SH3TC2

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 with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1aminoglycoside antibiotic metabolic process (GO:0030647)6.43675009
2daunorubicin metabolic process (GO:0044597)6.26394313
3polyketide metabolic process (GO:0030638)6.26394313
4doxorubicin metabolic process (GO:0044598)6.26394313
5regulation of response to osmotic stress (GO:0047484)6.22588795
6estrogen biosynthetic process (GO:0006703)5.72193626
7somite rostral/caudal axis specification (GO:0032525)5.14811877
8protein neddylation (GO:0045116)4.96135401
9regulation of integrin-mediated signaling pathway (GO:2001044)4.94017868
10maintenance of protein location in nucleus (GO:0051457)4.82388435
11negative regulation of epidermis development (GO:0045683)4.81652185
12thrombin receptor signaling pathway (GO:0070493)4.77121748
13long-chain fatty acid biosynthetic process (GO:0042759)4.22568818
14hemidesmosome assembly (GO:0031581)4.17987048
15positive regulation of macrophage cytokine production (GO:0060907)4.05073004
16regulation of apoptotic process involved in morphogenesis (GO:1902337)3.97103060
17notochord development (GO:0030903)3.93980580
18muscle organ morphogenesis (GO:0048644)3.87847045
19negative regulation of protein localization to cell surface (GO:2000009)3.79520736
20biotin metabolic process (GO:0006768)3.78383547
21negative regulation of macrophage derived foam cell differentiation (GO:0010745)3.74912041
22bone trabecula formation (GO:0060346)3.73005556
23regulation of MHC class I biosynthetic process (GO:0045343)3.68290901
24negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)3.66382722
25hormone catabolic process (GO:0042447)3.65663366
26regulation of telomere maintenance via telomerase (GO:0032210)3.63731333
27regulation of lipoprotein metabolic process (GO:0050746)3.63365999
28regulation of mammary gland epithelial cell proliferation (GO:0033599)3.62740798
29negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)3.54685440
30branching involved in mammary gland duct morphogenesis (GO:0060444)3.53439417
31regulation of platelet aggregation (GO:0090330)3.49514611
32tachykinin receptor signaling pathway (GO:0007217)3.49207792
33melanin biosynthetic process (GO:0042438)3.41713804
34heme transport (GO:0015886)3.41274513
35negative regulation of epidermal cell differentiation (GO:0045605)3.40576891
36negative regulation of platelet activation (GO:0010544)3.39048418
37renal absorption (GO:0070293)3.38170211
38positive regulation of endothelial cell differentiation (GO:0045603)3.37945730
39organic cation transport (GO:0015695)3.36638490
40ensheathment of neurons (GO:0007272)3.35643926
41axon ensheathment (GO:0008366)3.35643926
42asymmetric protein localization (GO:0008105)3.33399666
43neurotransmitter catabolic process (GO:0042135)3.33157033
44epithelial cell differentiation involved in prostate gland development (GO:0060742)3.28099867
45mesodermal cell differentiation (GO:0048333)3.27434826
46negative regulation of heart rate (GO:0010459)3.27219708
47cell fate commitment involved in formation of primary germ layer (GO:0060795)3.27012024
48regulation of gonadotropin secretion (GO:0032276)3.26892883
49negative regulation of cell fate commitment (GO:0010454)3.26375466
50protein localization to kinetochore (GO:0034501)3.25578845
51transepithelial transport (GO:0070633)3.24055436
52hypotonic response (GO:0006971)3.20968209
53plasma membrane fusion (GO:0045026)3.17942018
54Leydig cell differentiation (GO:0033327)3.17668420
55regulation of odontogenesis of dentin-containing tooth (GO:0042487)3.17455663
56regulation of hippo signaling (GO:0035330)3.16811072
57negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.14635931
58positive regulation of inositol phosphate biosynthetic process (GO:0060732)3.14128019
59myelination (GO:0042552)3.13939651
60icosanoid secretion (GO:0032309)3.13429453
61arachidonic acid secretion (GO:0050482)3.13429453
62sphingoid metabolic process (GO:0046519)3.12707488
63response to water (GO:0009415)3.12197020
64response to dietary excess (GO:0002021)3.11982558
65negative regulation of response to food (GO:0032096)3.11769676
66negative regulation of appetite (GO:0032099)3.11769676
67cellular modified amino acid catabolic process (GO:0042219)3.09662636
68cytidine metabolic process (GO:0046087)3.09211739
69cytidine catabolic process (GO:0006216)3.09211739
70cytidine deamination (GO:0009972)3.09211739
71regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.07617563
72coenzyme catabolic process (GO:0009109)3.07231759
73microtubule severing (GO:0051013)3.06468644
74establishment of endothelial barrier (GO:0061028)3.05521318
75negative regulation of homotypic cell-cell adhesion (GO:0034111)3.05152161
76positive regulation of cAMP-mediated signaling (GO:0043950)3.04503613
77positive regulation of digestive system process (GO:0060456)3.03699735
78multicellular organism reproduction (GO:0032504)2.98537594
79relaxation of smooth muscle (GO:0044557)2.98135747
80regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.97762401
81central nervous system myelination (GO:0022010)2.96773170
82axon ensheathment in central nervous system (GO:0032291)2.96773170
83regulation of dendritic cell antigen processing and presentation (GO:0002604)2.96081614
84detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.94835724
85nucleoside transmembrane transport (GO:1901642)2.94471838
86regulation of platelet activation (GO:0010543)2.94034687
87regulation of endothelial cell differentiation (GO:0045601)2.93938802
88positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.93544512
89secondary metabolite biosynthetic process (GO:0044550)2.93456478
90cofactor transport (GO:0051181)2.91989523
91rRNA transcription (GO:0009303)2.90942720
92histone H4-K5 acetylation (GO:0043981)2.90578540
93histone H4-K8 acetylation (GO:0043982)2.90578540
94melanin metabolic process (GO:0006582)2.90293761
95creatine metabolic process (GO:0006600)2.90148438
96phenol-containing compound catabolic process (GO:0019336)2.88468258
97endosome to melanosome transport (GO:0035646)2.87899170
98endosome to pigment granule transport (GO:0043485)2.87899170
99negative regulation of cell cycle G2/M phase transition (GO:1902750)2.87774012
100maintenance of protein localization in organelle (GO:0072595)2.87204813
101icosanoid transport (GO:0071715)2.87145564
102fatty acid derivative transport (GO:1901571)2.87145564
103response to gravity (GO:0009629)2.85948351
104epoxygenase P450 pathway (GO:0019373)2.85847057
105diol metabolic process (GO:0034311)2.85712049
106detection of mechanical stimulus involved in sensory perception (GO:0050974)2.85501577
