR_26484153_Chip-Seq_NCI-H1993_Human0.97670935
162STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.96941098
163FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.96521983
164GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.96068475
165NFYB_21822215_ChIP-Seq_K562_Human0.95854678
166PPARA_22158963_ChIP-Seq_LIVER_Mouse0.95354805

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue5.61492596
2MP0002009_preneoplasia5.57214023
3MP0005670_abnormal_white_adipose4.10613543
4MP0002138_abnormal_hepatobiliary_system3.96679421
5MP0003890_abnormal_embryonic-extraembry3.79182409
6MP0001188_hyperpigmentation3.63583095
7MP0000749_muscle_degeneration3.56668110
8MP0002102_abnormal_ear_morphology3.51117612
9MP0002837_dystrophic_cardiac_calcinosis3.35636593
10MP0009379_abnormal_foot_pigmentation3.29339164
11MP0004233_abnormal_muscle_weight3.25748566
12MP0010368_abnormal_lymphatic_system3.19225486
13MP0003950_abnormal_plasma_membrane3.11332148
14MP0000751_myopathy3.09046787
15MP0005623_abnormal_meninges_morphology3.02419989
16MP0003045_fibrosis2.98604870
17MP0000537_abnormal_urethra_morphology2.91069516
18MP0003941_abnormal_skin_development2.68065199
19MP0004036_abnormal_muscle_relaxation2.66805083
20MP0005645_abnormal_hypothalamus_physiol2.66803823
21MP0003011_delayed_dark_adaptation2.61504394
22MP0004130_abnormal_muscle_cell2.57806973
23MP0006072_abnormal_retinal_apoptosis2.51318286
24MP0004084_abnormal_cardiac_muscle2.40522254
25MP0002697_abnormal_eye_size2.35669015
26MP0002877_abnormal_melanocyte_morpholog2.34318655
27MP0004145_abnormal_muscle_electrophysio2.24652863
28MP0003879_abnormal_hair_cell2.21050235
29MP0003693_abnormal_embryo_hatching2.19554951
30MP0003195_calcinosis2.18760920
31MP0004858_abnormal_nervous_system2.15741537
32MP0002876_abnormal_thyroid_physiology2.12795264
33MP0000678_abnormal_parathyroid_gland2.12655687
34MP0000566_synostosis2.04049150
35MP0010030_abnormal_orbit_morphology2.03996050
36MP0002332_abnormal_exercise_endurance2.02296770
37MP0003315_abnormal_perineum_morphology1.96131093
38MP0009780_abnormal_chondrocyte_physiolo1.85303586
39MP0005085_abnormal_gallbladder_physiolo1.82341071
40MP0004742_abnormal_vestibular_system1.81818373
41MP0003111_abnormal_nucleus_morphology1.80003674
42MP0005330_cardiomyopathy1.79893130
43MP0002269_muscular_atrophy1.76631802
44MP0003119_abnormal_digestive_system1.73979544
45MP0005451_abnormal_body_composition1.65391783
46MP0003136_yellow_coat_color1.65335380
47MP0000579_abnormal_nail_morphology1.65188221
48MP0004087_abnormal_muscle_fiber1.61605497
49MP0005167_abnormal_blood-brain_barrier1.61164598
50MP0005410_abnormal_fertilization1.60181689
51MP0005253_abnormal_eye_physiology1.59776960
52MP0002168_other_aberrant_phenotype1.57367494
53MP0005620_abnormal_muscle_contractility1.56798309
54MP0001486_abnormal_startle_reflex1.56500676
55MP0000733_abnormal_muscle_development1.55574000
56MP0003191_abnormal_cellular_cholesterol1.55422086
57MP0000747_muscle_weakness1.55219222
58MP0002106_abnormal_muscle_physiology1.54804570
59MP0004484_altered_response_of1.51946604
60MP0000490_abnormal_crypts_of1.51659606
61MP0006292_abnormal_olfactory_placode1.49909658
62MP0000538_abnormal_urinary_bladder1.49736750
63MP0010094_abnormal_chromosome_stability1.49468528
64MP0004510_myositis1.46381563
65MP0009697_abnormal_copulation1.45604478
66MP0001529_abnormal_vocalization1.42849158
67MP0008877_abnormal_DNA_methylation1.42532831
68MP0001879_abnormal_lymphatic_vessel1.42274272
69MP0005369_muscle_phenotype1.41841735
70MP0000462_abnormal_digestive_system1.40266818
71MP0005379_endocrine/exocrine_gland_phen1.37212522
72MP0000569_abnormal_digit_pigmentation1.35328429
73MP0002163_abnormal_gland_morphology1.34560858
74MP0005171_absent_coat_pigmentation1.33905931
75MP0000759_abnormal_skeletal_muscle1.31509066
76MP0002653_abnormal_ependyma_morphology1.30063438
77MP0002736_abnormal_nociception_after1.26549088
78MP0002971_abnormal_brown_adipose1.25830406
79MP0002972_abnormal_cardiac_muscle1.24525683
