ISM2

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





Description: The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1very-low-density lipoprotein particle assembly (GO:0034379)7.47565558
2negative regulation of telomerase activity (GO:0051974)7.17280311
3plasma lipoprotein particle assembly (GO:0034377)7.03603731
4low-density lipoprotein particle remodeling (GO:0034374)7.01828118
5peptidyl-glutamic acid carboxylation (GO:0017187)6.90589484
6protein carboxylation (GO:0018214)6.90589484
7negative regulation of fibrinolysis (GO:0051918)6.84754863
8negative regulation of keratinocyte proliferation (GO:0010839)6.67269366
9transcription from mitochondrial promoter (GO:0006390)6.60636567
10intestinal cholesterol absorption (GO:0030299)6.54812257
11estrogen biosynthetic process (GO:0006703)6.51109435
12protein-lipid complex assembly (GO:0065005)6.23295771
13response to follicle-stimulating hormone (GO:0032354)6.06391041
14negative regulation of calcium ion-dependent exocytosis (GO:0045955)6.06031103
15regulation of apoptotic cell clearance (GO:2000425)5.70946962
16plasma lipoprotein particle remodeling (GO:0034369)5.69985835
17protein-lipid complex remodeling (GO:0034368)5.69985835
18macromolecular complex remodeling (GO:0034367)5.69985835
19regulation of fibrinolysis (GO:0051917)5.64864988
20cholesterol efflux (GO:0033344)5.50251685
21plasma lipoprotein particle organization (GO:0071827)5.49000221
22regulation of protein activation cascade (GO:2000257)5.44896489
23regulation of complement activation (GO:0030449)5.42602612
24regulation of cholesterol esterification (GO:0010872)5.37730584
25proline biosynthetic process (GO:0006561)5.36471006
26high-density lipoprotein particle remodeling (GO:0034375)5.23752724
27regulation of mammary gland epithelial cell proliferation (GO:0033599)5.23468685
28protein-lipid complex subunit organization (GO:0071825)5.14565789
29polyketide metabolic process (GO:0030638)5.08502240
30doxorubicin metabolic process (GO:0044598)5.08502240
31daunorubicin metabolic process (GO:0044597)5.08502240
32plasma lipoprotein particle clearance (GO:0034381)4.98263587
33triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.94780019
34negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)4.86768171
35reverse cholesterol transport (GO:0043691)4.76609374
36pattern specification involved in kidney development (GO:0061004)4.76133773
37proline metabolic process (GO:0006560)4.72506895
38vitamin transmembrane transport (GO:0035461)4.72285613
39histone H4-K12 acetylation (GO:0043983)4.68835726
40regulation of plasminogen activation (GO:0010755)4.62619708
41lung epithelium development (GO:0060428)4.61218485
42regulation of cholesterol homeostasis (GO:2000188)4.57417962
43mitochondrial DNA metabolic process (GO:0032042)4.53691179
44blood coagulation, intrinsic pathway (GO:0007597)4.53298645
45intestinal absorption (GO:0050892)4.50427142
46vitamin A metabolic process (GO:0006776)4.49930467
47low-density lipoprotein particle clearance (GO:0034383)4.49141207
48negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)4.40355758
49negative regulation of cell cycle G2/M phase transition (GO:1902750)4.30683746
50embryonic process involved in female pregnancy (GO:0060136)4.30029517
51regulation of telomerase activity (GO:0051972)4.24872196
52negative regulation of protein activation cascade (GO:2000258)4.24578130
53interferon-gamma production (GO:0032609)4.24345808
54maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)4.13285953
55regulation of cholesterol biosynthetic process (GO:0045540)4.07766556
56lipoprotein metabolic process (GO:0042157)4.07472987
57embryonic placenta development (GO:0001892)4.07168348
58cell fate commitment involved in formation of primary germ layer (GO:0060795)4.06363151
59regulation of acrosome reaction (GO:0060046)4.04963486
60receptor recycling (GO:0001881)4.02915203
61muscle organ morphogenesis (GO:0048644)4.01760861
62DNA strand renaturation (GO:0000733)4.00028424
63replication fork processing (GO:0031297)3.99845776
64proximal/distal pattern formation (GO:0009954)3.98010586
65establishment of apical/basal cell polarity (GO:0035089)3.96986434
66somite rostral/caudal axis specification (GO:0032525)3.93218530
67nephron epithelium morphogenesis (GO:0072088)3.93069037
68nephron tubule morphogenesis (GO:0072078)3.93069037
69DNA replication checkpoint (GO:0000076)3.92177754
70mitotic sister chromatid segregation (GO:0000070)3.90339244
71somatic hypermutation of immunoglobulin genes (GO:0016446)3.89576553
72somatic diversification of immune receptors via somatic mutation (GO:0002566)3.89576553
73establishment or maintenance of monopolar cell polarity (GO:0061339)3.84368750
74establishment of monopolar cell polarity (GO:0061162)3.84368750
75regulation of gene silencing by RNA (GO:0060966)3.76553300
76regulation of posttranscriptional gene silencing (GO:0060147)3.76553300
77regulation of gene silencing by miRNA (GO:0060964)3.76553300
78regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.76378806
79nodal signaling pathway (GO:0038092)3.73434974
80positive regulation of hormone metabolic process (GO:0032352)3.72892346
81basement membrane organization (GO:0071711)3.72753166
82regulation of integrin activation (GO:0033623)3.69649341
83androgen biosynthetic process (GO:0006702)3.68405466
84L-phenylalanine catabolic process (GO:0006559)3.67423206
85erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.67423206
86regulation of double-strand break repair via homologous recombination (GO:0010569)3.66961980
87positive regulation of hemostasis (GO:1900048)3.66540121
88positive regulation of blood coagulation (GO:0030194)3.66540121
89sterol transport (GO:0015918)3.64520307
90cholesterol transport (GO:0030301)3.64520307
91branching involved in mammary gland duct morphogenesis (GO:0060444)3.62156278
92negative regulation of cholesterol transport (GO:0032375)3.62022684
93negative regulation of sterol transport (GO:0032372)3.62022684
94positive regulation of protein homooligomerization (GO:0032464)3.59989586
95regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.59881651
96segment specification (GO:0007379)3.59390643
97mitotic metaphase plate congression (GO:0007080)3.56843947
98negative regulation of complement activation (GO:0045916)3.56057772
99negative regulation of DNA biosynthetic process (GO:2000279)3.55999182
100regulation of bile acid biosynthetic process (GO:0070857)3.55544266
101diacylglycerol metabolic process (GO:0046339)3.55383706
102telomere maintenance via telomerase (GO:0007004)3.55205780
