CBS

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 acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.58180743
2L-phenylalanine catabolic process (GO:0006559)7.58180743
3L-phenylalanine metabolic process (GO:0006558)7.25636477
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.25636477
5aromatic amino acid family catabolic process (GO:0009074)6.75085888
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.17063873
7tryptophan catabolic process (GO:0006569)6.07188986
8indole-containing compound catabolic process (GO:0042436)6.07188986
9indolalkylamine catabolic process (GO:0046218)6.07188986
10kynurenine metabolic process (GO:0070189)5.88616842
11glyoxylate metabolic process (GO:0046487)5.82194636
12bile acid biosynthetic process (GO:0006699)5.80259669
13tryptophan metabolic process (GO:0006568)5.71719376
14* L-serine metabolic process (GO:0006563)5.62690207
15alpha-linolenic acid metabolic process (GO:0036109)5.56822134
16urea metabolic process (GO:0019627)5.42687777
17urea cycle (GO:0000050)5.42687777
18high-density lipoprotein particle remodeling (GO:0034375)5.39472212
19negative regulation of fibrinolysis (GO:0051918)5.27900265
20* sulfur amino acid catabolic process (GO:0000098)5.27441174
21* cysteine metabolic process (GO:0006534)5.26440356
22complement activation, alternative pathway (GO:0006957)5.09684153
23regulation of fibrinolysis (GO:0051917)5.09134551
24regulation of protein activation cascade (GO:2000257)5.08163397
25peptidyl-glutamic acid carboxylation (GO:0017187)5.06745100
26protein carboxylation (GO:0018214)5.06745100
27nitrogen cycle metabolic process (GO:0071941)5.00951380
28* serine family amino acid catabolic process (GO:0009071)4.96290135
29bile acid metabolic process (GO:0008206)4.94503266
30aromatic amino acid family metabolic process (GO:0009072)4.91382011
31lysine catabolic process (GO:0006554)4.87993112
32lysine metabolic process (GO:0006553)4.87993112
33reverse cholesterol transport (GO:0043691)4.85459888
34fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.84624347
35DNA unwinding involved in DNA replication (GO:0006268)4.84227374
36protein complex localization (GO:0031503)4.76550702
37regulation of complement activation (GO:0030449)4.74286429
38* alpha-amino acid catabolic process (GO:1901606)4.72582079
39regulation of cholesterol esterification (GO:0010872)4.71074431
40plasma lipoprotein particle remodeling (GO:0034369)4.65965947
41protein-lipid complex remodeling (GO:0034368)4.65965947
42macromolecular complex remodeling (GO:0034367)4.65965947
43regulation of translational fidelity (GO:0006450)4.65591875
44amino-acid betaine metabolic process (GO:0006577)4.64978900
45tyrosine metabolic process (GO:0006570)4.62232645
46folic acid-containing compound biosynthetic process (GO:0009396)4.60722068
47glycine metabolic process (GO:0006544)4.57712094
48regulation of triglyceride catabolic process (GO:0010896)4.55428216
49coenzyme catabolic process (GO:0009109)4.49172586
50cellular ketone body metabolic process (GO:0046950)4.48625654
51nuclear pore complex assembly (GO:0051292)4.48019453
52negative regulation of cholesterol transport (GO:0032375)4.45835899
53negative regulation of sterol transport (GO:0032372)4.45835899
54glutamate metabolic process (GO:0006536)4.43519018
55* cellular amino acid catabolic process (GO:0009063)4.43359657
56* homocysteine metabolic process (GO:0050667)4.41178891
57triglyceride homeostasis (GO:0070328)4.37284763
58acylglycerol homeostasis (GO:0055090)4.37284763
59phospholipid efflux (GO:0033700)4.34137650
60* serine family amino acid metabolic process (GO:0009069)4.31505186
61indolalkylamine metabolic process (GO:0006586)4.29564828
62cellular biogenic amine catabolic process (GO:0042402)4.26654012
63amine catabolic process (GO:0009310)4.26654012
64* cellular modified amino acid catabolic process (GO:0042219)4.24769766
65imidazole-containing compound metabolic process (GO:0052803)4.24537018
66bile acid and bile salt transport (GO:0015721)4.22846174
67proline biosynthetic process (GO:0006561)4.22290168
68pre-miRNA processing (GO:0031054)4.19718711
69cellular protein complex localization (GO:0034629)4.17639927
70heterochromatin organization (GO:0070828)4.14544151
71ethanol oxidation (GO:0006069)4.11825641
72plasma lipoprotein particle clearance (GO:0034381)4.10930979
73regulation of gene silencing by RNA (GO:0060966)4.10578459