80MP0009278_abnormal_bone_marrow1.23433720
81MP0005666_abnormal_adipose_tissue1.22655916
82MP0002210_abnormal_sex_determination1.20841794
83MP0003787_abnormal_imprinting1.20609593
84MP0003283_abnormal_digestive_organ1.20007114
85MP0002254_reproductive_system_inflammat1.19753588
86MP0006138_congestive_heart_failure1.19364732
87MP0003300_gastrointestinal_ulcer1.17617279
88MP0008789_abnormal_olfactory_epithelium1.17339108
89MP0002108_abnormal_muscle_morphology1.17009975
90MP0001286_abnormal_eye_development1.15176527
91MP0008058_abnormal_DNA_repair1.14848425
92MP0003183_abnormal_peptide_metabolism1.14598097
93MP0005391_vision/eye_phenotype1.14532434
94MP0009115_abnormal_fat_cell1.14120553
95MP0004215_abnormal_myocardial_fiber1.13815682
96MP0005266_abnormal_metabolism1.12130388
97MP0003959_abnormal_lean_body1.11330452
98MP0001501_abnormal_sleep_pattern1.10504313
99MP0000750_abnormal_muscle_regeneration1.07656028
100MP0002092_abnormal_eye_morphology1.07620688
101MP0000026_abnormal_inner_ear1.07371174
102MP0009384_cardiac_valve_regurgitation1.07319257
103MP0001984_abnormal_olfaction1.06723061
104MP0002233_abnormal_nose_morphology1.06224025
105MP0004272_abnormal_basement_membrane1.05169393
106MP0002735_abnormal_chemical_nociception1.04406889
107MP0005375_adipose_tissue_phenotype1.03621667
108MP0001968_abnormal_touch/_nociception1.03419016
109MP0004264_abnormal_extraembryonic_tissu1.03316257
110MP0005360_urolithiasis1.01098353
111MP0000428_abnormal_craniofacial_morphol0.99890748
112MP0003868_abnormal_feces_composition0.99468956
113MP0005503_abnormal_tendon_morphology0.99139329
114MP0001346_abnormal_lacrimal_gland0.98890175
115MP0001929_abnormal_gametogenesis0.98863452
116MP0001145_abnormal_male_reproductive0.98009879
117MP0003828_pulmonary_edema0.96193346
118MP0003077_abnormal_cell_cycle0.95162475
119MP0005385_cardiovascular_system_phenoty0.95106645
120MP0001544_abnormal_cardiovascular_syste0.95106645
121MP0000383_abnormal_hair_follicle0.94398354
122MP0003123_paternal_imprinting0.94143159
123MP0003115_abnormal_respiratory_system0.94133865
124MP0001293_anophthalmia0.93599821
125MP0005365_abnormal_bile_salt0.93326132
126MP0005394_taste/olfaction_phenotype0.93160859
127MP0005499_abnormal_olfactory_system0.93160859
128MP0010329_abnormal_lipoprotein_level0.93047399
129MP0010630_abnormal_cardiac_muscle0.92220635
130MP0000762_abnormal_tongue_morphology0.92134538
131MP0002006_tumorigenesis0.91449772
132MP0008007_abnormal_cellular_replicative0.90106513
133MP0002234_abnormal_pharynx_morphology0.87024066
134MP0002166_altered_tumor_susceptibility0.86695331
135MP0004133_heterotaxia0.85450922
136MP0003252_abnormal_bile_duct0.84119077
137MP0008057_abnormal_DNA_replication0.84091367
138MP0005334_abnormal_fat_pad0.82395289
139MP0003861_abnormal_nervous_system0.82355973
140MP0003566_abnormal_cell_adhesion0.82328403
141MP0002084_abnormal_developmental_patter0.82005508
142MP0000049_abnormal_middle_ear0.81630864
143MP0000767_abnormal_smooth_muscle0.81354946
144MP0003705_abnormal_hypodermis_morpholog0.80815349
145MP0004085_abnormal_heartbeat0.80650578
146MP0002111_abnormal_tail_morphology0.80620164
147MP0000653_abnormal_sex_gland0.79995638
148MP0003937_abnormal_limbs/digits/tail_de0.79425926
149MP0001485_abnormal_pinna_reflex0.78950154
150MP0000432_abnormal_head_morphology0.78916211
151MP0006054_spinal_hemorrhage0.77627160
152MP0002085_abnormal_embryonic_tissue0.76987417
153MP0000230_abnormal_systemic_arterial0.76965326
154MP0000372_irregular_coat_pigmentation0.76952970
155MP0000015_abnormal_ear_pigmentation0.75402127
156MP0002118_abnormal_lipid_homeostasis0.74334019
157MP0001986_abnormal_taste_sensitivity0.74067107
158MP0009250_abnormal_appendicular_skeleto0.73812442
159MP0008775_abnormal_heart_ventricle0.73694783
160MP0002127_abnormal_cardiovascular_syste0.73473030
161MP0005395_other_phenotype0.73418947
162MP0008932_abnormal_embryonic_tissue0.72799214
163MP0002557_abnormal_social/conspecific_i0.72762248
164MP0002177_abnormal_outer_ear0.72643064