107cardiovascular system development (GO:0072358)2.85048985
108negative regulation of telomerase activity (GO:0051974)2.85048314
109proline transport (GO:0015824)2.81884738
110regulation of cilium movement (GO:0003352)2.80205099
111dopamine transport (GO:0015872)2.80085209
112purinergic nucleotide receptor signaling pathway (GO:0035590)2.79292624
113maternal placenta development (GO:0001893)2.77862027
114regulation of telomerase activity (GO:0051972)2.77577012
115positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.76714000
116cellular response to vitamin D (GO:0071305)2.75058978
117regulation of cell fate commitment (GO:0010453)2.74202459
118androgen biosynthetic process (GO:0006702)2.74052133
119glycerophospholipid catabolic process (GO:0046475)2.73324590
120histone H4-K12 acetylation (GO:0043983)2.72796946
121lateral sprouting from an epithelium (GO:0060601)2.71827402
122bundle of His cell to Purkinje myocyte communication (GO:0086069)2.71083887
123protoporphyrinogen IX biosynthetic process (GO:0006782)2.70665258
124protoporphyrinogen IX metabolic process (GO:0046501)2.69917450
125anterior/posterior axis specification (GO:0009948)2.69527019
126virion attachment to host cell (GO:0019062)2.67584733
127adhesion of symbiont to host cell (GO:0044650)2.67584733
128positive regulation of Cdc42 GTPase activity (GO:0043089)2.67188202
129glutathione biosynthetic process (GO:0006750)2.67012693
130diaphragm development (GO:0060539)2.66282803
131intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)2.65833017
132adenosine receptor signaling pathway (GO:0001973)2.65350386
133estrogen metabolic process (GO:0008210)2.65284781
134positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)2.64630522
135fusion of sperm to egg plasma membrane (GO:0007342)2.64436079
136chromatin assembly (GO:0031497)2.64430622
137serotonin metabolic process (GO:0042428)2.63857300
138negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)2.61522251
139cellular response to osmotic stress (GO:0071470)2.60692431
140protein localization to chromosome, centromeric region (GO:0071459)2.60688033
141phagocytosis, recognition (GO:0006910)2.60531345
142cyclooxygenase pathway (GO:0019371)2.59399436
143positive regulation of Rho protein signal transduction (GO:0035025)2.57101916
144membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.56594367
145neuronal action potential propagation (GO:0019227)2.54207793
146primary amino compound metabolic process (GO:1901160)2.51210982
147male meiosis (GO:0007140)2.51061840
148neuronal action potential (GO:0019228)2.50929512
149platelet dense granule organization (GO:0060155)2.50250968
150positive regulation of receptor recycling (GO:0001921)2.50092275
151angiogenesis involved in wound healing (GO:0060055)2.48123823
152phosphatidylinositol acyl-chain remodeling (GO:0036149)2.47283188
153sperm motility (GO:0030317)2.46777855
154piRNA metabolic process (GO:0034587)2.46153805
155cellular biogenic amine catabolic process (GO:0042402)2.44693470
156amine catabolic process (GO:0009310)2.44693470
157negative regulation of calcium ion transport into cytosol (GO:0010523)2.43603457
158fatty acid elongation (GO:0030497)2.41626230
159behavioral response to nicotine (GO:0035095)2.39859757
160melanosome organization (GO:0032438)2.39230419
161autophagic vacuole fusion (GO:0000046)2.38697215
162platelet aggregation (GO:0070527)2.38319615
163regulation of response to food (GO:0032095)2.37061301
164regulation of clathrin-mediated endocytosis (GO:2000369)2.36601648
165regulation of homotypic cell-cell adhesion (GO:0034110)2.36561017
166negative regulation of neurotransmitter transport (GO:0051589)2.36009349
167regulation of synaptic transmission, dopaminergic (GO:0032225)2.35596320
168negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.35276410
169cyclic nucleotide catabolic process (GO:0009214)2.35141396
170L-fucose catabolic process (GO:0042355)2.31645389
171fucose catabolic process (GO:0019317)2.31645389
172L-fucose metabolic process (GO:0042354)2.31645389
173termination of G-protein coupled receptor signaling pathway (GO:0038032)2.30579686
174prostate gland growth (GO:0060736)2.30575246
175righting reflex (GO:0060013)2.29875626
176phosphorelay signal transduction system (GO:0000160)2.29590937
177regulation of neurotransmitter uptake (GO:0051580)2.29417259
178regulation of sensory perception (GO:0051931)2.29196302
179regulation of sensory perception of pain (GO:0051930)2.29196302
180detection of light stimulus involved in sensory perception (GO:0050962)2.29001178
181detection of light stimulus involved in visual perception (GO:0050908)2.29001178
182phenol-containing compound biosynthetic process (GO:0046189)2.28778462
183microtubule polymerization or depolymerization (GO:0031109)2.28330871
184protein K11-linked deubiquitination (GO:0035871)2.28318738
185triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.28147716
186protein polyglutamylation (GO:0018095)2.27482326
187sphingosine metabolic process (GO:0006670)2.26352725
188microtubule depolymerization (GO:0007019)2.25350610
189purinergic receptor signaling pathway (GO:0035587)2.24391048
190positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)2.23165705
191adenosine metabolic process (GO:0046085)2.22995935
192myelin assembly (GO:0032288)2.22464241
193acrosome reaction (GO:0007340)2.22116344

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KLF2_18264089_ChIP-ChIP_MESCs_Mouse5.97195915
2KLF5_18264089_ChIP-ChIP_MESCs_Mouse5.97195915
3KLF4_18264089_ChIP-ChIP_MESCs_Mouse5.97195915
4TP63_17297297_ChIP-ChIP_HaCaT_Human4.76519689
5BP1_19119308_ChIP-ChIP_Hs578T_Human4.52226974
6GBX2_23144817_ChIP-Seq_PC3_Human3.75270632
7TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.94890239
8NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.56720270
9SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.53341204
10TRIM28_21343339_ChIP-Seq_HEK293_Human2.44989983
11PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.40428581
12FOXO3_23340844_ChIP-Seq_DLD1_Human2.37578438
13ESR2_21235772_ChIP-Seq_MCF-7_Human2.33489961
14SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.31285646
15NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.30489689
16* CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.25940334
17* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.22738722
18HIF1A_21447827_ChIP-Seq_MCF-7_Human2.19187250
19ZFP57_27257070_Chip-Seq_ESCs_Mouse2.17577124
20SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.16095932
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.15862824
22POU3F2_20337985_ChIP-ChIP_501MEL_Human2.15161478
23SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.14369540
24NANOG_18347094_ChIP-ChIP_MESCs_Mouse2.09508052
25TAF15_26573619_Chip-Seq_HEK293_Human2.09354984
26STAT6_21828071_ChIP-Seq_BEAS2B_Human2.02699825
27TCF3_18692474_ChIP-Seq_MESCs_Mouse2.01581491
28SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.99359415
29ESR1_21235772_ChIP-Seq_MCF-7_Human1.96030461
30TCF3_18692474_ChIP-Seq_MEFs_Mouse1.94918740
31NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.93967409
32POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.91644830
33CDX2_19796622_ChIP-Seq_MESCs_Mouse1.89642470
34SMAD4_21799915_ChIP-Seq_A2780_Human1.89042500
35P300_19829295_ChIP-Seq_ESCs_Human1.85332394
36FLI1_27457419_Chip-Seq_LIVER_Mouse1.83776997
37TP53_16413492_ChIP-PET_HCT116_Human1.80942130
38STAT3_23295773_ChIP-Seq_U87_Human1.79847011
39CTBP2_25329375_ChIP-Seq_LNCAP_Human1.78673701
40ZNF217_24962896_ChIP-Seq_MCF-7_Human1.73291095
41NANOG_18692474_ChIP-Seq_MEFs_Mouse1.72376219
42PIAS1_25552417_ChIP-Seq_VCAP_Human1.68415402
43SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.68086710
44ER_23166858_ChIP-Seq_MCF-7_Human1.67844664
45ARNT_22903824_ChIP-Seq_MCF-7_Human1.66823819
46EZH2_22144423_ChIP-Seq_EOC_Human1.66132312
47SMAD_19615063_ChIP-ChIP_OVARY_Human1.65418890
48OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.64869554
49CJUN_26792858_Chip-Seq_BT549_Human1.64493779
50KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.63223016
51AR_25329375_ChIP-Seq_VCAP_Human1.60795061
52PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.60646966
53* TCF4_23295773_ChIP-Seq_U87_Human1.60638617
54NANOG_18692474_ChIP-Seq_MESCs_Mouse1.60228836
55TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.59580861
56* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.57899047
57NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.56185483
58CDX2_20551321_ChIP-Seq_CACO-2_Human1.55516497
59TP53_22127205_ChIP-Seq_IMR90_Human1.54578701
60RACK7_27058665_Chip-Seq_MCF-7_Human1.52129362
61LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.50765422
62ESR1_20079471_ChIP-ChIP_T-47D_Human1.49583445
63PCGF2_27294783_Chip-Seq_ESCs_Mouse1.48995301
64TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.48937604
65NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.48856742
66NRF2_20460467_ChIP-Seq_MEFs_Mouse1.48856742
67TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.48374184
68EWS_26573619_Chip-Seq_HEK293_Human1.47304754
69PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.46753020
70PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.46031175
71MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.46004225
72JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.43759544
73AR_21909140_ChIP-Seq_LNCAP_Human1.42721619
74ZNF274_21170338_ChIP-Seq_K562_Hela1.42509338
75CTBP1_25329375_ChIP-Seq_LNCAP_Human1.38923050
76SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.38479223
77SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38427599
78FUS_26573619_Chip-Seq_HEK293_Human1.38122200
79AR_21572438_ChIP-Seq_LNCaP_Human1.37224521
80* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.35869017
81BCAT_22108803_ChIP-Seq_LS180_Human1.35330561
82JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.33732107
83EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.33252241
84IGF1R_20145208_ChIP-Seq_DFB_Human1.33126637
85SUZ12_27294783_Chip-Seq_NPCs_Mouse1.32316650
86ERG_21242973_ChIP-ChIP_JURKAT_Human1.32133802
87NANOG_18555785_Chip-Seq_ESCs_Mouse1.31883227
88EZH2_27294783_Chip-Seq_NPCs_Mouse1.30711338
89GATA1_22025678_ChIP-Seq_K562_Human1.29234626
90RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28478218
91P53_22387025_ChIP-Seq_ESCs_Mouse1.28293721
92HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.27689788
93NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.26874821
94* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.26405441
95CBP_20019798_ChIP-Seq_JUKART_Human1.25997895
96IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25997895
97ELK3_25401928_ChIP-Seq_HUVEC_Human1.25706352
98TP53_18474530_ChIP-ChIP_U2OS_Human1.25630189
99STAT3_1855785_ChIP-Seq_MESCs_Mouse1.25481662
100EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.25099481
101* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.24688554
102* TP63_23658742_ChIP-Seq_EP156T_Human1.24468632
103SOX2_27498859_Chip-Seq_STOMACH_Mouse1.24069062
104CDX2_22108803_ChIP-Seq_LS180_Human1.21809847
105CTNNB1_20460455_ChIP-Seq_HCT116_Human1.20837908
106GATA1_19941826_ChIP-Seq_K562_Human1.20566670
107E2F1_18555785_Chip-Seq_ESCs_Mouse1.20556910
108FOXM1_26456572_ChIP-Seq_MCF-7_Human1.20337734
109SMAD3_21741376_ChIP-Seq_EPCs_Human1.18700403
110* SMAD4_21741376_ChIP-Seq_EPCs_Human1.18403506
111NFE2_27457419_Chip-Seq_LIVER_Mouse1.17145644
112TCF4_22108803_ChIP-Seq_LS180_Human1.16996536
113SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.16979246
114TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.16769154
115* SOX2_21211035_ChIP-Seq_LN229_Gbm1.16304308
116KDM2B_26808549_Chip-Seq_K562_Human1.15138081
117GATA4_25053715_ChIP-Seq_YYC3_Human1.14643756
118WT1_19549856_ChIP-ChIP_CCG9911_Human1.13898012
119HTT_18923047_ChIP-ChIP_STHdh_Human1.13692014
120SOX2_19829295_ChIP-Seq_ESCs_Human1.13682525
121NANOG_19829295_ChIP-Seq_ESCs_Human1.13682525
122EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.13621375
123ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.13539794
124FOXA1_25329375_ChIP-Seq_VCAP_Human1.13165158
125FOXA1_27270436_Chip-Seq_PROSTATE_Human1.13165158
126RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.12948017
127SUZ12_18555785_Chip-Seq_ESCs_Mouse1.12853022
128STAT3_18555785_Chip-Seq_ESCs_Mouse1.12152679
129POU5F1_16518401_ChIP-PET_MESCs_Mouse1.11912069
130TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11615918
131EP300_21415370_ChIP-Seq_HL-1_Mouse1.10815466
132CMYC_18555785_Chip-Seq_ESCs_Mouse1.10141449
133ZFP281_27345836_Chip-Seq_ESCs_Mouse1.09854419
134SOX2_18692474_ChIP-Seq_MEFs_Mouse1.09081426
135ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.08977095
136GATA6_25053715_ChIP-Seq_YYC3_Human1.08558413
137* BRD4_25478319_ChIP-Seq_HGPS_Human1.08297304
138SOX9_24532713_ChIP-Seq_HFSC_Mouse1.08182521
139* PRDM14_20953172_ChIP-Seq_ESCs_Human1.07767875
140CSB_26484114_Chip-Seq_FIBROBLAST_Human1.07696405
141GATA2_21666600_ChIP-Seq_HMVEC_Human1.07362731
142TOP2B_26459242_ChIP-Seq_MCF-7_Human1.07025188
143KDM2B_26808549_Chip-Seq_SUP-B15_Human1.06752627
144RUNX1_27514584_Chip-Seq_MCF-7_Human1.06294518
145CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.06141879