74regulation of posttranscriptional gene silencing (GO:0060147)4.10578459
75regulation of gene silencing by miRNA (GO:0060964)4.10578459
76cellular glucuronidation (GO:0052695)4.10080495
77tetrahydrofolate metabolic process (GO:0046653)4.09323811
78low-density lipoprotein particle remodeling (GO:0034374)4.08955818
79dicarboxylic acid biosynthetic process (GO:0043650)4.08013266
80* serine family amino acid biosynthetic process (GO:0009070)4.02791792
81benzene-containing compound metabolic process (GO:0042537)4.02089033
82IMP biosynthetic process (GO:0006188)4.00006845
83proline metabolic process (GO:0006560)3.98781400
84cholesterol efflux (GO:0033344)3.96394183
85intestinal cholesterol absorption (GO:0030299)3.91300366
86arginine metabolic process (GO:0006525)3.91172925
87nuclear pore organization (GO:0006999)3.90354559
88short-chain fatty acid metabolic process (GO:0046459)3.90213681
89ketone body metabolic process (GO:1902224)3.87762953
90plasma lipoprotein particle assembly (GO:0034377)3.86419592
91* organic acid catabolic process (GO:0016054)3.84861719
92* carboxylic acid catabolic process (GO:0046395)3.84861719
93drug catabolic process (GO:0042737)3.84423550
94aspartate family amino acid catabolic process (GO:0009068)3.83548666
95regulation of cholesterol homeostasis (GO:2000188)3.82282880
96histone arginine methylation (GO:0034969)3.79697251
97aldehyde catabolic process (GO:0046185)3.77589647
98DNA strand elongation involved in DNA replication (GO:0006271)3.75366929
99L-alpha-amino acid transmembrane transport (GO:1902475)3.75171245
100peptidyl-arginine omega-N-methylation (GO:0035247)3.74645624
101fibrinolysis (GO:0042730)3.73782043
102regulation of bile acid biosynthetic process (GO:0070857)3.72531254
103acetyl-CoA metabolic process (GO:0006084)3.69870982
104cofactor catabolic process (GO:0051187)3.68512285
105folic acid-containing compound metabolic process (GO:0006760)3.67685973
106very-low-density lipoprotein particle assembly (GO:0034379)3.64425684
107glucuronate metabolic process (GO:0019585)3.63299038
108uronic acid metabolic process (GO:0006063)3.63299038
109DNA strand elongation (GO:0022616)3.62403400
110cholesterol homeostasis (GO:0042632)3.61937096
111DNA replication initiation (GO:0006270)3.61736237
112complement activation, classical pathway (GO:0006958)3.61380491
113phospholipid homeostasis (GO:0055091)3.61099433
114IMP metabolic process (GO:0046040)3.60237565
115complement activation (GO:0006956)3.56666939
116sterol homeostasis (GO:0055092)3.56342109
117plasma lipoprotein particle organization (GO:0071827)3.55599605
118blood coagulation, intrinsic pathway (GO:0007597)3.54729745
119urate metabolic process (GO:0046415)3.54525303
120protein localization to kinetochore (GO:0034501)3.54119368
121positive regulation of lipoprotein lipase activity (GO:0051006)3.53920973
122positive regulation of triglyceride lipase activity (GO:0061365)3.53920973
123protein activation cascade (GO:0072376)3.52897892
124drug transmembrane transport (GO:0006855)3.52419558
125cytolysis (GO:0019835)3.52065942
126monocarboxylic acid catabolic process (GO:0072329)3.50411873
127protein localization to chromosome, centromeric region (GO:0071459)3.37733497
128paraxial mesoderm development (GO:0048339)3.35191387
129DNA replication checkpoint (GO:0000076)3.29290164
130mitotic chromosome condensation (GO:0007076)3.28358889
131establishment of integrated proviral latency (GO:0075713)3.27835741
132regulation of plasminogen activation (GO:0010755)3.22578292
133pore complex assembly (GO:0046931)3.15944679
134mitotic sister chromatid segregation (GO:0000070)3.15597969
135folic acid metabolic process (GO:0046655)3.15510516
136nucleobase biosynthetic process (GO:0046112)3.15114483
137peptidyl-arginine N-methylation (GO:0035246)3.11694321
138peptidyl-arginine methylation (GO:0018216)3.11694321
139purine nucleobase biosynthetic process (GO:0009113)3.08456216
140protein-DNA complex disassembly (GO:0032986)3.07548136
141nucleosome disassembly (GO:0006337)3.07548136
142pteridine-containing compound biosynthetic process (GO:0042559)3.04206121
143glutamine metabolic process (GO:0006541)2.99259344
144pteridine-containing compound metabolic process (GO:0042558)2.95665400
145sister chromatid segregation (GO:0000819)2.94626702
146negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.91941550