165MP0002693_abnormal_pancreas_physiology0.72451974
166MP0000003_abnormal_adipose_tissue0.72116360
167MP0002932_abnormal_joint_morphology0.71008262
168MP0002752_abnormal_somatic_nervous0.70369216
169MP0002249_abnormal_larynx_morphology0.70345004
170MP0001270_distended_abdomen0.69933081
171MP0001963_abnormal_hearing_physiology0.69873809
172MP0001661_extended_life_span0.69800451
173MP0004957_abnormal_blastocyst_morpholog0.69711421
174MP0001545_abnormal_hematopoietic_system0.68264808
175MP0005397_hematopoietic_system_phenotyp0.68264808
176MP0003137_abnormal_impulse_conducting0.68189185
177MP0009764_decreased_sensitivity_to0.66668291
178MP0005058_abnormal_lysosome_morphology0.65089973
179MP0005165_increased_susceptibility_to0.64361322
180MP0005310_abnormal_salivary_gland0.64024906
181MP0008874_decreased_physiological_sensi0.63212418
182MP0005551_abnormal_eye_electrophysiolog0.61535083
183MP0003633_abnormal_nervous_system0.60167030
184MP0000427_abnormal_hair_cycle0.59639550
185MP0003279_aneurysm0.58627652
186MP0004381_abnormal_hair_follicle0.57939667
187MP0005647_abnormal_sex_gland0.56081603
188MP0001664_abnormal_digestion0.54990648

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)5.88546466
2Nuclear cataract (HP:0100018)5.87003059
3Muscle fiber inclusion bodies (HP:0100299)5.84917189
4Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.83721074
5Prostate neoplasm (HP:0100787)5.54292461
6Zonular cataract (HP:0010920)5.19438483
7Chromosomal breakage induced by crosslinking agents (HP:0003221)4.69095742
8Gonadotropin excess (HP:0000837)4.56511516
9Exercise-induced myalgia (HP:0003738)4.49185500
10Testicular atrophy (HP:0000029)4.46792925
11Type 1 muscle fiber predominance (HP:0003803)4.30004260
12Asymmetric septal hypertrophy (HP:0001670)4.19297881
13Chromsome breakage (HP:0040012)4.14034179
14Hyporeflexia of lower limbs (HP:0002600)4.13933298
15Bundle branch block (HP:0011710)4.04172423
16Congenital sensorineural hearing impairment (HP:0008527)4.03053760
17Erectile abnormalities (HP:0100639)3.91471814
18Thyroid-stimulating hormone excess (HP:0002925)3.77653718
19Amelogenesis imperfecta (HP:0000705)3.74337450
20Abnormality of monocarboxylic acid metabolism (HP:0010996)3.71380956
21Muscle fiber splitting (HP:0003555)3.62427459
22Areflexia of lower limbs (HP:0002522)3.48956817
23Unilateral renal agenesis (HP:0000122)3.41230222
24Sudden death (HP:0001699)3.38104594
25Menstrual irregularities (HP:0000858)3.35751132
26Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.32159612
27Abnormality of the calf musculature (HP:0001430)3.22698972
28Abnormality of secondary sexual hair (HP:0009888)3.21953266
29Abnormality of the axillary hair (HP:0100134)3.21953266
30Exercise-induced muscle cramps (HP:0003710)3.18047106
31Upper limb muscle weakness (HP:0003484)3.11499466
32Deep venous thrombosis (HP:0002625)3.10041563
33Generalized aminoaciduria (HP:0002909)3.04861522
34Esophageal varix (HP:0002040)3.04691121
35Increased neuronal autofluorescent lipopigment (HP:0002074)3.04234054
36Abnormality of chromosome stability (HP:0003220)3.02844386
37Hyperkalemia (HP:0002153)3.01728211
38Osteomalacia (HP:0002749)3.01244125
39EMG: myopathic abnormalities (HP:0003458)2.96088922
40Difficulty walking (HP:0002355)2.95752168
41Menorrhagia (HP:0000132)2.90159125
42Fetal akinesia sequence (HP:0001989)2.88273842
43Dysmetric saccades (HP:0000641)2.82006310
44Increased cerebral lipofuscin (HP:0011813)2.81730913
45Prolonged partial thromboplastin time (HP:0003645)2.80659648
46Portal hypertension (HP:0001409)2.80505758
47Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.79203727
48Increased connective tissue (HP:0009025)2.78770763
49Focal motor seizures (HP:0011153)2.78138897
50Facial diplegia (HP:0001349)2.77908360
51Heart block (HP:0012722)2.77366273
52Ventricular tachycardia (HP:0004756)2.77123327
53Abnormality of the hepatic vasculature (HP:0006707)2.73299143
54Symptomatic seizures (HP:0011145)2.68380504