146PCGF2_27294783_Chip-Seq_NPCs_Mouse1.05752722
147TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.05559326
148RUNX2_22187159_ChIP-Seq_PCA_Human1.05221373
149NCOR1_26117541_ChIP-Seq_K562_Human1.05209893
150TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.05198664
151SMC4_20622854_ChIP-Seq_HELA_Human1.05091880
152CRX_20693478_ChIP-Seq_RETINA_Mouse1.04380615
153RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.04193679
154TBL1_22424771_ChIP-Seq_293T_Human1.03200121
155JUN_21703547_ChIP-Seq_K562_Human1.03153342
156GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.03023022
157PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.02931765
158SOX2_18692474_ChIP-Seq_MESCs_Mouse1.02765216
159EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.02114675
160RING1B_27294783_Chip-Seq_NPCs_Mouse1.01775081
161GATA2_19941826_ChIP-Seq_K562_Human1.01726309
162TP63_22573176_ChIP-Seq_HFKS_Human1.01580632
163FLI1_21867929_ChIP-Seq_TH2_Mouse1.01064104
164CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.01028138
165ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.00152861
166* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.99957269
167LXR_22292898_ChIP-Seq_THP-1_Human0.99407610
168E2F1_17053090_ChIP-ChIP_MCF-7_Human0.99186935
169SALL4_18804426_ChIP-ChIP_XEN_Mouse0.99068137
170TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.97822968
171NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.97004158
172IRF1_19129219_ChIP-ChIP_H3396_Human0.96679931
173THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.96102705
174OCT4_18692474_ChIP-Seq_MEFs_Mouse0.95031188
175ZFP281_18757296_ChIP-ChIP_E14_Mouse0.94975111
176STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.94089724
177TP53_20018659_ChIP-ChIP_R1E_Mouse0.92513495
178* PPAR_26484153_Chip-Seq_NCI-H1993_Human0.92470455
179SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.91538167
180KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.91307619
181KLF5_25053715_ChIP-Seq_YYC3_Human0.89809006
182EOMES_21245162_ChIP-Seq_HESCs_Human0.88063049
183VDR_22108803_ChIP-Seq_LS180_Human0.87767195
184TBX20_22080862_ChIP-Seq_HEART_Mouse0.84440108
185TBX20_22328084_ChIP-Seq_HEART_Mouse0.84440108
186POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.84380220
187BCOR_27268052_Chip-Seq_Bcells_Human0.84301669
188ESET_19884257_ChIP-Seq_ESCs_Mouse0.82897881
189SMAD3_21741376_ChIP-Seq_HESCs_Human0.82790979
190KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.81426148
191AHR_22903824_ChIP-Seq_MCF-7_Human0.80844951
192SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.80758429
193ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.80481399
194TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.79918520

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002254_reproductive_system_inflammat9.10538656
2MP0005464_abnormal_platelet_physiology4.12054989
3MP0001348_abnormal_lacrimal_gland3.77802035
4MP0004272_abnormal_basement_membrane3.71018589
5MP0009697_abnormal_copulation3.31447769
6MP0000569_abnormal_digit_pigmentation3.03698146
7MP0001346_abnormal_lacrimal_gland2.98336231
8MP0004264_abnormal_extraembryonic_tissu2.87426047
9MP0003011_delayed_dark_adaptation2.59838561
10MP0009780_abnormal_chondrocyte_physiolo2.56481272
11MP0000015_abnormal_ear_pigmentation2.53629418
12MP0000383_abnormal_hair_follicle2.40273075
13MP0001968_abnormal_touch/_nociception2.35424710
14MP0004381_abnormal_hair_follicle2.26613103
15MP0004858_abnormal_nervous_system2.25614087
16MP0002876_abnormal_thyroid_physiology2.22003262
17MP0004043_abnormal_pH_regulation2.16105188
18MP0010678_abnormal_skin_adnexa2.12473241
19MP0008775_abnormal_heart_ventricle2.10226142
20MP0003705_abnormal_hypodermis_morpholog2.07986205
21MP0005174_abnormal_tail_pigmentation2.06417570
22MP0004147_increased_porphyrin_level2.03350229
23MP0005623_abnormal_meninges_morphology1.99746507
24MP0009046_muscle_twitch1.98714744
25MP0004510_myositis1.97502422
26MP0008872_abnormal_physiological_respon1.93325693
27MP0005075_abnormal_melanosome_morpholog1.91097089
28MP0002736_abnormal_nociception_after1.90737001
29MP0008004_abnormal_stomach_pH1.84806240
30MP0006276_abnormal_autonomic_nervous1.84260955
31MP0006082_CNS_inflammation1.84134399
32MP0005167_abnormal_blood-brain_barrier1.81836148
33MP0002877_abnormal_melanocyte_morpholog1.77901669
34MP0005083_abnormal_biliary_tract1.77588933
35MP0008057_abnormal_DNA_replication1.76108998
36MP0002095_abnormal_skin_pigmentation1.75328483
37MP0000762_abnormal_tongue_morphology1.75277324
38MP0000427_abnormal_hair_cycle1.73928606
39MP0006054_spinal_hemorrhage1.70338534
40MP0000230_abnormal_systemic_arterial1.70138253
41MP0001849_ear_inflammation1.64637720
42MP0005551_abnormal_eye_electrophysiolog1.64594997
43MP0005377_hearing/vestibular/ear_phenot1.61116548
44MP0003878_abnormal_ear_physiology1.61116548
45MP0004036_abnormal_muscle_relaxation1.61090979
46MP0002102_abnormal_ear_morphology1.58946274
47MP0004215_abnormal_myocardial_fiber1.55125570
48MP0002733_abnormal_thermal_nociception1.54963454
49MP0005646_abnormal_pituitary_gland1.54855170
50MP0002332_abnormal_exercise_endurance1.53806225
51MP0001501_abnormal_sleep_pattern1.52907525
52MP0001486_abnormal_startle_reflex1.50196806
53MP0003315_abnormal_perineum_morphology1.49015557
54MP0000465_gastrointestinal_hemorrhage1.46931592
55MP0003045_fibrosis1.46406711
56MP0002796_impaired_skin_barrier1.46084201
57MP0004484_altered_response_of1.44657171
58MP0005310_abnormal_salivary_gland1.41324365
59* MP0002272_abnormal_nervous_system1.39449554
60MP0000372_irregular_coat_pigmentation1.38937096
61MP0005499_abnormal_olfactory_system1.38840785
62MP0005394_taste/olfaction_phenotype1.38840785
63MP0000685_abnormal_immune_system1.38505416
64MP0000579_abnormal_nail_morphology1.38146437
65MP0004142_abnormal_muscle_tone1.37364170
66MP0003890_abnormal_embryonic-extraembry1.37131845
67MP0002098_abnormal_vibrissa_morphology1.35611358
68MP0005647_abnormal_sex_gland1.34552157
69MP0001970_abnormal_pain_threshold1.30867873
70MP0003195_calcinosis1.28456869
71MP0003136_yellow_coat_color1.28431274
72MP0010352_gastrointestinal_tract_polyps1.26774933
73MP0001905_abnormal_dopamine_level1.26068143
74MP0009745_abnormal_behavioral_response1.25779755
75MP0003646_muscle_fatigue1.25541801
76MP0001879_abnormal_lymphatic_vessel1.25380189
77MP0004085_abnormal_heartbeat1.22118821
78MP0002735_abnormal_chemical_nociception1.21514714
79MP0003950_abnormal_plasma_membrane1.18387924
80MP0010386_abnormal_urinary_bladder1.16153789
81MP0003122_maternal_imprinting1.15883318
82MP0003453_abnormal_keratinocyte_physiol1.15783358
83MP0000377_abnormal_hair_follicle1.15614883