147biotin metabolic process (GO:0006768)2.91330888
148convergent extension (GO:0060026)2.89320349
149planar cell polarity pathway involved in neural tube closure (GO:0090179)2.86728578
150midgut development (GO:0007494)2.83723576
151telomere maintenance via semi-conservative replication (GO:0032201)2.83246195
152DNA duplex unwinding (GO:0032508)2.82519638
153* alpha-amino acid biosynthetic process (GO:1901607)2.82032131
154establishment of apical/basal cell polarity (GO:0035089)2.77623643
155mitochondrial DNA metabolic process (GO:0032042)2.75580597
156chromosome condensation (GO:0030261)2.74716822
157mitotic nuclear envelope disassembly (GO:0007077)2.72495356
158DNA geometric change (GO:0032392)2.69509398
159chromatin assembly (GO:0031497)2.69334172
160regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.68888491
161glutamine family amino acid biosynthetic process (GO:0009084)2.68282814
162tRNA aminoacylation for protein translation (GO:0006418)2.65089063
163negative regulation of histone methylation (GO:0031061)2.64547961
164chromatin assembly or disassembly (GO:0006333)2.62571703
165positive regulation of SMAD protein import into nucleus (GO:0060391)2.60767075
166rRNA transcription (GO:0009303)2.60411964
167DNA replication-independent nucleosome assembly (GO:0006336)2.59391391
168DNA replication-independent nucleosome organization (GO:0034724)2.59391391
169negative regulation of telomerase activity (GO:0051974)2.59349480
170DNA topological change (GO:0006265)2.59143691
171ribosome biogenesis (GO:0042254)2.58933199
172ATP-dependent chromatin remodeling (GO:0043044)2.58390251
173formation of translation preinitiation complex (GO:0001731)2.58359395
174regulation of stem cell maintenance (GO:2000036)2.55944619
175mitochondrial RNA metabolic process (GO:0000959)2.55546960
176regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.55453057
177DNA replication-dependent nucleosome organization (GO:0034723)2.54875364
178DNA replication-dependent nucleosome assembly (GO:0006335)2.54875364
179amino acid activation (GO:0043038)2.54559264
180tRNA aminoacylation (GO:0043039)2.54559264
181chromatin remodeling at centromere (GO:0031055)2.52933578
182CENP-A containing nucleosome assembly (GO:0034080)2.51725237
183nuclear envelope disassembly (GO:0051081)2.50362589
184membrane disassembly (GO:0030397)2.50362589
185regulation of translational elongation (GO:0006448)2.49547728
186DNA conformation change (GO:0071103)2.48126616
187negative regulation of mRNA processing (GO:0050686)2.45254715

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.29306820
2E2F7_22180533_ChIP-Seq_HELA_Human7.85864857
3* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.14112442
4EGR1_23403033_ChIP-Seq_LIVER_Mouse6.70356996
5LXR_22158963_ChIP-Seq_LIVER_Mouse6.43822576
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.36879306
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.92188019
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.72104389
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.93547862
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.89773384
11MYC_18555785_ChIP-Seq_MESCs_Mouse3.74853249
12FOXM1_23109430_ChIP-Seq_U2OS_Human3.53503639
13EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.17116068
14HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.81542901
15MYC_19079543_ChIP-ChIP_MESCs_Mouse2.80216188
16E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.70095227
17FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.54151581
18MYC_19030024_ChIP-ChIP_MESCs_Mouse2.53223817
19MYC_18358816_ChIP-ChIP_MESCs_Mouse2.41023527
20AR_21909140_ChIP-Seq_LNCAP_Human2.40915785
21ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.28124730
22* XRN2_22483619_ChIP-Seq_HELA_Human2.21985369
23E2F4_17652178_ChIP-ChIP_JURKAT_Human2.21908993
24TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.08736135
25MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.01739034
26HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.01026130
27TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.00762357
28* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.8141258
29NELFA_20434984_ChIP-Seq_ESCs_Mouse1.93811268
30KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.92693343
31KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.92693343
32KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.92693343
33CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.89650977
34* E2F1_21310950_ChIP-Seq_MCF-7_Human1.87796273
35MYC_22102868_ChIP-Seq_BL_Human1.86584093
36MYCN_18555785_ChIP-Seq_MESCs_Mouse1.86038553
37* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.81583632
38THAP11_20581084_ChIP-Seq_MESCs_Mouse1.78036534
39POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.75488965
40KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.73789110
41NANOG_18555785_ChIP-Seq_MESCs_Mouse1.70066188
42FOXA2_19822575_ChIP-Seq_HepG2_Human1.63549520
43* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.61768989
44MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.58718937
45KLF4_18555785_ChIP-Seq_MESCs_Mouse1.56773419
46CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.56710277
47CLOCK_20551151_ChIP-Seq_293T_Human1.56133020
48HTT_18923047_ChIP-ChIP_STHdh_Human1.53577292
49SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.47055904
50JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.46865410
51TTF2_22483619_ChIP-Seq_HELA_Human1.46664727
52* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.45676128
53* HNF4A_19822575_ChIP-Seq_HepG2_Human1.42065272
54TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.41866696
55YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.39576290
56NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.38698041
57CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.37170865
58KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.37025817
59DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.35508534
60SOX2_18555785_ChIP-Seq_MESCs_Mouse1.35495164
61GATA1_22025678_ChIP-Seq_K562_Human1.35217944
62EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.30651651
63THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.30571362
64ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.29688189
65CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.28668959
66STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.26715925
67DCP1A_22483619_ChIP-Seq_HELA_Human1.26212507
68PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.25409130
69ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.24889977
70CREB1_15753290_ChIP-ChIP_HEK293T_Human1.24631073
71NANOG_21062744_ChIP-ChIP_HESCs_Human1.24397435
72CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.23325714
73TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22944402
74RXRA_24833708_ChIP-Seq_LIVER_Mouse1.22305284
75KDM5A_27292631_Chip-Seq_BREAST_Human1.20955920
76TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.17147166
77GABP_19822575_ChIP-Seq_HepG2_Human1.16381978
78KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.16014628
79ETS1_20019798_ChIP-Seq_JURKAT_Human1.15862668
80NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.15591497
81KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.14056993
82POU5F1_16518401_ChIP-PET_MESCs_Mouse1.13224254
83CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.12721010
84TCF3_18692474_ChIP-Seq_MEFs_Mouse1.12106192
85CHD1_26751641_Chip-Seq_LNCaP_Human1.10660397
86SOX2_16153702_ChIP-ChIP_HESCs_Human1.10056428
87SOX2_27498859_Chip-Seq_STOMACH_Mouse1.08506205
88SOX2_18692474_ChIP-Seq_MEFs_Mouse1.07162529
89ESR1_15608294_ChIP-ChIP_MCF-7_Human1.06835145
90OCT4_18692474_ChIP-Seq_MEFs_Mouse1.05702676
91ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.05260827
92STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.03849519
93* NCOR1_26117541_ChIP-Seq_K562_Human1.03050712
94SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.02934922
95ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.99944862
96DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.99382232
97PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.97394802
98E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.95361398
99GATA4_25053715_ChIP-Seq_YYC3_Human0.94203148
100ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.93779491
101NANOG_16153702_ChIP-ChIP_HESCs_Human0.93778390
102KAP1_27257070_Chip-Seq_ESCs_Mouse0.92646681
103RARG_19884340_ChIP-ChIP_MEFs_Mouse0.92528649
104TBX5_21415370_ChIP-Seq_HL-1_Mouse0.92226490
105POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.92039572
106SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.91440030
107ESR2_21235772_ChIP-Seq_MCF-7_Human0.91340260