55Aplasia/Hypoplasia of the fovea (HP:0008060)2.67656878
56Hypoplasia of the fovea (HP:0007750)2.67656878
57Rhabdomyolysis (HP:0003201)2.65267278
58Distal lower limb muscle weakness (HP:0009053)2.64002089
59Cortical dysplasia (HP:0002539)2.62574882
60Abnormality of the preputium (HP:0100587)2.61873863
61Anosmia (HP:0000458)2.61177579
62Abnormal atrioventricular conduction (HP:0005150)2.61139698
63Heterotopia (HP:0002282)2.59347011
64Central scotoma (HP:0000603)2.59186114
65Myoglobinuria (HP:0002913)2.58737857
66Meckel diverticulum (HP:0002245)2.58073498
67Facial cleft (HP:0002006)2.57765027
68Dilated cardiomyopathy (HP:0001644)2.57747332
69Lipoatrophy (HP:0100578)2.57115296
70Syncope (HP:0001279)2.55755870
71Subaortic stenosis (HP:0001682)2.53928192
72Abnormality of the left ventricular outflow tract (HP:0011103)2.53928192
73Myopathic facies (HP:0002058)2.53292180
74Ileus (HP:0002595)2.52403477
75Aplasia/Hypoplasia of the uvula (HP:0010293)2.49462972
76Abnormality of the ileum (HP:0001549)2.47026131
77Abnormal ventriculo-arterial connection (HP:0011563)2.46524127
78Transposition of the great arteries (HP:0001669)2.46524127
79Abnormal connection of the cardiac segments (HP:0011545)2.46524127
80Febrile seizures (HP:0002373)2.44447834
81Distal arthrogryposis (HP:0005684)2.44418065
82Mesomelia (HP:0003027)2.43644507
83Abnormal number of incisors (HP:0011064)2.43405655
84Abnormality of glycolipid metabolism (HP:0010969)2.41852958
85Abnormality of liposaccharide metabolism (HP:0010968)2.41852958
86Abnormality of glycosphingolipid metabolism (HP:0004343)2.41852958
87Hydroxyprolinuria (HP:0003080)2.38474910
88Abnormality of proline metabolism (HP:0010907)2.38474910
89Neck muscle weakness (HP:0000467)2.38144998
90Hyperinsulinemic hypoglycemia (HP:0000825)2.37759048
91Resting tremor (HP:0002322)2.36128897
92Gaze-evoked nystagmus (HP:0000640)2.36019551
93Fair hair (HP:0002286)2.33154390
94Akinesia (HP:0002304)2.31990329
95Wrist flexion contracture (HP:0001239)2.31515037
96Absent hair (HP:0002298)2.29482459
97Hematochezia (HP:0002573)2.27261060
98Atrioventricular block (HP:0001678)2.26601013
99Difficulty running (HP:0009046)2.26552135
100Abnormality of potassium homeostasis (HP:0011042)2.25668604
101Abnormality of chromosome segregation (HP:0002916)2.25621699
102Azoospermia (HP:0000027)2.23298116
103Abnormality of calcium-phosphate metabolism (HP:0100530)2.22102361
104Recurrent corneal erosions (HP:0000495)2.21587349
105Clumsiness (HP:0002312)2.20853431
106Breast aplasia (HP:0100783)2.20785356
107Scapular winging (HP:0003691)2.20683995
108Abnormality of the intrinsic pathway (HP:0010989)2.19856967
109Centrally nucleated skeletal muscle fibers (HP:0003687)2.19427403
110Anterior segment dysgenesis (HP:0007700)2.19284988
111Abnormality of skeletal muscle fiber size (HP:0012084)2.19002852
112Pancreatic islet-cell hyperplasia (HP:0004510)2.18945522
113Complement deficiency (HP:0004431)2.18838632
114Hypoglycemic seizures (HP:0002173)2.18279491
115Muscular dystrophy (HP:0003560)2.17601472
116EMG: neuropathic changes (HP:0003445)2.16539191
117Abnormality of the fovea (HP:0000493)2.16166200
118Renal duplication (HP:0000075)2.13753615
119Round ear (HP:0100830)2.13495813
120Conjunctival telangiectasia (HP:0000524)2.11294280
121Increased variability in muscle fiber diameter (HP:0003557)2.10028352
122Premature skin wrinkling (HP:0100678)2.09471542
123Hypoplastic ischia (HP:0003175)2.09378889
124Spontaneous hematomas (HP:0007420)2.08947195
125Abnormality of the prostate (HP:0008775)2.06067408
126Atrial fibrillation (HP:0005110)2.05614914
127Hemorrhage of the eye (HP:0011885)2.04714577
128Premature rupture of membranes (HP:0001788)2.04435571
129Hypoglycemic coma (HP:0001325)2.00855532
130Tetany (HP:0001281)2.00845824
131Oligomenorrhea (HP:0000876)2.00282650
132Dialeptic seizures (HP:0011146)1.99468331
133Congenital cataract (HP:0000519)1.99082697
134Abnormality of pyrimidine metabolism (HP:0004353)1.99011379
135Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.98200324