103trophectodermal cell differentiation (GO:0001829)3.52178415
104DNA replication-dependent nucleosome assembly (GO:0006335)3.51752349
105DNA replication-dependent nucleosome organization (GO:0034723)3.51752349
106anterior/posterior axis specification, embryo (GO:0008595)3.51255878
107erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.50956892
108L-phenylalanine metabolic process (GO:0006558)3.50956892
109cholesterol homeostasis (GO:0042632)3.49649968
110regulation of nuclear cell cycle DNA replication (GO:0033262)3.48393804
111maintenance of protein location in nucleus (GO:0051457)3.48264978
112sterol homeostasis (GO:0055092)3.48096981
113cellular response to ATP (GO:0071318)3.46577592
114kinetochore assembly (GO:0051382)3.46555613
115cell migration involved in gastrulation (GO:0042074)3.44868879
116heterochromatin organization (GO:0070828)3.44708425
117modified amino acid transport (GO:0072337)3.43591105
118regulation of double-strand break repair (GO:2000779)3.43171826
119negative regulation of sodium ion transport (GO:0010766)3.42971891
120positive regulation of hormone biosynthetic process (GO:0046886)3.42288638
121DNA integration (GO:0015074)3.40808171
122positive regulation of steroid metabolic process (GO:0045940)3.38288856
123positive regulation of extracellular matrix organization (GO:1903055)3.37367858
124positive regulation of coagulation (GO:0050820)3.36160968
125dicarboxylic acid biosynthetic process (GO:0043650)3.30016050
126negative regulation of viral release from host cell (GO:1902187)3.28338010
127regulation of hippo signaling (GO:0035330)3.26870570
128pinocytosis (GO:0006907)3.26331393
129regulation of intracellular estrogen receptor signaling pathway (GO:0033146)3.25045419
130peptidyl-glutamic acid modification (GO:0018200)3.24866519
131drug transmembrane transport (GO:0006855)3.24706976
132glutamate metabolic process (GO:0006536)3.24161527
133cellular response to follicle-stimulating hormone stimulus (GO:0071372)3.24017995
134rRNA transcription (GO:0009303)3.23873458
135convergent extension (GO:0060026)3.23659366
136notochord development (GO:0030903)3.22930131
137female pregnancy (GO:0007565)3.22268989
138keratinocyte development (GO:0003334)3.22140644
139cellular zinc ion homeostasis (GO:0006882)3.20082399
140regulation of protein homooligomerization (GO:0032462)3.17886026
141histone H4-K5 acetylation (GO:0043981)3.17718452
142histone H4-K8 acetylation (GO:0043982)3.17718452
143endocardial cushion development (GO:0003197)3.16839124
144determination of adult lifespan (GO:0008340)3.16223387
145positive regulation of developmental pigmentation (GO:0048087)3.15929766
146complement activation, alternative pathway (GO:0006957)3.14986461
147negative regulation of norepinephrine secretion (GO:0010700)3.13841052
148mitochondrial DNA replication (GO:0006264)3.13729886
149retinoic acid receptor signaling pathway (GO:0048384)3.13235867
150negative regulation of epidermis development (GO:0045683)3.11921400
151regulation of non-canonical Wnt signaling pathway (GO:2000050)3.10978706
152phospholipid efflux (GO:0033700)3.06292626
153positive regulation of DNA-dependent DNA replication (GO:2000105)3.05697291
154sister chromatid segregation (GO:0000819)3.05056224
155protein localization to kinetochore (GO:0034501)3.03962904
156primitive streak formation (GO:0090009)3.03500334
157DNA topological change (GO:0006265)3.02456142
158aminoglycoside antibiotic metabolic process (GO:0030647)2.99832142
159cell proliferation involved in metanephros development (GO:0072203)2.99416290
160sulfate transport (GO:0008272)2.99132282
161acute-phase response (GO:0006953)2.98738031
162intestinal epithelial cell development (GO:0060576)2.98271935
163negative regulation of lipase activity (GO:0060192)2.98248735
1644-hydroxyproline metabolic process (GO:0019471)2.98065428
165renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)2.95883991
166embryonic retina morphogenesis in camera-type eye (GO:0060059)2.95618233
167regulation of response to osmotic stress (GO:0047484)2.93203599
168regulation of telomere maintenance via telomerase (GO:0032210)2.93143414
169regulation of cholesterol metabolic process (GO:0090181)2.91774384
170cell-cell junction maintenance (GO:0045217)2.91513863
171positive regulation of osteoblast proliferation (GO:0033690)2.91508740
172positive regulation of male gonad development (GO:2000020)2.91408325
173lipid homeostasis (GO:0055088)2.91284482
174negative regulation of cell-matrix adhesion (GO:0001953)2.90883434
175response to gonadotropin (GO:0034698)2.90760343
176positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.90113609
177endocrine hormone secretion (GO:0060986)2.89330707
178regulation of norepinephrine secretion (GO:0014061)2.87910494
179regulation of steroid hormone biosynthetic process (GO:0090030)2.87695281
180embryonic camera-type eye development (GO:0031076)2.87643545
181poly(A)+ mRNA export from nucleus (GO:0016973)2.86505137
182intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)2.85958097
183histone arginine methylation (GO:0034969)2.85826825
184DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.85209458
185spinal cord development (GO:0021510)2.83427878
186trivalent inorganic anion homeostasis (GO:0072506)2.82968519
187phosphate ion homeostasis (GO:0055062)2.82968519
188regulation of humoral immune response (GO:0002920)2.82621659
189mitotic G1 DNA damage checkpoint (GO:0031571)2.82529617
190acylglycerol homeostasis (GO:0055090)2.82100864
191triglyceride homeostasis (GO:0070328)2.82100864
192branching involved in labyrinthine layer morphogenesis (GO:0060670)2.81997197
193negative regulation of androgen receptor signaling pathway (GO:0060766)2.79810196
194positive regulation of fatty acid biosynthetic process (GO:0045723)2.79609851
195transepithelial transport (GO:0070633)2.79234619
196head development (GO:0060322)2.78318894
197apoptotic process involved in morphogenesis (GO:0060561)2.78143598
198regulation of keratinocyte proliferation (GO:0010837)2.78059223

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse7.72406107
2KLF2_18264089_ChIP-ChIP_MESCs_Mouse5.45537835
3KLF5_18264089_ChIP-ChIP_MESCs_Mouse5.45537835
4KLF4_18264089_ChIP-ChIP_MESCs_Mouse5.45537835
5FOXA2_19822575_ChIP-Seq_HepG2_Human4.36256481
6RXR_22158963_ChIP-Seq_LIVER_Mouse4.19759134
7NACC1_18358816_ChIP-ChIP_MESCs_Mouse3.79375017
8HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.69794169
9PPARA_22158963_ChIP-Seq_LIVER_Mouse3.66845394
10ZNF263_19887448_ChIP-Seq_K562_Human3.63739318