84MP0002064_seizures1.13443091
85MP0003638_abnormal_response/metabolism_1.08851529
86MP0000749_muscle_degeneration1.06443964
87* MP0000920_abnormal_myelination1.05083231
88MP0005023_abnormal_wound_healing1.04566696
89MP0002653_abnormal_ependyma_morphology1.03310790
90MP0003718_maternal_effect1.02348404
91MP0002092_abnormal_eye_morphology1.02007708
92MP0005253_abnormal_eye_physiology1.01992629
93MP0005165_increased_susceptibility_to1.01004133
94MP0003566_abnormal_cell_adhesion1.00454080
95MP0001765_abnormal_ion_homeostasis0.99091739
96MP0001664_abnormal_digestion0.97909917
97MP0000013_abnormal_adipose_tissue0.97783591
98MP0006138_congestive_heart_failure0.97145087
99MP0010030_abnormal_orbit_morphology0.96621457
100MP0000647_abnormal_sebaceous_gland0.95040517
101MP0002572_abnormal_emotion/affect_behav0.92111211
102MP0009643_abnormal_urine_homeostasis0.91619813
103* MP0002067_abnormal_sensory_capabilities0.91154763
104MP0002972_abnormal_cardiac_muscle0.90780201
105MP0004957_abnormal_blastocyst_morpholog0.90746352
106MP0000371_diluted_coat_color0.90658594
107MP0005670_abnormal_white_adipose0.90643297
108MP0005645_abnormal_hypothalamus_physiol0.89522510
109MP0005257_abnormal_intraocular_pressure0.89340502
110MP0002233_abnormal_nose_morphology0.88937131
111MP0003879_abnormal_hair_cell0.88819389
112MP0001485_abnormal_pinna_reflex0.87918509
113MP0005409_darkened_coat_color0.87735312
114MP0003656_abnormal_erythrocyte_physiolo0.86602316
115MP0002932_abnormal_joint_morphology0.86202631
116MP0004084_abnormal_cardiac_muscle0.85702150
117MP0002075_abnormal_coat/hair_pigmentati0.85624959
118* MP0002229_neurodegeneration0.85030841
119MP0010329_abnormal_lipoprotein_level0.85006340
120MP0002127_abnormal_cardiovascular_syste0.84683591
121MP0005508_abnormal_skeleton_morphology0.83139051
122MP0010368_abnormal_lymphatic_system0.82042371
123MP0005620_abnormal_muscle_contractility0.81188576
124MP0005501_abnormal_skin_physiology0.80997516
125MP0001293_anophthalmia0.80395168
126MP0003938_abnormal_ear_development0.79854912
127MP0002108_abnormal_muscle_morphology0.79128676
128MP0005171_absent_coat_pigmentation0.79065167
129MP0003828_pulmonary_edema0.78297536
130MP0001756_abnormal_urination0.77542344
131MP0000678_abnormal_parathyroid_gland0.76870072
132MP0004924_abnormal_behavior0.76738469
133MP0005386_behavior/neurological_phenoty0.76738469
134MP0004885_abnormal_endolymph0.76302640
135MP0005330_cardiomyopathy0.76267381
136MP0000750_abnormal_muscle_regeneration0.75657746
137MP0002938_white_spotting0.75395304
138MP0006035_abnormal_mitochondrial_morpho0.74300088
139MP0003300_gastrointestinal_ulcer0.73137773
140MP0005187_abnormal_penis_morphology0.73043664
141MP0000613_abnormal_salivary_gland0.72633783
142MP0003635_abnormal_synaptic_transmissio0.72282388
143MP0003137_abnormal_impulse_conducting0.72008520
144MP0005084_abnormal_gallbladder_morpholo0.71909226
145MP0005275_abnormal_skin_tensile0.71718725
146MP0003633_abnormal_nervous_system0.71521734
147MP0001672_abnormal_embryogenesis/_devel0.71435865
148MP0005380_embryogenesis_phenotype0.71435865
149MP0003755_abnormal_palate_morphology0.71123610
150MP0000733_abnormal_muscle_development0.70856897
151MP0002088_abnormal_embryonic_growth/wei0.70815491
152MP0010234_abnormal_vibrissa_follicle0.70413616
153MP0002269_muscular_atrophy0.69560049
154MP0002063_abnormal_learning/memory/cond0.69198090
155MP0000432_abnormal_head_morphology0.68505420
156MP0002138_abnormal_hepatobiliary_system0.68488925
157MP0003984_embryonic_growth_retardation0.68280635
158MP0005408_hypopigmentation0.66615923
159MP0001851_eye_inflammation0.66270981
160MP0003698_abnormal_male_reproductive0.66118845
161MP0001873_stomach_inflammation0.66026611
162MP0010771_integument_phenotype0.65800622
163MP0001216_abnormal_epidermal_layer0.65708512
164MP0001958_emphysema0.65413936
165MP0005332_abnormal_amino_acid0.65029891
166MP0000566_synostosis0.65008506
167MP0008438_abnormal_cutaneous_collagen0.64535803
168MP0005410_abnormal_fertilization0.64243955
169MP0000467_abnormal_esophagus_morphology0.64160258
170MP0000049_abnormal_middle_ear0.63854264
171MP0008961_abnormal_basal_metabolism0.63723234
172MP0002925_abnormal_cardiovascular_devel0.63209100
173MP0004130_abnormal_muscle_cell0.63077638

Predicted human phenotypes

RankGene SetZ-score
1Bilateral microphthalmos (HP:0007633)6.41787548
2Prolonged bleeding time (HP:0003010)5.84508482
3Menorrhagia (HP:0000132)5.82639952
4Increased mean platelet volume (HP:0011877)5.45131971
5Petechiae (HP:0000967)5.34347460
6Abnormal platelet volume (HP:0011876)4.73734623
7Hypochromic microcytic anemia (HP:0004840)4.50976471
8Hepatoblastoma (HP:0002884)3.99827455
9Hyperlipoproteinemia (HP:0010980)3.98879601
10Congenital sensorineural hearing impairment (HP:0008527)3.93724285
11Aplasia/Hypoplasia of the spleen (HP:0010451)3.57677921
12Multiple enchondromatosis (HP:0005701)3.53405807
13Purpura (HP:0000979)3.52424310
14Segmental peripheral demyelination/remyelination (HP:0003481)3.52388209
15Epistaxis (HP:0000421)3.46814948
16Blue irides (HP:0000635)3.44908431
17Decreased central vision (HP:0007663)3.34760444
18Congenital stationary night blindness (HP:0007642)3.26715037
19Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.22907541
20Degeneration of the lateral corticospinal tracts (HP:0002314)3.22907541
21Gingival bleeding (HP:0000225)3.21620310
22Fused cervical vertebrae (HP:0002949)3.17107737
23Abnormality of calcium-phosphate metabolism (HP:0100530)3.15713954
24Ulnar claw (HP:0001178)3.15031641
25Abnormality of the fovea (HP:0000493)3.06965171
26Impaired platelet aggregation (HP:0003540)3.02067429
27Abnormal platelet function (HP:0011869)3.02067429
28Sensory axonal neuropathy (HP:0003390)3.00891124
29Trismus (HP:0000211)2.99135449
30Impaired proprioception (HP:0010831)2.96676326
31Abnormality of the lower motor neuron (HP:0002366)2.92644278
32Abnormality of the heme biosynthetic pathway (HP:0010472)2.90949977
33Hyperventilation (HP:0002883)2.89641141
34Generalized hypopigmentation of hair (HP:0011358)2.87818529
35Abnormality of the renal cortex (HP:0011035)2.86408688
36Difficulty running (HP:0009046)2.86039522
37Congenital, generalized hypertrichosis (HP:0004540)2.85152292
38Hypomagnesemia (HP:0002917)2.84961051
39Type I diabetes mellitus (HP:0100651)2.84849158
40Fair hair (HP:0002286)2.84403930
41Gaze-evoked nystagmus (HP:0000640)2.84313116
42Partial duplication of thumb phalanx (HP:0009944)2.82197699
43Abnormality of the salivary glands (HP:0010286)2.79104074
44Hypoplasia of the uterus (HP:0000013)2.78800981
45Clumsiness (HP:0002312)2.75883003
46Asplenia (HP:0001746)2.69719188