136Calf muscle hypertrophy (HP:0008981)1.97999839
137Bony spicule pigmentary retinopathy (HP:0007737)1.97532031
138Congenital, generalized hypertrichosis (HP:0004540)1.97261637
139Preauricular pit (HP:0004467)1.97130667
140Periauricular skin pits (HP:0100277)1.97130667
141Scotoma (HP:0000575)1.96944775
142Steppage gait (HP:0003376)1.95970118
143Peripheral demyelination (HP:0011096)1.95489084
144Abnormality of the carotid arteries (HP:0005344)1.95117337
145Generalized hypopigmentation of hair (HP:0011358)1.94361977
146Mask-like facies (HP:0000298)1.94334863
147Abnormality of nucleobase metabolism (HP:0010932)1.93554234
148Poikilocytosis (HP:0004447)1.92826664
149Aplasia/Hypoplasia of the breasts (HP:0010311)1.92759683
150Spastic diplegia (HP:0001264)1.92715787
151Pigmentary retinal degeneration (HP:0001146)1.92712633
152Facial hemangioma (HP:0000329)1.92648829
153Abnormality of purine metabolism (HP:0004352)1.91053043
154Ectopic anus (HP:0004397)1.90939423
155Anal stenosis (HP:0002025)1.90932156
156Abnormality of DNA repair (HP:0003254)1.90812978
157Insulin-resistant diabetes mellitus (HP:0000831)1.90121585
158Postural instability (HP:0002172)1.89207330
159Right ventricular cardiomyopathy (HP:0011663)1.88673160
160Hypokalemia (HP:0002900)1.87139935
161Late onset (HP:0003584)1.85783219
162Pendular nystagmus (HP:0012043)1.85516928
163Truncal obesity (HP:0001956)1.85446881
164Frequent falls (HP:0002359)1.85403756
165Anal atresia (HP:0002023)1.85173218
166Gynecomastia (HP:0000771)1.84477849
167Acanthocytosis (HP:0001927)1.82862910
168Rimmed vacuoles (HP:0003805)1.81550923
169Glomerulonephritis (HP:0000099)1.81550573
170Corneal dystrophy (HP:0001131)1.80381878
171Malignant hyperthermia (HP:0002047)1.79873999
172Preaxial foot polydactyly (HP:0001841)1.79800162
173Abnormality of the ischium (HP:0003174)1.79732909
174Primary atrial arrhythmia (HP:0001692)1.79635879
175Septo-optic dysplasia (HP:0100842)1.79434574
176Toxemia of pregnancy (HP:0100603)1.78733738
177Congenital ichthyosiform erythroderma (HP:0007431)1.78695127
178Attenuation of retinal blood vessels (HP:0007843)1.78590176
179Action tremor (HP:0002345)1.78445267
180Triphalangeal thumb (HP:0001199)1.77365249
181Muscle hypertrophy of the lower extremities (HP:0008968)1.76710997
182Primary amenorrhea (HP:0000786)1.74816003
183Duplication of thumb phalanx (HP:0009942)1.74203530
184Distal lower limb amyotrophy (HP:0008944)1.74179696
185Abnormality of the labia minora (HP:0012880)1.73721865
186Aplasia/Hypoplasia of the macula (HP:0008059)1.72881571
187Missing ribs (HP:0000921)1.72772775
188Maternal diabetes (HP:0009800)1.71412088
189Hydroureter (HP:0000072)1.71405915
190Ulnar claw (HP:0001178)1.69346565
191Selective tooth agenesis (HP:0001592)1.69277853
192Large for gestational age (HP:0001520)1.68824133
193Bifid tongue (HP:0010297)1.68004977
194Abnormal spermatogenesis (HP:0008669)1.66276751
195Neonatal death (HP:0003811)1.64521336
196Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.64229810

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN4.70426274
2STK38L3.63393958
3TAOK13.36577842
4TNK23.26523321
5ERBB33.15397773
6CDC73.02216408
7TIE12.77908813
8LATS12.71741968
9BLK2.53304093
10ERBB42.48299994
11SCYL22.46042021
12TTN2.45524536
13EPHA22.45191131
14ACVR1B2.37462793
15PIK3CG2.36025218
16NEK22.33462950
17PDGFRA2.21413448
18NTRK32.12601963
19NEK92.09686622
20PINK12.07193631
21BCR2.03315666
22EIF2AK21.99304671
23CDK61.95445392
24CASK1.95393155
25NTRK11.89718384
26CDK91.86906882
27FLT31.79721658
28LATS21.72525259
29PASK1.71119282
30PRKAA21.66087685
31FER1.61854047
32NEK61.60066246
33TRPM71.57670736
34TLK11.56910835
35PNCK1.51354863
36ICK1.50401559
37PAK31.48148158
38IRAK31.41346441
39STK381.38828277
40LMTK21.35743660
41BMPR1B1.35046895
42MAP3K71.33525944
43CHEK21.31733860
44TTK1.27389131
45MET1.25160944
46MAPK151.24006405
47MELK1.23432872
48NUAK11.21975722
49DDR21.21037173
50MAP3K41.20091367
51WNK31.19426756
52ADRBK11.18593758