108SRY_22984422_ChIP-ChIP_TESTIS_Rat0.90372136
109SOX2_18692474_ChIP-Seq_MESCs_Mouse0.90091664
110POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.89660311
111EGR1_19374776_ChIP-ChIP_THP-1_Human0.88885944
112* CREB1_26743006_Chip-Seq_LNCaP_Human0.88614239
113* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.85645159
114SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.81885661
115NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.81334174
116AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.81299648
117SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.80617525
118AUTS2_25519132_ChIP-Seq_293T-REX_Human0.80213823
119TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.79013337
120IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.78997835
121RARA_24833708_ChIP-Seq_LIVER_Mouse0.77784698
122BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.75311632
123BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.74053580
124ERG_21242973_ChIP-ChIP_JURKAT_Human0.71927916
125KAP1_22055183_ChIP-Seq_ESCs_Mouse0.71414404
126ZNF263_19887448_ChIP-Seq_K562_Human0.71035990
127SALL4_18804426_ChIP-ChIP_XEN_Mouse0.69310658
128RAD21_21589869_ChIP-Seq_MESCs_Mouse0.68259514
129LXR_22292898_ChIP-Seq_THP-1_Human0.67245560
130ESR1_21235772_ChIP-Seq_MCF-7_Human0.65215396
131STAT3_1855785_ChIP-Seq_MESCs_Mouse0.64039215
132CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.63631770
133RARB_24833708_ChIP-Seq_LIVER_Mouse0.63314728
134FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.60341937
135CDX2_20551321_ChIP-Seq_CACO-2_Human0.59729049
136NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.56848589
137AR_20517297_ChIP-Seq_VCAP_Human0.56767248
138* NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.56361530
139FOXA1_25552417_ChIP-Seq_VCAP_Human0.55893920
140NRF2_20460467_ChIP-Seq_MEFs_Mouse0.55562998
141NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.55562998
142MYC_19915707_ChIP-ChIP_AK7_Human0.55528155
143* CEBPB_22108803_ChIP-Seq_LS180_Human0.55411260
144PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.55170123
145IRF8_22096565_ChIP-ChIP_GC-B_Human0.54931391
146ESET_19884257_ChIP-Seq_ESCs_Mouse0.54126668
147PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.53448889
148SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.52072591
149Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.51632772
150FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.51533061
151EGR1_19032775_ChIP-ChIP_M12_Human0.51085108
152* TAF2_19829295_ChIP-Seq_ESCs_Human0.50973456
153RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.50892948
154CBP_21632823_ChIP-Seq_H3396_Human0.49989228
155P53_21459846_ChIP-Seq_SAOS-2_Human0.49887305
156FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.49648744
157GATA6_25053715_ChIP-Seq_YYC3_Human0.49250124
158PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.47316777
159GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.44025294
160* FOXO3_23340844_ChIP-Seq_DLD1_Human0.43336521
161IRF1_19129219_ChIP-ChIP_H3396_Human0.43194845
162STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.42492180
163BCAT_22108803_ChIP-Seq_LS180_Human0.41954777
164SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.40805565
165ERG_20517297_ChIP-Seq_VCAP_Human0.40608288
166* MYC_27129775_Chip-Seq_CORNEA_Mouse0.40348435
167SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.40248789
168FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.39656728
169STAT1_17558387_ChIP-Seq_HELA_Human0.39613659
170P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.39586858
171EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.39088817
172MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.38878562
173GATA1_19941826_ChIP-Seq_K562_Human0.38576778
174PPAR_26484153_Chip-Seq_NCI-H1993_Human0.38331622
175GATA3_24758297_ChIP-Seq_MCF-7_Human0.37992833
176PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.37536523
177GATA1_19941827_ChIP-Seq_MEL_Mouse0.37233564
178PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.37176209
179POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.36565755
180FOXH1_21741376_ChIP-Seq_EPCs_Human0.35918871
181RACK7_27058665_Chip-Seq_MCF-7_Human0.35739316

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.16983175
2MP0005360_urolithiasis7.41124211
3MP0005365_abnormal_bile_salt6.34316354