11LXR_22158963_ChIP-Seq_LIVER_Mouse3.57536014
12SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.56821101
13MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human3.52747406
14SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.46795205
15ZFP281_18358816_ChIP-ChIP_MESCs_Mouse3.38397551
16SOX2_18358816_ChIP-ChIP_MESCs_Mouse3.21156693
17RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.10267588
18E2F7_22180533_ChIP-Seq_HELA_Human3.07425059
19TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.07371930
20TCF3_18692474_ChIP-Seq_MESCs_Mouse3.03471135
21HNF4A_19822575_ChIP-Seq_HepG2_Human2.99412451
22NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.99104737
23TCF3_18692474_ChIP-Seq_MEFs_Mouse2.77816032
24HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.65925177
25POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.63576960
26PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.55353921
27FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.49677788
28SALL1_21062744_ChIP-ChIP_HESCs_Human2.47746124
29TP63_19390658_ChIP-ChIP_HaCaT_Human2.44491155
30NR0B1_18358816_ChIP-ChIP_MESCs_Mouse2.41366069
31THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.36992208
32POU5F1_16518401_ChIP-PET_MESCs_Mouse2.34930774
33IKZF1_21737484_ChIP-ChIP_HCT116_Human2.31976853
34CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.31713512
35NANOG_18358816_ChIP-ChIP_MESCs_Mouse2.31481500
36SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.29097364
37RARG_19884340_ChIP-ChIP_MEFs_Mouse2.25652869
38KLF4_18358816_ChIP-ChIP_MESCs_Mouse2.21485593
39STAT3_1855785_ChIP-Seq_MESCs_Mouse2.14199680
40CLOCK_20551151_ChIP-Seq_293T_Human2.07599245
41SREBP1_19666523_ChIP-Seq_LIVER_Mouse2.04611726
42HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.00975044
43NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.98990634
44FOXO3_23340844_ChIP-Seq_DLD1_Human1.96758398
45ZFP281_18757296_ChIP-ChIP_E14_Mouse1.91843261
46ESR2_21235772_ChIP-Seq_MCF-7_Human1.89307370
47EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.85876897
48FOXM1_23109430_ChIP-Seq_U2OS_Human1.82768378
49PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.80731745
50AR_21909140_ChIP-Seq_LNCAP_Human1.79560671
51ESR1_20079471_ChIP-ChIP_T-47D_Human1.79393109
52NOTCH1_21737748_ChIP-Seq_TLL_Human1.78837811
53MYC_19079543_ChIP-ChIP_MESCs_Mouse1.78679237
54RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.78265151
55ZFP281_27345836_Chip-Seq_ESCs_Mouse1.77681980
56POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.75318887
57ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.71884864
58TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.70739214
59TP63_17297297_ChIP-ChIP_HaCaT_Human1.70531127
60GATA4_25053715_ChIP-Seq_YYC3_Human1.68468042
61TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.67778436
62SALL4_18804426_ChIP-ChIP_XEN_Mouse1.65257145
63NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.64162003
64NANOG_18692474_ChIP-Seq_MESCs_Mouse1.62569929
65FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.60128863
66AR_21572438_ChIP-Seq_LNCaP_Human1.59525188
67MYC_18555785_ChIP-Seq_MESCs_Mouse1.59522178
68TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58880927
69POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.57038375
70SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.55803767
71PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.55367170
72TCF4_18268006_ChIP-ChIP_LS174T_Human1.55091609
73TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.54899602
74ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.53193233
75ESR1_21235772_ChIP-Seq_MCF-7_Human1.52191108
76EGR1_23403033_ChIP-Seq_LIVER_Mouse1.50244446
77PPAR_26484153_Chip-Seq_NCI-H1993_Human1.50190717
78SOX2_18692474_ChIP-Seq_MESCs_Mouse1.49558255
79ERG_21242973_ChIP-ChIP_JURKAT_Human1.48269524
80CDX2_20551321_ChIP-Seq_CACO-2_Human1.46493524
81DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.43677832
82E2F4_17652178_ChIP-ChIP_JURKAT_Human1.41913665
83TP53_20018659_ChIP-ChIP_R1E_Mouse1.40171930
84GATA6_25053715_ChIP-Seq_YYC3_Human1.38953660
85NANOG_16518401_ChIP-PET_MESCs_Mouse1.38599965
86PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.38175735
87RING1B_27294783_Chip-Seq_NPCs_Mouse1.36530913
88SOX2_18555785_ChIP-Seq_MESCs_Mouse1.34414092
89NANOG_18555785_ChIP-Seq_MESCs_Mouse1.34027058
90CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.33411992
91ESR1_15608294_ChIP-ChIP_MCF-7_Human1.31744360
92MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.26728705
93RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.26083189
94TRIM28_21343339_ChIP-Seq_HEK293_Human1.25768243
95SOX2_27498859_Chip-Seq_STOMACH_Mouse1.23770405
96NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.23111502
97SOX2_18692474_ChIP-Seq_MEFs_Mouse1.22827276
98NANOG_21062744_ChIP-ChIP_HESCs_Human1.22645127
99NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.21569842
100GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.20329562
101SMC4_20622854_ChIP-Seq_HELA_Human1.19171673
102NANOG_18692474_ChIP-Seq_MEFs_Mouse1.18895236
103CTNNB1_20460455_ChIP-Seq_HCT116_Human1.16939481
104YY1_21170310_ChIP-Seq_MESCs_Mouse1.15182221
105OCT4_18692474_ChIP-Seq_MEFs_Mouse1.15040080
106TET1_21451524_ChIP-Seq_MESCs_Mouse1.14713384
107KAP1_27257070_Chip-Seq_ESCs_Mouse1.14557203
108HIF1A_21447827_ChIP-Seq_MCF-7_Human1.13892563
109PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.13183497
110MYC_18358816_ChIP-ChIP_MESCs_Mouse1.12217979
111STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.12209227
112BP1_19119308_ChIP-ChIP_Hs578T_Human1.11635826
113ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.11261652
114TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.10666739
115KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.10453527
116KDM2B_26808549_Chip-Seq_K562_Human1.08901457
117RACK7_27058665_Chip-Seq_MCF-7_Human1.08853398
118NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.08505663
119CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.08471128
120YY1_22570637_ChIP-Seq_MALME-3M_Human1.07382957
121CDX2_19796622_ChIP-Seq_MESCs_Mouse1.07350889
122LXR_22292898_ChIP-Seq_THP-1_Human1.06137823
123POU5F1_16153702_ChIP-ChIP_HESCs_Human1.05099097
124RARA_24833708_ChIP-Seq_LIVER_Mouse1.04077702
125MYC_19030024_ChIP-ChIP_MESCs_Mouse1.03353129
126WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.01147843
127SPI1_26923725_Chip-Seq_HPCs_Mouse1.01034648
128TP53_22127205_ChIP-Seq_IMR90_Human0.99973678
129RNF2_27304074_Chip-Seq_NSC_Mouse0.99582630
130SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.97719502
131POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.97614383
132NFIB_24661679_ChIP-Seq_LUNG_Mouse0.97320843
133SOX9_24532713_ChIP-Seq_HFSC_Mouse0.97302677
134KDM2B_26808549_Chip-Seq_SUP-B15_Human0.95857936
135FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.93367878
136CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.93297016
137STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.93153209
138MYC_22102868_ChIP-Seq_BL_Human0.92899068
139DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.91383276
140* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.90772279
141SRY_22984422_ChIP-ChIP_TESTIS_Rat0.90208464
142UBF1/2_26484160_Chip-Seq_HMECs_Human0.89796431
143RXRA_24833708_ChIP-Seq_LIVER_Mouse0.89305460
144SOX2_20726797_ChIP-Seq_SW620_Human0.87264945
145CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.86933366
146IRF1_19129219_ChIP-ChIP_H3396_Human0.86868273
147RBPJ_22232070_ChIP-Seq_NCS_Mouse0.85555365
148P53_22127205_ChIP-Seq_FIBROBLAST_Human0.85206214
149CSB_26484114_Chip-Seq_FIBROBLAST_Human0.84004529
150SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.83136939
151GATA3_24758297_ChIP-Seq_MCF-7_Human0.81953381
152P68_20966046_ChIP-Seq_HELA_Human0.81067110
153EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.80560316
154STAT3_18555785_ChIP-Seq_MESCs_Mouse0.80440073
155STAT6_21828071_ChIP-Seq_BEAS2B_Human0.80248912
156TBX3_20139965_ChIP-Seq_ESCs_Mouse0.78399446
157ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.78352104
158E2F1_17053090_ChIP-ChIP_MCF-7_Human0.78303394
159TBX3_20139965_ChIP-Seq_MESCs_Mouse0.76470013
160BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.76421470
161NANOG_16153702_ChIP-ChIP_HESCs_Human0.76061443
162KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.75790627
163RARB_24833708_ChIP-Seq_LIVER_Mouse0.74868429
164CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.74262820
165ATF3_27146783_Chip-Seq_COLON_Human0.73945610
166SOX11_22085726_ChIP-Seq_ESNs_Mouse0.73903914
167SOX17_20123909_ChIP-Seq_XEN_Mouse0.72381852
168NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.72381379
169FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.70712159
170SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.69834994
171SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.69417148
172UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.69410594
173STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.67731985
174RUNX1_27514584_Chip-Seq_MCF-7_Human0.67337874
175MITF_21258399_ChIP-Seq_MELANOMA_Human0.66856198
176DNAJC2_21179169_ChIP-ChIP_NT2_Human0.66353838
177MYC_27129775_Chip-Seq_CORNEA_Mouse0.66174343

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system4.40116034
2MP0003011_delayed_dark_adaptation4.23087410
3MP0003283_abnormal_digestive_organ4.13331052
4MP0008057_abnormal_DNA_replication4.12529611
5MP0010329_abnormal_lipoprotein_level3.38528844
6MP0010030_abnormal_orbit_morphology3.32957339
7MP0006292_abnormal_olfactory_placode3.23499187
8MP0004133_heterotaxia3.22374582
9MP0005365_abnormal_bile_salt3.18608112
10MP0003890_abnormal_embryonic-extraembry3.14328497
11MP0001666_abnormal_nutrient_absorption3.13675259
12MP0003195_calcinosis3.09987908
13MP0008875_abnormal_xenobiotic_pharmacok2.87593439
14MP0009697_abnormal_copulation2.65976576
15MP0003183_abnormal_peptide_metabolism2.58552011
16MP0002089_abnormal_postnatal_growth/wei2.50976534
17MP0004264_abnormal_extraembryonic_tissu2.35693533
18MP0006054_spinal_hemorrhage2.30249479
19MP0001293_anophthalmia2.29813144
20MP0004142_abnormal_muscle_tone2.26463195
21MP0004957_abnormal_blastocyst_morpholog2.26301294
22MP0000003_abnormal_adipose_tissue2.25693751
23MP0002876_abnormal_thyroid_physiology2.25628808
24MP0000678_abnormal_parathyroid_gland2.13283407
25MP0003119_abnormal_digestive_system2.08364219
26MP0005058_abnormal_lysosome_morphology2.07837107
27MP0005075_abnormal_melanosome_morpholog2.02345728
28MP0002249_abnormal_larynx_morphology2.01546453
29MP0005171_absent_coat_pigmentation1.99017433
30MP0002653_abnormal_ependyma_morphology1.98856737
31MP0002254_reproductive_system_inflammat1.98044945
32MP0005379_endocrine/exocrine_gland_phen1.94378855
33MP0005670_abnormal_white_adipose1.89960906
34MP0000762_abnormal_tongue_morphology1.88847699
35MP0003111_abnormal_nucleus_morphology1.86349759
36MP0005408_hypopigmentation1.84369590
37MP0005394_taste/olfaction_phenotype1.80997095
38MP0005499_abnormal_olfactory_system1.80997095
39MP0002163_abnormal_gland_morphology1.79378898
40MP0005360_urolithiasis1.78511922
41MP0001915_intracranial_hemorrhage1.76990297
42MP0010094_abnormal_chromosome_stability1.75477531
43MP0003567_abnormal_fetal_cardiomyocyte1.75325440
44MP0002332_abnormal_exercise_endurance1.74709744
45MP0005257_abnormal_intraocular_pressure1.72837217
46MP0005085_abnormal_gallbladder_physiolo1.72797204
47MP0000579_abnormal_nail_morphology1.68276944
48MP0003252_abnormal_bile_duct1.60215262
49MP0003172_abnormal_lysosome_physiology1.59058257
50MP0008932_abnormal_embryonic_tissue1.58569104
51MP0009780_abnormal_chondrocyte_physiolo1.57287704
52MP0004272_abnormal_basement_membrane1.55415504
53MP0003315_abnormal_perineum_morphology1.53473198
54MP0002084_abnormal_developmental_patter1.52221346
55MP0002085_abnormal_embryonic_tissue1.50060336
56MP0005409_darkened_coat_color1.49824194
57MP0009384_cardiac_valve_regurgitation1.49485261
58MP0005451_abnormal_body_composition1.49482405
59MP0010352_gastrointestinal_tract_polyps1.48366704
60MP0003941_abnormal_skin_development1.47925239
61MP0003786_premature_aging1.45024848
62MP0010368_abnormal_lymphatic_system1.43820810
63MP0008058_abnormal_DNA_repair1.42410768
64MP0002932_abnormal_joint_morphology1.42018020
65MP0005380_embryogenesis_phenotype1.41020978
66MP0001672_abnormal_embryogenesis/_devel1.41020978
67MP0004858_abnormal_nervous_system1.40168146
68MP0000049_abnormal_middle_ear1.40013171
69MP0005623_abnormal_meninges_morphology1.39427454
70MP0004197_abnormal_fetal_growth/weight/1.38290283
71MP0002092_abnormal_eye_morphology1.37899555
72MP0002086_abnormal_extraembryonic_tissu1.37704091
73MP0003938_abnormal_ear_development1.37633583
74MP0000609_abnormal_liver_physiology1.37154485
75MP0005377_hearing/vestibular/ear_phenot1.36177655
76MP0003878_abnormal_ear_physiology1.36177655
77MP0004019_abnormal_vitamin_homeostasis1.35285172
78MP0000490_abnormal_crypts_of1.34838703
79MP0003942_abnormal_urinary_system1.34497166
80MP0003755_abnormal_palate_morphology1.32680555
81MP0003935_abnormal_craniofacial_develop1.28845608