53CDK41.17722011
54STK31.12346790
55EIF2AK31.09918635
56TGFBR11.05682441
57NLK1.04290423
58INSRR1.02026330
59MAP3K131.00778535
60PTK60.98981170
61MYLK0.98427348
62SGK10.97936474
63PDPK10.94848120
64CDK70.93120710
65WNK10.92432431
66TGFBR20.92216531
67STK240.89038895
68CDK120.87353129
69PLK10.85681433
70AURKB0.83926121
71PHKG10.83894909
72PHKG20.83894909
73PTK2B0.82046925
74PDGFRB0.82009255
75MOS0.80644102
76MAPK110.79767405
77KSR20.77769117
78AURKA0.76994939
79ALK0.73492037
80ERN10.72866248
81VRK10.71756324
82KDR0.70758417
83CDK30.70502152
84STK110.70410041
85PKN10.70336761
86CAMK1D0.69510784
87DYRK30.69386517
88MAP2K20.68367186
89DMPK0.67636407
90PAK60.67622424
91MAPKAPK30.67603796
92PRKD10.66045694
93PIK3CA0.65850792
94GRK70.64798719
95MAPK70.64322850
96MAP2K10.64249831
97STK390.64237550
98PRKAA10.64202023
99STK40.64105657
100UHMK10.63568889
101ILK0.63133208
102RPS6KB10.61960442
103EEF2K0.61725248
104PTK20.61592108
105RPS6KA50.60966856
106PRKCE0.60553001
107MAPK120.57453757
108SIK20.57296069
109WNK40.56648930
110MUSK0.55143111
111NTRK20.54253595
112MAP3K90.53881605
113OXSR10.52431569
114PDK10.51771474
115CAMK1G0.51397482
116CAMK40.51028771
117CAMK2A0.50678102
118CHEK10.49181969
119BMX0.48830598
120ATM0.48498247
121RIPK10.48126610
122MKNK20.46387593
123PRKG20.45857711
124SGK20.45169239
125STK100.45154799
126ERBB20.43725721
127BRSK10.43312773
128CSNK1E0.42546616
129TXK0.42463899
130SRPK10.42388998
131PRKG10.42376157
132PRKCG0.40804708
133INSR0.40217470
134GRK10.40051484
135MAP2K30.39663078
136CAMK10.38893814
137HIPK20.38644691
138MAP2K70.37712439
139IGF1R0.36518047
140CDC42BPA0.36187314
141AKT10.35267961
142ATR0.34181918
143AKT20.32846036
144PRKD30.32606502
145ADRBK20.32448224
146MTOR0.32429769
147ITK0.31238127
148MAP3K20.30490651
149JAK20.30475212
150CDK10.29759205
151FRK0.29140285
152PRKCB0.29115545
153MAPK140.28684049
154LIMK10.28306670
155TAOK30.28252365
156PRKACB0.27599076
157MARK30.26153650
158MAPK10.25989336
159PRKACG0.25363184
160TYRO30.22665075
161CAMK2D0.22374462
162MAP3K30.21962774
163PDK20.21901758
164MST1R0.19199594
165ZAP700.18789664
166GRK50.17766876
167CAMK2G0.16665361
168PRKACA0.16643537
169PAK20.16593604
170TESK10.15264709

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049503.59549064
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.49507068
3Systemic lupus erythematosus_Homo sapiens_hsa053222.71376118
4Dorso-ventral axis formation_Homo sapiens_hsa043202.57080868
5Complement and coagulation cascades_Homo sapiens_hsa046102.49611961
6Primary bile acid biosynthesis_Homo sapiens_hsa001202.48750414
7Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.48285296
8Fanconi anemia pathway_Homo sapiens_hsa034602.39742849
9Dilated cardiomyopathy_Homo sapiens_hsa054142.35660943
10Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005122.32065377
11Alcoholism_Homo sapiens_hsa050342.13545210
12Regulation of autophagy_Homo sapiens_hsa041402.09302279
13Non-homologous end-joining_Homo sapiens_hsa034502.05479838
14Folate biosynthesis_Homo sapiens_hsa007902.01213964
15Basal transcription factors_Homo sapiens_hsa030222.00963337
16Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.97801296
17One carbon pool by folate_Homo sapiens_hsa006701.92128790
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.91401003
19Cell cycle_Homo sapiens_hsa041101.90882058
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.76765555
21Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.75131062
22Sulfur relay system_Homo sapiens_hsa041221.72175100
23Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.70623365
24Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.68860908
25Histidine metabolism_Homo sapiens_hsa003401.64589121
26Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.63040519
27Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.62744551
28Sphingolipid metabolism_Homo sapiens_hsa006001.62358582
29Insulin secretion_Homo sapiens_hsa049111.60179962
30Propanoate metabolism_Homo sapiens_hsa006401.55146985