47Testicular atrophy (HP:0000029)2.69316199
48Rib fusion (HP:0000902)2.64736013
49Renal cortical cysts (HP:0000803)2.64330684
50Abnormality of binocular vision (HP:0011514)2.61661231
51Diplopia (HP:0000651)2.61661231
52* Abnormal auditory evoked potentials (HP:0006958)2.60671321
53Preauricular pit (HP:0004467)2.58987312
54Periauricular skin pits (HP:0100277)2.58987312
55Nasolacrimal duct obstruction (HP:0000579)2.58649113
56Increased circulating renin level (HP:0000848)2.56519235
57Aplasia/Hypoplasia of the fovea (HP:0008060)2.54771630
58Hypoplasia of the fovea (HP:0007750)2.54771630
59Gout (HP:0001997)2.54040632
60Hypokalemic alkalosis (HP:0001949)2.53174259
61Increased connective tissue (HP:0009025)2.52657025
62Bundle branch block (HP:0011710)2.51720755
63Termporal pattern (HP:0011008)2.50585600
64Insidious onset (HP:0003587)2.50585600
65Type II lissencephaly (HP:0007260)2.48475825
66Hyperinsulinemic hypoglycemia (HP:0000825)2.47999202
67Renal salt wasting (HP:0000127)2.47107734
68Poikilocytosis (HP:0004447)2.46821207
69Abnormality of alanine metabolism (HP:0010916)2.45357440
70Hyperalaninemia (HP:0003348)2.45357440
71Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.45357440
72Partial duplication of the phalanx of hand (HP:0009999)2.42621455
73Cholelithiasis (HP:0001081)2.42442367
74Pancreatic cysts (HP:0001737)2.39071569
75Attenuation of retinal blood vessels (HP:0007843)2.36545140
76Hypopigmentation of the fundus (HP:0007894)2.36515406
77Diaphragmatic weakness (HP:0009113)2.33867625
78Dyschromatopsia (HP:0007641)2.31073216
79Paralysis (HP:0003470)2.30650054
80Ventricular tachycardia (HP:0004756)2.28183542
81Neoplasm of striated muscle (HP:0009728)2.27898294
82Distal upper limb amyotrophy (HP:0007149)2.27330333
83Upper limb amyotrophy (HP:0009129)2.27330333
84Albinism (HP:0001022)2.27127869
85Hypoplasia of the iris (HP:0007676)2.24991550
86Febrile seizures (HP:0002373)2.24380376
87Hemiparesis (HP:0001269)2.22519626
88Aplasia/Hypoplasia of the macula (HP:0008059)2.22388742
89* Onion bulb formation (HP:0003383)2.21622858
90Abnormal lung lobation (HP:0002101)2.20203981
91Abnormal ventriculo-arterial connection (HP:0011563)2.19807709
92Transposition of the great arteries (HP:0001669)2.19807709
93Abnormal connection of the cardiac segments (HP:0011545)2.19807709
94Cerebellar dysplasia (HP:0007033)2.19314399
95Skin pits (HP:0100276)2.19096387
96Ocular albinism (HP:0001107)2.18749081
97Sex reversal (HP:0012245)2.18325518
98Abnormal sex determination (HP:0012244)2.18325518
99Aplasia/Hypoplasia affecting the retina (HP:0008061)2.17296799
100Hyperactive renin-angiotensin system (HP:0000841)2.17132788
101Abnormal gallbladder morphology (HP:0012437)2.16563621
102Ependymoma (HP:0002888)2.16058262
103Steppage gait (HP:0003376)2.15785480
104Pancreatic fibrosis (HP:0100732)2.15008678
105Increased CSF protein (HP:0002922)2.13433740
106Inability to walk (HP:0002540)2.12643468
107Vascular calcification (HP:0004934)2.12377113
108Abnormal cartilage morphology (HP:0002763)2.11700846
109Shawl scrotum (HP:0000049)2.11655797
110Abnormality of the corticospinal tract (HP:0002492)2.11023844
111Hand muscle atrophy (HP:0009130)2.10671465
112Bruising susceptibility (HP:0000978)2.10562581
113Short humerus (HP:0005792)2.09182671
114Nephroblastoma (Wilms tumor) (HP:0002667)2.08865917
115Bilateral sensorineural hearing impairment (HP:0008619)2.08258177
116Rhabdomyosarcoma (HP:0002859)2.07541062
117Abnormal drinking behavior (HP:0030082)2.05604141
118Polydipsia (HP:0001959)2.05604141
119Acanthocytosis (HP:0001927)2.05074721
120Molar tooth sign on MRI (HP:0002419)2.05036687
121Abnormality of midbrain morphology (HP:0002418)2.05036687
122Abnormality of the lacrimal duct (HP:0011481)2.03266372
123Abnormality of small intestinal villus morphology (HP:0011472)2.02092003
124Villous atrophy (HP:0011473)2.02092003
125Aplasia/hypoplasia of the humerus (HP:0006507)2.02051923
126Metabolic alkalosis (HP:0200114)2.01662139
127Generalized hypopigmentation (HP:0007513)2.00707011
128Cardiovascular calcification (HP:0011915)2.00076463
129Abnormality of magnesium homeostasis (HP:0004921)1.99940299
130Absent speech (HP:0001344)1.98105575
131Progressive cerebellar ataxia (HP:0002073)1.96753018
132Abnormality of lateral ventricle (HP:0030047)1.94526655
133Aplasia/Hypoplasia of the tibia (HP:0005772)1.92808609
134Abnormality of the musculature of the hand (HP:0001421)1.92580076
135Hyperaldosteronism (HP:0000859)1.92473940
136Malnutrition (HP:0004395)1.92280802
137Anomalous pulmonary venous return (HP:0010772)1.91973344
138Adrenal hypoplasia (HP:0000835)1.91785968
139Reticulocytosis (HP:0001923)1.91549611
140Right ventricular cardiomyopathy (HP:0011663)1.91336617
141Morphological abnormality of the pyramidal tract (HP:0002062)1.88932300
142Delayed epiphyseal ossification (HP:0002663)1.88554289
143Iris hypopigmentation (HP:0007730)1.87934687
144Onycholysis (HP:0001806)1.87762436
145Protruding tongue (HP:0010808)1.87751242
146Embryonal renal neoplasm (HP:0011794)1.87034006
147Abnormality of the renal medulla (HP:0100957)1.86798501
148Rectovaginal fistula (HP:0000143)1.86319789
149Rectal fistula (HP:0100590)1.86319789
150Premature rupture of membranes (HP:0001788)1.85873444
151Hydroxyprolinuria (HP:0003080)1.85238981
152Abnormality of proline metabolism (HP:0010907)1.85238981
153Abnormality of the pulmonary veins (HP:0011718)1.85227427
154Aplasia/hypoplasia of the uterus (HP:0008684)1.85171840
155Milia (HP:0001056)1.84920547
156White forelock (HP:0002211)1.84336923
157Broad-based gait (HP:0002136)1.84052928
158Chorioretinal atrophy (HP:0000533)1.82667346
159Tubular atrophy (HP:0000092)1.81903820
160Choroideremia (HP:0001139)1.81473521
161Abolished electroretinogram (ERG) (HP:0000550)1.81447824
162Syncope (HP:0001279)1.81310011
163Abnormality of the distal phalanx of the thumb (HP:0009617)1.81166831
164True hermaphroditism (HP:0010459)1.81094270
165Amelogenesis imperfecta (HP:0000705)1.80774040
166Polyuria (HP:0000103)1.80741612
167Abnormality of chloride homeostasis (HP:0011422)1.80537121
168Widely spaced teeth (HP:0000687)1.79252487
169Hypoplasia of dental enamel (HP:0006297)1.78923365
170Increased purine levels (HP:0004368)1.77888395
171Hyperuricemia (HP:0002149)1.77888395
172Hyperglycinuria (HP:0003108)1.77665851
173Ileus (HP:0002595)1.77230073
174Nephronophthisis (HP:0000090)1.76520288
175Confusion (HP:0001289)1.76181719
176Peripheral hypomyelination (HP:0007182)1.75918829
177Atrial fibrillation (HP:0005110)1.75721660
178Intellectual disability, profound (HP:0002187)1.74853936
179Patchy hypopigmentation of hair (HP:0011365)1.73511876
180Atrophic scars (HP:0001075)1.73322658