82MP0002132_abnormal_respiratory_system1.28352064
83MP0002111_abnormal_tail_morphology1.28289006
84MP0002114_abnormal_axial_skeleton1.27209810
85MP0005389_reproductive_system_phenotype1.26065927
86MP0002160_abnormal_reproductive_system1.25696940
87MP0000432_abnormal_head_morphology1.25361783
88MP0001661_extended_life_span1.24746305
89MP0002118_abnormal_lipid_homeostasis1.24508511
90MP0001849_ear_inflammation1.24160083
91MP0006072_abnormal_retinal_apoptosis1.23819041
92MP0005375_adipose_tissue_phenotype1.22921509
93MP0003077_abnormal_cell_cycle1.20762312
94MP0003115_abnormal_respiratory_system1.19349951
95MP0005647_abnormal_sex_gland1.18246878
96MP0000013_abnormal_adipose_tissue1.18168923
97MP0009115_abnormal_fat_cell1.16426647
98MP0002796_impaired_skin_barrier1.15510945
99MP0003950_abnormal_plasma_membrane1.15505164
100MP0005248_abnormal_Harderian_gland1.15254699
101MP0003868_abnormal_feces_composition1.15173158
102MP0002909_abnormal_adrenal_gland1.14102694
103MP0005076_abnormal_cell_differentiation1.14057774
104MP0000639_abnormal_adrenal_gland1.13223118
105MP0002116_abnormal_craniofacial_bone1.12366502
106MP0002233_abnormal_nose_morphology1.10211748
107MP0000350_abnormal_cell_proliferation1.09422699
108MP0009053_abnormal_anal_canal1.08539381
109MP0004233_abnormal_muscle_weight1.07812470
110MP0003122_maternal_imprinting1.07065092
111MP0003705_abnormal_hypodermis_morpholog1.06889783
112MP0002088_abnormal_embryonic_growth/wei1.03718783
113MP0003984_embryonic_growth_retardation1.03169399
114MP0002127_abnormal_cardiovascular_syste1.02982857
115MP0000566_synostosis0.99483906
116MP0001919_abnormal_reproductive_system0.97587146
117MP0009278_abnormal_bone_marrow0.97349859
118MP0001697_abnormal_embryo_size0.96641911
119MP0005167_abnormal_blood-brain_barrier0.95609991
120MP0005332_abnormal_amino_acid0.94861324
121MP0005508_abnormal_skeleton_morphology0.94828330
122MP0000598_abnormal_liver_morphology0.93780472
123MP0001270_distended_abdomen0.93636341
124MP0002751_abnormal_autonomic_nervous0.93322353
125MP0005391_vision/eye_phenotype0.91822274
126MP0000383_abnormal_hair_follicle0.91633586
127MP0008789_abnormal_olfactory_epithelium0.90513781
128MP0003121_genomic_imprinting0.89146155
129MP0000955_abnormal_spinal_cord0.87300325
130MP0002971_abnormal_brown_adipose0.86966521
131MP0003453_abnormal_keratinocyte_physiol0.86795769
132MP0002282_abnormal_trachea_morphology0.85959170
133MP0004185_abnormal_adipocyte_glucose0.84326437
134MP0000462_abnormal_digestive_system0.83121656
135MP0008995_early_reproductive_senescence0.82759258
136MP0005266_abnormal_metabolism0.82668782
137MP0002080_prenatal_lethality0.82335229
138MP0009840_abnormal_foam_cell0.81967525
139MP0002697_abnormal_eye_size0.81299453
140MP0005636_abnormal_mineral_homeostasis0.81153898
141MP0003566_abnormal_cell_adhesion0.81002532
142MP0002938_white_spotting0.80607367
143MP0003943_abnormal_hepatobiliary_system0.80215587
144MP0001730_embryonic_growth_arrest0.80120479
145MP0001286_abnormal_eye_development0.78840460
146MP0003861_abnormal_nervous_system0.78498774
147MP0002081_perinatal_lethality0.78112847
148MP0005501_abnormal_skin_physiology0.76595266
149MP0003123_paternal_imprinting0.73877396
150MP0003718_maternal_effect0.73555940
151MP0003137_abnormal_impulse_conducting0.73084947
152MP0002396_abnormal_hematopoietic_system0.72689974
153MP0008770_decreased_survivor_rate0.72461124
154MP0005645_abnormal_hypothalamus_physiol0.72329081
155MP0009672_abnormal_birth_weight0.71994980
156MP0001340_abnormal_eyelid_morphology0.71409734
157MP0002234_abnormal_pharynx_morphology0.70357059
158MP0005666_abnormal_adipose_tissue0.69089945
159MP0005410_abnormal_fertilization0.68705287
160MP0005319_abnormal_enzyme/_coenzyme0.68646435
161MP0004043_abnormal_pH_regulation0.68037890
162MP0009642_abnormal_blood_homeostasis0.65285483
163MP0003632_abnormal_nervous_system0.65157689
164MP0002970_abnormal_white_adipose0.63796411
165MP0003953_abnormal_hormone_level0.63096101
166MP0005023_abnormal_wound_healing0.61983257
167MP0000767_abnormal_smooth_muscle0.61602100
168MP0002933_joint_inflammation0.61584527
169MP0003879_abnormal_hair_cell0.60524848
170MP0001756_abnormal_urination0.60431345
171MP0003699_abnormal_female_reproductive0.60255372
172MP0003936_abnormal_reproductive_system0.55073375
173MP0000681_abnormal_thyroid_gland0.54952730
174MP0001764_abnormal_homeostasis0.54360437
175MP0003385_abnormal_body_wall0.54152404
176MP0005084_abnormal_gallbladder_morpholo0.53124408
177MP0002075_abnormal_coat/hair_pigmentati0.52668268
178MP0002128_abnormal_blood_circulation0.52645927
179MP0000534_abnormal_ureter_morphology0.52597113
180MP0005464_abnormal_platelet_physiology0.52366252

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)9.39358163
2Rib fusion (HP:0000902)6.37198963
3Prolonged partial thromboplastin time (HP:0003645)6.06261064
4Joint hemorrhage (HP:0005261)5.54458301
5Small epiphyses (HP:0010585)5.08622811
6Hypochromic microcytic anemia (HP:0004840)4.81279654
7Rectal fistula (HP:0100590)4.63623547
8Rectovaginal fistula (HP:0000143)4.63623547
9Chromosomal breakage induced by crosslinking agents (HP:0003221)4.57033957
10Hypobetalipoproteinemia (HP:0003563)4.53566100
11Abnormality of the common coagulation pathway (HP:0010990)4.52274522
12Xanthomatosis (HP:0000991)4.32992773
13Hypercholesterolemia (HP:0003124)4.18586934
14Intestinal fistula (HP:0100819)4.12028246
15Complement deficiency (HP:0004431)4.10722086
16Vaginal fistula (HP:0004320)4.04413607
17Hemorrhage of the eye (HP:0011885)3.96497316
18Ependymoma (HP:0002888)3.94939959
19Abnormality of carpal bone ossification (HP:0006257)3.94179628
20Chromsome breakage (HP:0040012)3.76709599
21Bilateral microphthalmos (HP:0007633)3.70567203
22Menorrhagia (HP:0000132)3.62214828
23Flat acetabular roof (HP:0003180)3.62012386
24Intrahepatic cholestasis (HP:0001406)3.57016944
25Abnormality of the lower motor neuron (HP:0002366)3.56051964
26Epiphyseal dysplasia (HP:0002656)3.49395782
27Short humerus (HP:0005792)3.46840906
28Abnormal tarsal ossification (HP:0008369)3.45250956
29Aplasia/hypoplasia of the humerus (HP:0006507)3.43348700
30Aplasia/Hypoplasia of the optic nerve (HP:0008058)3.42857290
31Nephroblastoma (Wilms tumor) (HP:0002667)3.41016945
32Glomerulonephritis (HP:0000099)3.39658511
33Embryonal renal neoplasm (HP:0011794)3.25677664
34Abnormality of the astrocytes (HP:0100707)3.23764746
35Astrocytoma (HP:0009592)3.23764746
36Hypoplasia of the capital femoral epiphysis (HP:0003090)3.23183711
37Irregular epiphyses (HP:0010582)3.20185860