31Starch and sucrose metabolism_Homo sapiens_hsa005001.54928654
32Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.54469363
33Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.48724707
34PPAR signaling pathway_Homo sapiens_hsa033201.46100809
35Viral carcinogenesis_Homo sapiens_hsa052031.44483968
36Other glycan degradation_Homo sapiens_hsa005111.38590653
37Butanoate metabolism_Homo sapiens_hsa006501.37276403
38Hippo signaling pathway_Homo sapiens_hsa043901.32985875
39Small cell lung cancer_Homo sapiens_hsa052221.32083115
40Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.31091181
41Calcium signaling pathway_Homo sapiens_hsa040201.30278169
42MicroRNAs in cancer_Homo sapiens_hsa052061.27211212
43Bile secretion_Homo sapiens_hsa049761.27044519
44Prostate cancer_Homo sapiens_hsa052151.26147952
45Tight junction_Homo sapiens_hsa045301.22640710
46Chemical carcinogenesis_Homo sapiens_hsa052041.21699343
47mRNA surveillance pathway_Homo sapiens_hsa030151.19100382
48Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.18992419
49Circadian rhythm_Homo sapiens_hsa047101.18221626
50Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.18126134
51Type I diabetes mellitus_Homo sapiens_hsa049401.17086420
52Insulin resistance_Homo sapiens_hsa049311.15920213
53Glycerolipid metabolism_Homo sapiens_hsa005611.08354589
54Homologous recombination_Homo sapiens_hsa034401.06146482
55Adipocytokine signaling pathway_Homo sapiens_hsa049201.06022125
56Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.05965844
57Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.04616482
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.04436335
59Malaria_Homo sapiens_hsa051441.03843261
60p53 signaling pathway_Homo sapiens_hsa041151.03278835
61Nucleotide excision repair_Homo sapiens_hsa034201.02850192
62Fatty acid degradation_Homo sapiens_hsa000711.02610544
63Ovarian steroidogenesis_Homo sapiens_hsa049131.01844138
64Tryptophan metabolism_Homo sapiens_hsa003801.01245482
65Circadian entrainment_Homo sapiens_hsa047131.01177808
66beta-Alanine metabolism_Homo sapiens_hsa004101.00034318
67Arginine biosynthesis_Homo sapiens_hsa002200.97220030
68Chronic myeloid leukemia_Homo sapiens_hsa052200.96803038
69Phototransduction_Homo sapiens_hsa047440.95785011
70Type II diabetes mellitus_Homo sapiens_hsa049300.95254111
71Vitamin B6 metabolism_Homo sapiens_hsa007500.95183749
72Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.94595903
73Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.92555271
74Selenocompound metabolism_Homo sapiens_hsa004500.91290155
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.89604499
76Phenylalanine metabolism_Homo sapiens_hsa003600.89291502
77Taste transduction_Homo sapiens_hsa047420.89187424
78Nicotine addiction_Homo sapiens_hsa050330.89033582
79Fatty acid metabolism_Homo sapiens_hsa012120.86533213
80Glioma_Homo sapiens_hsa052140.85963314
81Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.83510574
82Morphine addiction_Homo sapiens_hsa050320.82597083
83Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.81394790
84Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.81119948
85Oocyte meiosis_Homo sapiens_hsa041140.80413766
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.80148318
87Vitamin digestion and absorption_Homo sapiens_hsa049770.79951952
88ErbB signaling pathway_Homo sapiens_hsa040120.79748219
89Pentose and glucuronate interconversions_Homo sapiens_hsa000400.79532052
90Basal cell carcinoma_Homo sapiens_hsa052170.78734169
91Estrogen signaling pathway_Homo sapiens_hsa049150.77429521
92Glucagon signaling pathway_Homo sapiens_hsa049220.77195470
93Platelet activation_Homo sapiens_hsa046110.77190986
94Lysosome_Homo sapiens_hsa041420.77052441
95Hedgehog signaling pathway_Homo sapiens_hsa043400.76981516
96Glycerophospholipid metabolism_Homo sapiens_hsa005640.76469371
97Fatty acid biosynthesis_Homo sapiens_hsa000610.75560734
98Retinol metabolism_Homo sapiens_hsa008300.74256459