181Poor eye contact (HP:0000817)1.72894290
182Increased density of long bones (HP:0006392)1.71412165
183Fragile nails (HP:0001808)1.71013405
184Genetic anticipation (HP:0003743)1.70580255
185Hyporeflexia of lower limbs (HP:0002600)1.68052181
186Increased corneal curvature (HP:0100692)1.66808376
187Keratoconus (HP:0000563)1.66808376
188Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.66730510
189Disproportionate short-trunk short stature (HP:0003521)1.66622737
190Focal motor seizures (HP:0011153)1.65860589
191Severe visual impairment (HP:0001141)1.65027970
192Medial flaring of the eyebrow (HP:0010747)1.64379205
193Abnormality of the ischium (HP:0003174)1.64357918

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK125.86699018
2FRK4.51088723
3GRK54.38721052
4LMTK23.41618151
5ERN13.18520732
6GRK13.05095783
7BMPR1B2.96510780
8TYRO32.79520328
9GRK62.68593261
10WNK42.61891023
11TGFBR22.59874907
12STK392.52481181
13EPHB12.50278249
14STK102.48397147
15DAPK22.27810214
16EPHA22.25066553
17WNK12.24000786
18MYLK2.18220413
19ACVR1B1.97049772
20MET1.96718293
21NTRK11.94325788
22ADRBK21.92163199
23INSRR1.90761893
24PLK21.89189229
25MATK1.88570141
26OXSR11.87933052
27EIF2AK11.82962707
28GRK71.70115127
29MAPK71.69934325
30TTK1.59604301
31TRIM281.58630658
32WNK31.53846057
33NUAK11.53804287
34TIE11.53178021
35DYRK1B1.49508029
36PAK41.48190969
37MAP4K21.47970228
38CSF1R1.45968670
39MST1R1.45863794
40PHKG21.41733235
41PHKG11.41733235
42MOS1.41027296
43PRKG21.33830591
44ZAK1.31742130
45MAP3K121.27450442
46DYRK31.22757186
47TEC1.21394587
48PTK21.20361510
49MAPKAPK31.18973637
50BMPR21.18948804
51EPHA41.17594151
52STK38L1.12806247
53DAPK11.08510163
54CDK71.08382938
55MARK21.08159852
56MST41.07026060
57PBK1.06550882
58EPHB21.05591671
59PNCK1.04878160
60PINK11.03823606
61BCR1.02564299
62NME10.94530525
63PTK60.94397529
64RIPK10.91332193
65MAP3K140.90883346
66ERBB40.90654110
67CAMK40.88842628
68FGFR30.86168186
69NTRK30.85859241
70PRKCE0.85521424
71ERBB30.83735067
72PDGFRA0.82997073
73ERBB20.82435407
74TGFBR10.81087993
75LRRK20.80763978
76KDR0.78406506
77MAP3K70.78220100
78MUSK0.77204675
79FGFR20.76850364
80TAOK30.76473485
81STK380.75808000
82ADRBK10.75239614
83ITK0.73909968
84EPHA30.73884033
85TRPM70.73647422
86CAMK2A0.73112352
87DDR20.73017760
88MAP2K10.72894569
89WEE10.72661439
90PKN10.72006488
91BMX0.71205109
92GSK3A0.71068786
93MARK30.68033537
94ICK0.68023511
95MINK10.67420203
96PIK3CG0.66712625
97MTOR0.65389746
98ILK0.65354716
99PDK20.64892831
100FER0.64848211
101CHEK20.64025045
102MAP2K20.64004721
103PDGFRB0.63297494
104MAPK130.62640493
105MAPK120.62072480
106LATS10.62040965
107MAPKAPK50.61589588
108CAMK2D0.60884434
109TNIK0.60771635
110LIMK10.60039239
111FGFR40.59932084
112TXK0.57893810
113PRKCG0.54472689
114MAP3K100.54132026
115SIK30.51117184
116DAPK30.46549432
117CDK80.46509980
118PRKCI0.46309988
119TESK20.45950587
120CAMK2B0.45456930
121TLK10.45361719
122CHUK0.45343101
123PAK10.44005659
124HIPK20.43857630
125PLK40.42925591
126ROCK10.42892675
127CSK0.42192532
128CAMK2G0.42156461
129AKT20.41618200
130NEK90.40487617
131MAP2K70.40427199
132PDK30.40100275
133PDK40.40100275
134INSR0.39916934
135TTN0.39430919
136CSNK1A1L0.39302210
137MAP3K30.38844012
138IKBKB0.38369714
139ZAP700.37971910
140PRKG10.37234567
141IGF1R0.37046878
142PDK10.36241648
143BTK0.36027952
144PRKCD0.35466737
145PAK20.35351983
146PLK10.35216723
147PTK2B0.35099867
148EIF2AK20.34210203
149FGR0.33899685
150RPS6KB20.32892266
151PRKCA0.32832233
152ROCK20.32340196
153SYK0.31819143
154PRKAA20.31095477
155MAPKAPK20.30801953
156PRKD10.30765799
157MAP3K40.30740110
158PAK30.29559989
159CHEK10.29412077
160AKT30.28319570
161BCKDK0.28292052
162PRKACB0.26837992
163SRC0.26119410
164CDC42BPA0.26107624
165DYRK1A0.25592612
166IRAK10.24696634
167CSNK1E0.20128729
168STK30.19584000

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006034.49280401
2Vitamin B6 metabolism_Homo sapiens_hsa007504.41373474
3alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.13274536
4Linoleic acid metabolism_Homo sapiens_hsa005913.08798770
5Arachidonic acid metabolism_Homo sapiens_hsa005902.79985802
6Nitrogen metabolism_Homo sapiens_hsa009102.76047790
7Platelet activation_Homo sapiens_hsa046112.61540228
8ECM-receptor interaction_Homo sapiens_hsa045122.48281987
9Ether lipid metabolism_Homo sapiens_hsa005652.30654167
10Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.30503217
11Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.29794721
12Cyanoamino acid metabolism_Homo sapiens_hsa004602.03798884
13Steroid hormone biosynthesis_Homo sapiens_hsa001402.01011359
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.00205030
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.97933853
16Salivary secretion_Homo sapiens_hsa049701.97264085
17Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.94997318
18Morphine addiction_Homo sapiens_hsa050321.91193018
19SNARE interactions in vesicular transport_Homo sapiens_hsa041301.82185213
20Small cell lung cancer_Homo sapiens_hsa052221.81888099
21Nicotine addiction_Homo sapiens_hsa050331.80434307
22Phototransduction_Homo sapiens_hsa047441.80270184
23Pentose and glucuronate interconversions_Homo sapiens_hsa000401.78820974
24Histidine metabolism_Homo sapiens_hsa003401.78309756
25Protein digestion and absorption_Homo sapiens_hsa049741.76783917
26Fructose and mannose metabolism_Homo sapiens_hsa000511.69726873
27Vitamin digestion and absorption_Homo sapiens_hsa049771.69700137
28Circadian entrainment_Homo sapiens_hsa047131.67875082
29Olfactory transduction_Homo sapiens_hsa047401.62024564
30Tight junction_Homo sapiens_hsa045301.61925597
31Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.61506156
32Serotonergic synapse_Homo sapiens_hsa047261.60762752
33Vascular smooth muscle contraction_Homo sapiens_hsa042701.59749798
34Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.56446961
35GABAergic synapse_Homo sapiens_hsa047271.49590955
36Calcium signaling pathway_Homo sapiens_hsa040201.48283551
37Glutamatergic synapse_Homo sapiens_hsa047241.46840642
38Hedgehog signaling pathway_Homo sapiens_hsa043401.43364670
39Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.34603039
40Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.33659130
41Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.32003939
42Fatty acid elongation_Homo sapiens_hsa000621.31046907
43Ovarian steroidogenesis_Homo sapiens_hsa049131.28502374
44Tryptophan metabolism_Homo sapiens_hsa003801.27909767
45Taste transduction_Homo sapiens_hsa047421.26940230
46Glycerolipid metabolism_Homo sapiens_hsa005611.25681239
47Focal adhesion_Homo sapiens_hsa045101.25570137
48Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.25389838
49Insulin secretion_Homo sapiens_hsa049111.24107205
50Gastric acid secretion_Homo sapiens_hsa049711.23843847
51Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.23321828
52Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.20677805
53beta-Alanine metabolism_Homo sapiens_hsa004101.17560947
54Gap junction_Homo sapiens_hsa045401.17365439
55Sphingolipid metabolism_Homo sapiens_hsa006001.15974550
56Propanoate metabolism_Homo sapiens_hsa006401.11051097
57Leukocyte transendothelial migration_Homo sapiens_hsa046701.09574676
58Hippo signaling pathway_Homo sapiens_hsa043901.09517361
59Regulation of actin cytoskeleton_Homo sapiens_hsa048101.09461734
60Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.09081335
61Long-term depression_Homo sapiens_hsa047301.08008912
62Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.07397486
63Glutathione metabolism_Homo sapiens_hsa004801.07339023
64Pancreatic secretion_Homo sapiens_hsa049721.06827916
65Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.06671305
66Arginine and proline metabolism_Homo sapiens_hsa003301.05107467
67Phospholipase D signaling pathway_Homo sapiens_hsa040721.02851121
68Basal cell carcinoma_Homo sapiens_hsa052171.02431262
69Renin secretion_Homo sapiens_hsa049241.01930176
70Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.00195475
71Pathways in cancer_Homo sapiens_hsa052000.99650509
72Chemical carcinogenesis_Homo sapiens_hsa052040.99330936
73Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.98888104
74Pyruvate metabolism_Homo sapiens_hsa006200.95921178
75Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.91268778
76Sulfur metabolism_Homo sapiens_hsa009200.91265286
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.90466177
78Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.88424434
79Tyrosine metabolism_Homo sapiens_hsa003500.86088577
80Bile secretion_Homo sapiens_hsa049760.85795815
81Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.85093401
82Primary bile acid biosynthesis_Homo sapiens_hsa001200.84858411
83PPAR signaling pathway_Homo sapiens_hsa033200.81620132
84Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.81212732
85Glycosaminoglycan degradation_Homo sapiens_hsa005310.80572802
86Galactose metabolism_Homo sapiens_hsa000520.80567125
87Axon guidance_Homo sapiens_hsa043600.79184260
88Phosphatidylinositol signaling system_Homo sapiens_hsa040700.78858731
89Dorso-ventral axis formation_Homo sapiens_hsa043200.78674461
90PI3K-Akt signaling pathway_Homo sapiens_hsa041510.78138851
91Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.77095780
92Amoebiasis_Homo sapiens_hsa051460.76767579
93Circadian rhythm_Homo sapiens_hsa047100.75952429
94Synaptic vesicle cycle_Homo sapiens_hsa047210.75353060
95Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.74348463
96Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.72478816
97Rap1 signaling pathway_Homo sapiens_hsa040150.71899628
98MicroRNAs in cancer_Homo sapiens_hsa052060.71402397
99Adherens junction_Homo sapiens_hsa045200.70835784
100Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.70816744
101Aldosterone synthesis and secretion_Homo sapiens_hsa049250.70543414
102ABC transporters_Homo sapiens_hsa020100.70347090
103Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.70123149
1042-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.69363569
105Dopaminergic synapse_Homo sapiens_hsa047280.69314879
106Proteoglycans in cancer_Homo sapiens_hsa052050.68561113
107cGMP-PKG signaling pathway_Homo sapiens_hsa040220.68298420
108N-Glycan biosynthesis_Homo sapiens_hsa005100.67464224
109Dilated cardiomyopathy_Homo sapiens_hsa054140.67341292
110Collecting duct acid secretion_Homo sapiens_hsa049660.67188458
111Ras signaling pathway_Homo sapiens_hsa040140.66338559
112Fatty acid metabolism_Homo sapiens_hsa012120.66091655
113cAMP signaling pathway_Homo sapiens_hsa040240.65932853
114Mineral absorption_Homo sapiens_hsa049780.65644605
115Butanoate metabolism_Homo sapiens_hsa006500.64504829
116Toxoplasmosis_Homo sapiens_hsa051450.64156181
117Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.64146662
118Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.63846017
119Cholinergic synapse_Homo sapiens_hsa047250.62898015
120Phenylalanine metabolism_Homo sapiens_hsa003600.62490125
121Oxytocin signaling pathway_Homo sapiens_hsa049210.60322806
122Bladder cancer_Homo sapiens_hsa052190.58630947
123Fatty acid degradation_Homo sapiens_hsa000710.58621270
124Inositol phosphate metabolism_Homo sapiens_hsa005620.53635868
125Choline metabolism in cancer_Homo sapiens_hsa052310.53380483
126Amphetamine addiction_Homo sapiens_hsa050310.52245713
127Selenocompound metabolism_Homo sapiens_hsa004500.51455615
128Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.51204415
129Carbon metabolism_Homo sapiens_hsa012000.51155736
130Other glycan degradation_Homo sapiens_hsa005110.50610894
131Steroid biosynthesis_Homo sapiens_hsa001000.50505489
132Hematopoietic cell lineage_Homo sapiens_hsa046400.49741422
133Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.44459231
134Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.44233232
135Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.44027881
136Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.43638025
137Sphingolipid signaling pathway_Homo sapiens_hsa040710.42210023
138Purine metabolism_Homo sapiens_hsa002300.41800617
139Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.41221219
140Melanoma_Homo sapiens_hsa052180.40996432
141Thyroid cancer_Homo sapiens_hsa052160.39825849
142Folate biosynthesis_Homo sapiens_hsa007900.39743747
143Arginine biosynthesis_Homo sapiens_hsa002200.39611978
144Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.39575018
145Homologous recombination_Homo sapiens_hsa034400.37832200
146Jak-STAT signaling pathway_Homo sapiens_hsa046300.37734580
147Fatty acid biosynthesis_Homo sapiens_hsa000610.36748469
148Endocytosis_Homo sapiens_hsa041440.36288371
149Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.34937651
150Lysine degradation_Homo sapiens_hsa003100.34883801
151Notch signaling pathway_Homo sapiens_hsa043300.34631132
152Metabolic pathways_Homo sapiens_hsa011000.34259766
153Cysteine and methionine metabolism_Homo sapiens_hsa002700.34179403
154Transcriptional misregulation in cancer_Homo sapiens_hsa052020.34023975
155Thyroid hormone signaling pathway_Homo sapiens_hsa049190.33403149
156Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.32431587
157Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.32271980

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