38Acanthocytosis (HP:0001927)3.18087711
39Pancreatic islet-cell hyperplasia (HP:0004510)3.16152436
40Optic nerve hypoplasia (HP:0000609)3.07816480
41Hypolipoproteinemia (HP:0010981)3.06914147
42Abnormality of aromatic amino acid family metabolism (HP:0004338)3.02841692
43Facial hemangioma (HP:0000329)2.99933464
44Protrusio acetabuli (HP:0003179)2.98501645
45Spontaneous abortion (HP:0005268)2.98215516
46Abnormality of complement system (HP:0005339)2.97777066
47Vascular calcification (HP:0004934)2.97444349
48Abnormal hand bone ossification (HP:0010660)2.94438473
49Upper limb muscle weakness (HP:0003484)2.93665434
50Abnormal ossification of hand bones (HP:0005921)2.93492473
51Asymmetry of the thorax (HP:0001555)2.92176152
52Broad palm (HP:0001169)2.89960797
53Squamous cell carcinoma (HP:0002860)2.88131210
54Partial duplication of thumb phalanx (HP:0009944)2.81875284
55Abnormality of the labia minora (HP:0012880)2.75518744
56Generalized hypotonia (HP:0001290)2.73292320
57Hepatoblastoma (HP:0002884)2.71452784
58Epidermoid cyst (HP:0200040)2.65638305
59Concave nail (HP:0001598)2.65479313
60Cardiovascular calcification (HP:0011915)2.63987241
61Turricephaly (HP:0000262)2.63232279
62Malnutrition (HP:0004395)2.60829465
63Neoplasm of striated muscle (HP:0009728)2.59616252
64Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.59459650
65Status epilepticus (HP:0002133)2.58912620
66Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.57890062
67Absent epiphyses (HP:0010577)2.57890062
68Flared iliac wings (HP:0002869)2.57638136
69Absent radius (HP:0003974)2.56797554
70Abnormality of the phalanges of the hallux (HP:0010057)2.55964814
71Partial duplication of the phalanx of hand (HP:0009999)2.54836514
72Tongue fasciculations (HP:0001308)2.53331587
73Septo-optic dysplasia (HP:0100842)2.53196534
74Gonadal dysgenesis (HP:0000133)2.51835386
75Diastasis recti (HP:0001540)2.51697845
76Rhabdomyosarcoma (HP:0002859)2.50171422
77Abnormality of the ileum (HP:0001549)2.47812881
78Abnormality of the nasal septum (HP:0000419)2.47161168
79Limited elbow extension (HP:0001377)2.45987850
80Enlarged kidneys (HP:0000105)2.44123192
81Testicular neoplasm (HP:0010788)2.43961259
82Abnormality of the salivary glands (HP:0010286)2.43828891
83Absent forearm bone (HP:0003953)2.42412130
84Aplasia involving forearm bones (HP:0009822)2.42412130
85Purpura (HP:0000979)2.42016789
86Ulnar bowing (HP:0003031)2.41001603
87Systemic lupus erythematosus (HP:0002725)2.39552254
88Skin nodule (HP:0200036)2.39378447
89Supernumerary spleens (HP:0009799)2.37188186
90Annular pancreas (HP:0001734)2.36355724
91Muscle fibrillation (HP:0010546)2.35337753
92Anomalous pulmonary venous return (HP:0010772)2.34802796
93Abnormality of the acetabulum (HP:0003170)2.33866591
94Aplasia/Hypoplasia of the uvula (HP:0010293)2.31134929
95Hypophosphatemic rickets (HP:0004912)2.29904930
96Capillary hemangiomas (HP:0005306)2.29409503
97Alacrima (HP:0000522)2.28603775
98Abnormality of the wing of the ilium (HP:0011867)2.28194119
99Abnormality of the lumbar spine (HP:0100712)2.28112827
100Gout (HP:0001997)2.26564174
101Preaxial foot polydactyly (HP:0001841)2.26105002
102Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.25631829
103Abnormality of the pubic bones (HP:0003172)2.23185837
104Increased IgM level (HP:0003496)2.22738571
105Aplasia/Hypoplasia affecting the fundus (HP:0008057)2.22447880
106Glioma (HP:0009733)2.22314143
107Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.21476635
108Pigmentary retinal degeneration (HP:0001146)2.20879572
109Selective tooth agenesis (HP:0001592)2.19360115
110Abnormality of abdominal situs (HP:0011620)2.18311090
111Abdominal situs inversus (HP:0003363)2.18311090
112Hepatocellular carcinoma (HP:0001402)2.17239119
113Abnormal foot bone ossification (HP:0010675)2.15534689
114Neonatal death (HP:0003811)2.15527018
115Meckel diverticulum (HP:0002245)2.15317429
116Ectopic anus (HP:0004397)2.13896161
117Hypoalphalipoproteinemia (HP:0003233)2.12966187
118Abnormal ventriculo-arterial connection (HP:0011563)2.09611950
119Transposition of the great arteries (HP:0001669)2.09611950
120Abnormal connection of the cardiac segments (HP:0011545)2.09611950
121Anal atresia (HP:0002023)2.09219360
122Febrile seizures (HP:0002373)2.07911173
123Cutaneous melanoma (HP:0012056)2.07168897
124Hydroxyprolinuria (HP:0003080)2.07028230
125Abnormality of proline metabolism (HP:0010907)2.07028230
126Hypoplasia of the fovea (HP:0007750)2.07019801
127Aplasia/Hypoplasia of the fovea (HP:0008060)2.07019801
128Cheilitis (HP:0100825)2.06616554
129Fused cervical vertebrae (HP:0002949)2.06528224
130Shawl scrotum (HP:0000049)2.06344406
131Abnormality of the aortic arch (HP:0012303)2.06212052
132Wide nose (HP:0000445)2.06094763
133Absent speech (HP:0001344)2.05108019
134Abnormality of the distal phalanges of the toes (HP:0010182)2.03325628
135Impulsivity (HP:0100710)2.03115704
136Vertebral fusion (HP:0002948)2.00685198
137Cupped ribs (HP:0000887)2.00546197
138Broad alveolar ridges (HP:0000187)2.00505212
139Facial shape deformation (HP:0011334)2.00212816
140Potter facies (HP:0002009)2.00212816
141Renal duplication (HP:0000075)2.00034691
142Gingival bleeding (HP:0000225)1.99364204
143Abnormality of the lacrimal duct (HP:0011481)1.99229658
144Bronchomalacia (HP:0002780)1.97201965
145Supernumerary ribs (HP:0005815)1.96025886
146Abnormality of the pulmonary veins (HP:0011718)1.96021998
147Duplication of thumb phalanx (HP:0009942)1.95405148
148Hypoglycemic coma (HP:0001325)1.94847450
149Abnormality of pain sensation (HP:0010832)1.93477216
150Impaired pain sensation (HP:0007328)1.93477216
151Hypochromic anemia (HP:0001931)1.93107703
152Aplasia cutis congenita (HP:0001057)1.92819948
153Abnormality of the pancreatic islet cells (HP:0006476)1.92133204
154Abnormality of endocrine pancreas physiology (HP:0012093)1.92133204
155Mitral stenosis (HP:0001718)1.91503945
156Basal cell carcinoma (HP:0002671)1.90324347
157Thrombophlebitis (HP:0004418)1.89973694
158Preauricular pit (HP:0004467)1.89031452
159Periauricular skin pits (HP:0100277)1.89031452
160Myocardial infarction (HP:0001658)1.88937127
161Broad nasal tip (HP:0000455)1.88810678
162Vertebral compression fractures (HP:0002953)1.88292131
163Short 5th finger (HP:0009237)1.87079606
164Hypotrichosis (HP:0001006)1.86332586
165Osteomalacia (HP:0002749)1.84075206
166Neoplasm of the liver (HP:0002896)1.83579469
167Coronal craniosynostosis (HP:0004440)1.83455938
168Hyperglycinuria (HP:0003108)1.83010226
169Delayed closure of the anterior fontanelle (HP:0001476)1.82250407