99Olfactory transduction_Homo sapiens_hsa047400.72690407
100Insulin signaling pathway_Homo sapiens_hsa049100.70292375
101Linoleic acid metabolism_Homo sapiens_hsa005910.70249334
102ABC transporters_Homo sapiens_hsa020100.70147042
103Carbohydrate digestion and absorption_Homo sapiens_hsa049730.69408847
104Glycosaminoglycan degradation_Homo sapiens_hsa005310.68395481
105Salivary secretion_Homo sapiens_hsa049700.67829812
106Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.67027251
107Pancreatic cancer_Homo sapiens_hsa052120.66381066
108Autoimmune thyroid disease_Homo sapiens_hsa053200.66380280
109Ether lipid metabolism_Homo sapiens_hsa005650.64537612
110RNA transport_Homo sapiens_hsa030130.64523887
111Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.64497441
112Notch signaling pathway_Homo sapiens_hsa043300.64447828
113TGF-beta signaling pathway_Homo sapiens_hsa043500.63669890
114Oxytocin signaling pathway_Homo sapiens_hsa049210.62415899
115Pathways in cancer_Homo sapiens_hsa052000.62404173
116ECM-receptor interaction_Homo sapiens_hsa045120.62258349
117Ribosome_Homo sapiens_hsa030100.60919789
118Non-small cell lung cancer_Homo sapiens_hsa052230.59189192
119Bladder cancer_Homo sapiens_hsa052190.58686382
120Pyrimidine metabolism_Homo sapiens_hsa002400.57933520
121Protein digestion and absorption_Homo sapiens_hsa049740.56369808
122Melanoma_Homo sapiens_hsa052180.55991030
123Staphylococcus aureus infection_Homo sapiens_hsa051500.54396630
124Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.54155209
125Purine metabolism_Homo sapiens_hsa002300.53715351
126AMPK signaling pathway_Homo sapiens_hsa041520.53063163
127Lysine degradation_Homo sapiens_hsa003100.52754351
128Wnt signaling pathway_Homo sapiens_hsa043100.52553238
129Drug metabolism - other enzymes_Homo sapiens_hsa009830.52536313
130Endometrial cancer_Homo sapiens_hsa052130.52494669
131Longevity regulating pathway - mammal_Homo sapiens_hsa042110.52402604
132NOD-like receptor signaling pathway_Homo sapiens_hsa046210.51332492
133Phosphatidylinositol signaling system_Homo sapiens_hsa040700.50408664
134Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50075184
135Focal adhesion_Homo sapiens_hsa045100.49203937
136Nitrogen metabolism_Homo sapiens_hsa009100.49069462
137GnRH signaling pathway_Homo sapiens_hsa049120.47756730
138Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.47250585
139Axon guidance_Homo sapiens_hsa043600.47058152
140Renal cell carcinoma_Homo sapiens_hsa052110.46977836
141PI3K-Akt signaling pathway_Homo sapiens_hsa041510.46212741
142cAMP signaling pathway_Homo sapiens_hsa040240.46038251
143Pentose phosphate pathway_Homo sapiens_hsa000300.43006360
144Gastric acid secretion_Homo sapiens_hsa049710.42917142
145Peroxisome_Homo sapiens_hsa041460.41138333
146Phospholipase D signaling pathway_Homo sapiens_hsa040720.40181410
147Tyrosine metabolism_Homo sapiens_hsa003500.39571659
148Intestinal immune network for IgA production_Homo sapiens_hsa046720.39565751
149cGMP-PKG signaling pathway_Homo sapiens_hsa040220.39476594
150Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.38979455
151Gap junction_Homo sapiens_hsa045400.38070766
152Prolactin signaling pathway_Homo sapiens_hsa049170.37987932
153Adherens junction_Homo sapiens_hsa045200.37360932
154Inositol phosphate metabolism_Homo sapiens_hsa005620.36917489
155HTLV-I infection_Homo sapiens_hsa051660.36812396
156Pancreatic secretion_Homo sapiens_hsa049720.36506295
157Arginine and proline metabolism_Homo sapiens_hsa003300.35427788
158Hematopoietic cell lineage_Homo sapiens_hsa046400.34384726
159Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.32961251
160Vascular smooth muscle contraction_Homo sapiens_hsa042700.32633382
161Sphingolipid signaling pathway_Homo sapiens_hsa040710.31966428
162alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.31698614
163Renin secretion_Homo sapiens_hsa049240.31215426
164Serotonergic synapse_Homo sapiens_hsa047260.30721400

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