170Conjugated hyperbilirubinemia (HP:0002908)1.82193556
171Abnormality of the vitreous humor (HP:0004327)1.81219758
172Abnormal sex determination (HP:0012244)1.79434497
173Sex reversal (HP:0012245)1.79434497
174Abnormality of the distal phalanx of the thumb (HP:0009617)1.78862000
175Anophthalmia (HP:0000528)1.77060276
176Lip pit (HP:0100267)1.73715537
177Heterotopia (HP:0002282)1.70786921
178Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.70628847
179Abnormal lung lobation (HP:0002101)1.70416899
180Hemivertebrae (HP:0002937)1.69574444
181Supernumerary bones of the axial skeleton (HP:0009144)1.68394487
182Aplasia/Hypoplasia of the sacrum (HP:0008517)1.68362007
183Supernumerary nipples (HP:0002558)1.68138897
184Short 1st metacarpal (HP:0010034)1.66470449
185Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.66470449
186Pendular nystagmus (HP:0012043)1.66134861
187Abnormal number of incisors (HP:0011064)1.65833440
188Multiple enchondromatosis (HP:0005701)1.64768919

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK8.08884012
2FGFR45.94078918
3CDK124.58163352
4FGFR34.28336358
5WNK44.24809169
6STK38L3.86077387
7ICK3.36993255
8EEF2K2.81795537
9DDR22.65543561
10GRK12.61341868
11STK242.58586952
12GRK52.54522418
13TRIB32.50653426
14TYRO32.42108189
15PRKD22.41000452
16MATK2.34540821
17MAPK152.28936122
18FGFR22.08598418
19TTK2.06121829
20GRK61.98711585
21FGFR11.96614267
22PIK3CA1.96354506
23MAP3K61.95357566
24LATS11.90268700
25CDK71.80421311
26LATS21.79585310
27RIPK11.69236281
28PKN21.66789893
29AKT31.55716115
30YES11.43129548
31PLK11.40874161
32SMG11.37363042
33EPHA21.36561355
34BMX1.32112734
35STK101.32073124
36KDR1.31428064
37PDPK11.19558747
38CHEK21.19331885
39LMTK21.18654963
40PRKAA21.17913449
41ADRBK21.15904586
42MAPKAPK31.13705661
43ALK1.13517610
44NME11.13315067
45FGR1.13238361
46ERN11.12751445
47RET1.12048792
48PIM11.10255612
49CSK1.06130789
50MAP3K91.05395363
51PRPF4B1.03634885
52UHMK11.02142654
53NEK90.98601651
54EIF2AK20.97087528
55PDGFRA0.95714980
56SIK10.94780119
57STK390.93633020
58MAP3K110.92437617
59SGK4940.90044554
60SGK2230.90044554
61CSF1R0.89272573
62CDK40.87428744
63STK30.87187095
64EIF2AK10.86210675
65PDK10.83672184
66DAPK10.82997523
67GRK70.82320428
68MAPK110.81936618
69ERBB20.81304672
70TGFBR20.80221304
71IRAK30.79298009
72MAP3K20.76438668
73MAPK70.75816357
74DYRK1B0.75665566
75GSK3A0.72299776
76MOS0.70636564
77SGK10.70291361
78PDGFRB0.69730357
79CDC42BPA0.66842364
80BLK0.64453402
81PINK10.64231039
82CSNK1G10.62529644
83MARK20.61797387
84ERBB40.61796637
85MAP2K60.61604346
86AKT20.61002667
87NEK10.60901865
88MAP3K100.60610245
89HIPK20.60066201
90PRKAA10.59575597
91MAPKAPK50.58910428
92SGK30.58723000
93CHEK10.58719453
94CSNK1G30.58598358
95RPS6KB10.58092201
96MTOR0.57946991
97MAP3K70.57842587
98CSNK1A1L0.57642583
99AURKA0.56281844
100CAMK40.56022814
101NTRK10.53361117
102BRSK10.52979307
103PRKCZ0.52504730
104PTK60.50090755
105CAMK1D0.49993906
106SRC0.49618133
107CDK20.48990951
108PTK20.47386802
109CDK80.47009791
110BRD40.43265172
111DYRK20.43014072
112ATR0.42965170
113RPS6KB20.42937714
114CSNK1E0.41463640
115SGK20.41372423
116MAPK100.41099085
117NTRK30.40062475
118MAPK10.39510367
119MET0.39310504
120ATM0.38141561
121CSNK1G20.35683084
122NTRK20.34978984
123WNK10.34704577
124CDK10.34554716
125ADRBK10.34285251
126PHKG20.33631377
127PHKG10.33631377
128MAPK40.33530362
129PRKG20.32286757
130TAOK20.30414744
131MAP2K30.29445194
132CDK60.29431774
133PAK20.28949416
134INSR0.28069318
135NEK20.27802881
136EIF2AK30.27486673
137MAP2K10.27341232
138GSK3B0.27172318
139FLT30.26784090
140MAPK30.26576533
141CSNK2A10.26572900
142CDC70.26561091
143WNK30.25396373
144MAPK140.25359747
145PRKACG0.23783881
146CSNK2A20.23718197
147SIK20.23068829
148STK380.22989616
149PIM20.22698587
150IGF1R0.22136223
151AURKB0.21612924
152PRKCH0.21503920
153ITK0.21392663
154FRK0.20566181
155MAP3K10.20368114
156CSNK1D0.19855865
157RPS6KA30.19599424

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046105.07615228
2Mismatch repair_Homo sapiens_hsa034303.65236405
3Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.64519608
4Base excision repair_Homo sapiens_hsa034103.24796856
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.02097035
6Vitamin B6 metabolism_Homo sapiens_hsa007502.98945808
7DNA replication_Homo sapiens_hsa030302.96750958
8Fat digestion and absorption_Homo sapiens_hsa049752.95611757
9Vitamin digestion and absorption_Homo sapiens_hsa049772.94867642
10Primary bile acid biosynthesis_Homo sapiens_hsa001202.88069859
11Fatty acid biosynthesis_Homo sapiens_hsa000612.56663918
12Hedgehog signaling pathway_Homo sapiens_hsa043402.46189416
13Fanconi anemia pathway_Homo sapiens_hsa034602.42397420
14N-Glycan biosynthesis_Homo sapiens_hsa005102.38787378
15Other glycan degradation_Homo sapiens_hsa005112.23901039
16Basal cell carcinoma_Homo sapiens_hsa052172.19119851
17One carbon pool by folate_Homo sapiens_hsa006702.09710550
18Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.06115217
19Histidine metabolism_Homo sapiens_hsa003402.03747996
20PPAR signaling pathway_Homo sapiens_hsa033202.03263190
21Notch signaling pathway_Homo sapiens_hsa043302.00891587
22Homologous recombination_Homo sapiens_hsa034401.98380390
23Cyanoamino acid metabolism_Homo sapiens_hsa004601.94220303
24Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.84112922
25Nucleotide excision repair_Homo sapiens_hsa034201.81202590
26Fructose and mannose metabolism_Homo sapiens_hsa000511.78367269
27Hippo signaling pathway_Homo sapiens_hsa043901.77541680
28Maturity onset diabetes of the young_Homo sapiens_hsa049501.77031473
29p53 signaling pathway_Homo sapiens_hsa041151.73290521
30Fatty acid degradation_Homo sapiens_hsa000711.73254670
31Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.68053300
32Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.67301699
33RNA transport_Homo sapiens_hsa030131.57478266
34Galactose metabolism_Homo sapiens_hsa000521.56933017
35mRNA surveillance pathway_Homo sapiens_hsa030151.56719418
36Arginine and proline metabolism_Homo sapiens_hsa003301.54454117
37Starch and sucrose metabolism_Homo sapiens_hsa005001.53416376
38mTOR signaling pathway_Homo sapiens_hsa041501.45766446
39Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.45125181
40Steroid biosynthesis_Homo sapiens_hsa001001.43493280
41Wnt signaling pathway_Homo sapiens_hsa043101.42283968
42Phenylalanine metabolism_Homo sapiens_hsa003601.41667890
43Cell cycle_Homo sapiens_hsa041101.41103004
44Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.39244362
45Thyroid hormone synthesis_Homo sapiens_hsa049181.37778425
46Staphylococcus aureus infection_Homo sapiens_hsa051501.25586077
47Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.23341978
48Chemical carcinogenesis_Homo sapiens_hsa052041.23302272
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.22606991
50Retinol metabolism_Homo sapiens_hsa008301.20135205
51Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.19887577
52Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.17742641
53Renin-angiotensin system_Homo sapiens_hsa046141.16819646
54Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.07142275
55Pentose and glucuronate interconversions_Homo sapiens_hsa000401.03483701
56Lysine degradation_Homo sapiens_hsa003101.01915969
57Spliceosome_Homo sapiens_hsa030401.00753307
58Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.00373028
59Folate biosynthesis_Homo sapiens_hsa007900.99892854
60Regulation of actin cytoskeleton_Homo sapiens_hsa048100.99355969
61Mineral absorption_Homo sapiens_hsa049780.96663996
62Biosynthesis of amino acids_Homo sapiens_hsa012300.95956003
63Arachidonic acid metabolism_Homo sapiens_hsa005900.95729995
64Transcriptional misregulation in cancer_Homo sapiens_hsa052020.95421200
65Propanoate metabolism_Homo sapiens_hsa006400.95036399
66Oocyte meiosis_Homo sapiens_hsa041140.94224140
67Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.92226219
68Longevity regulating pathway - mammal_Homo sapiens_hsa042110.90937991
69Adherens junction_Homo sapiens_hsa045200.90845762
70Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.90500614
71Bladder cancer_Homo sapiens_hsa052190.83822333
72ECM-receptor interaction_Homo sapiens_hsa045120.83150072
73Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.82967925
74Tryptophan metabolism_Homo sapiens_hsa003800.82358209
75Pyruvate metabolism_Homo sapiens_hsa006200.82116179
76Glutathione metabolism_Homo sapiens_hsa004800.81877218
77Sphingolipid metabolism_Homo sapiens_hsa006000.81274723
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.81081884
79Pathways in cancer_Homo sapiens_hsa052000.80262493
80Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.78989780
81Adipocytokine signaling pathway_Homo sapiens_hsa049200.78731786
82MicroRNAs in cancer_Homo sapiens_hsa052060.78517964
83Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.77786953
84HIF-1 signaling pathway_Homo sapiens_hsa040660.77247166
85Linoleic acid metabolism_Homo sapiens_hsa005910.76987551
86Glucagon signaling pathway_Homo sapiens_hsa049220.74882342
87Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.74621816
88Insulin resistance_Homo sapiens_hsa049310.74212409
89Tight junction_Homo sapiens_hsa045300.72699767
90Glycerolipid metabolism_Homo sapiens_hsa005610.71512376
91Peroxisome_Homo sapiens_hsa041460.70961175
92ABC transporters_Homo sapiens_hsa020100.70175233
93Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.69200645
94Choline metabolism in cancer_Homo sapiens_hsa052310.69002088
95Carbon metabolism_Homo sapiens_hsa012000.66815637
96Inositol phosphate metabolism_Homo sapiens_hsa005620.66043746
97Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.65290075
98Sulfur relay system_Homo sapiens_hsa041220.64255062
99AMPK signaling pathway_Homo sapiens_hsa041520.62564299
100Small cell lung cancer_Homo sapiens_hsa052220.61846965
101Basal transcription factors_Homo sapiens_hsa030220.60236412
102Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.58857256
103Thyroid cancer_Homo sapiens_hsa052160.55367791
104Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.55309286
105alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.53057894
106Central carbon metabolism in cancer_Homo sapiens_hsa052300.53048272
107TGF-beta signaling pathway_Homo sapiens_hsa043500.52554590
108Insulin signaling pathway_Homo sapiens_hsa049100.52466301
109Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.52291879
110Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.52252227
111Prion diseases_Homo sapiens_hsa050200.51585235
112Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.51483779
113Pyrimidine metabolism_Homo sapiens_hsa002400.51352688
114Arginine biosynthesis_Homo sapiens_hsa002200.50556966
115ErbB signaling pathway_Homo sapiens_hsa040120.49911291
1162-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.49037389
117Nitrogen metabolism_Homo sapiens_hsa009100.47439016
118Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45873289
119Butanoate metabolism_Homo sapiens_hsa006500.45563528
120Non-small cell lung cancer_Homo sapiens_hsa052230.45046457
121Metabolic pathways_Homo sapiens_hsa011000.42578583
122Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.42228119
123Glycerophospholipid metabolism_Homo sapiens_hsa005640.41549570
124Rap1 signaling pathway_Homo sapiens_hsa040150.38560121
125Steroid hormone biosynthesis_Homo sapiens_hsa001400.37893808
126PI3K-Akt signaling pathway_Homo sapiens_hsa041510.37735344
127Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.37613310
128Selenocompound metabolism_Homo sapiens_hsa004500.36720272
129HTLV-I infection_Homo sapiens_hsa051660.35626308
130Fatty acid metabolism_Homo sapiens_hsa012120.35090580
131Fatty acid elongation_Homo sapiens_hsa000620.34400219
132Ovarian steroidogenesis_Homo sapiens_hsa049130.33918730
133Glycosaminoglycan degradation_Homo sapiens_hsa005310.33381460
134Focal adhesion_Homo sapiens_hsa045100.32414036
135Ether lipid metabolism_Homo sapiens_hsa005650.32356547
136Axon guidance_Homo sapiens_hsa043600.32236582
137Phototransduction_Homo sapiens_hsa047440.30616340
138Jak-STAT signaling pathway_Homo sapiens_hsa046300.30032715
139Proteoglycans in cancer_Homo sapiens_hsa052050.29473647
140Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.27479312
141Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.27027862
142VEGF signaling pathway_Homo sapiens_hsa043700.24836688
143Dorso-ventral axis formation_Homo sapiens_hsa043200.24448042
144Viral carcinogenesis_Homo sapiens_hsa052030.24160293
145Acute myeloid leukemia_Homo sapiens_hsa052210.23809657
146Phospholipase D signaling pathway_Homo sapiens_hsa040720.22522000
147Endocytosis_Homo sapiens_hsa041440.21702216
148Phosphatidylinositol signaling system_Homo sapiens_hsa040700.21398026
149Drug metabolism - other enzymes_Homo sapiens_hsa009830.19779582
150Colorectal cancer_Homo sapiens_hsa052100.19190389
151Bile secretion_Homo sapiens_hsa049760.16029835
152Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.15612552
153Tyrosine metabolism_Homo sapiens_hsa003500.14574582

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