4MP0005085_abnormal_gallbladder_physiolo6.33760730
5MP0008875_abnormal_xenobiotic_pharmacok4.83265675
6MP0003806_abnormal_nucleotide_metabolis4.29410058
7MP0003252_abnormal_bile_duct3.87124509
8MP0010329_abnormal_lipoprotein_level3.48756424
9MP0005083_abnormal_biliary_tract3.44970775
10MP0003693_abnormal_embryo_hatching3.38251785
11MP0003111_abnormal_nucleus_morphology3.30217448
12MP0009840_abnormal_foam_cell3.25843735
13MP0004957_abnormal_blastocyst_morpholog3.08322072
14MP0001666_abnormal_nutrient_absorption3.06077108
15* MP0005332_abnormal_amino_acid2.93797380
16MP0003195_calcinosis2.89988602
17MP0010094_abnormal_chromosome_stability2.71659698
18MP0003941_abnormal_skin_development2.59724132
19MP0008932_abnormal_embryonic_tissue2.42789429
20MP0004233_abnormal_muscle_weight2.42250041
21MP0004019_abnormal_vitamin_homeostasis2.26670575
22MP0010030_abnormal_orbit_morphology2.23112750
23MP0001730_embryonic_growth_arrest2.18669095
24MP0003868_abnormal_feces_composition2.14194522
25MP0003077_abnormal_cell_cycle2.13927974
26MP0003191_abnormal_cellular_cholesterol2.13265029
27MP0002118_abnormal_lipid_homeostasis2.12778174
28* MP0000609_abnormal_liver_physiology2.05233096
29MP0003890_abnormal_embryonic-extraembry2.04403797
30MP0002138_abnormal_hepatobiliary_system2.04051308
31MP0004858_abnormal_nervous_system2.03280343
32MP0000566_synostosis2.02790281
33MP0000537_abnormal_urethra_morphology1.88685737
34MP0008057_abnormal_DNA_replication1.86173081
35MP0002249_abnormal_larynx_morphology1.83174221
36MP0005319_abnormal_enzyme/_coenzyme1.79909087
37MP0004185_abnormal_adipocyte_glucose1.72741804
38MP0005076_abnormal_cell_differentiation1.71316045
39MP0008058_abnormal_DNA_repair1.70586112
40MP0003123_paternal_imprinting1.70359027
41MP0001764_abnormal_homeostasis1.68838048
42MP0001672_abnormal_embryogenesis/_devel1.68613020
43MP0005380_embryogenesis_phenotype1.68613020
44MP0003937_abnormal_limbs/digits/tail_de1.66112519
45MP0002085_abnormal_embryonic_tissue1.59766431
46MP0000678_abnormal_parathyroid_gland1.56869008
47* MP0002697_abnormal_eye_size1.54494445
48MP0005584_abnormal_enzyme/coenzyme_acti1.54326025
49MP0003984_embryonic_growth_retardation1.53145974
50MP0000350_abnormal_cell_proliferation1.50175970
51MP0002088_abnormal_embryonic_growth/wei1.47919435
52MP0002084_abnormal_developmental_patter1.46940638
53MP0003011_delayed_dark_adaptation1.46811227
54MP0001697_abnormal_embryo_size1.44355850
55MP0009643_abnormal_urine_homeostasis1.40385426
56MP0002080_prenatal_lethality1.40363293
57MP0006292_abnormal_olfactory_placode1.38788401
58MP0005451_abnormal_body_composition1.36890284
59MP0009697_abnormal_copulation1.36257485
60MP0003136_yellow_coat_color1.32811696
61MP0009703_decreased_birth_body1.27268006
62MP0002254_reproductive_system_inflammat1.25911067
63MP0004133_heterotaxia1.22534425
64MP0002938_white_spotting1.22385974
65MP0004197_abnormal_fetal_growth/weight/1.21372246
66MP0002111_abnormal_tail_morphology1.21010894
67MP0003567_abnormal_fetal_cardiomyocyte1.20644220
68MP0008007_abnormal_cellular_replicative1.19185578
69MP0005647_abnormal_sex_gland1.18754650
70MP0001293_anophthalmia1.18701303
71MP0001849_ear_inflammation1.18617395
72MP0000428_abnormal_craniofacial_morphol1.14816999
73* MP0003942_abnormal_urinary_system1.14495180
74MP0005220_abnormal_exocrine_pancreas1.14031853
75* MP0003186_abnormal_redox_activity1.13908903
76MP0003119_abnormal_digestive_system1.13409817
77MP0000604_amyloidosis1.11649323
78MP0003861_abnormal_nervous_system1.11059069
79* MP0000598_abnormal_liver_morphology1.10521481
80MP0000049_abnormal_middle_ear1.09829091
81* MP0002086_abnormal_extraembryonic_tissu1.09124469
82MP0003656_abnormal_erythrocyte_physiolo1.08717607
83MP0005084_abnormal_gallbladder_morpholo1.06537086
84MP0002089_abnormal_postnatal_growth/wei0.99453403
85MP0004272_abnormal_basement_membrane0.98721322
86MP0010352_gastrointestinal_tract_polyps0.97191831
87MP0009764_decreased_sensitivity_to0.96119805
88MP0010307_abnormal_tumor_latency0.94617700
89MP0001346_abnormal_lacrimal_gland0.93633313
90MP0002009_preneoplasia0.93458162
91* MP0005636_abnormal_mineral_homeostasis0.93356358
92MP0003935_abnormal_craniofacial_develop0.92678779
93MP0001299_abnormal_eye_distance/0.92229004
94MP0009763_increased_sensitivity_to0.91925292
95MP0003315_abnormal_perineum_morphology0.89932266
96MP0002396_abnormal_hematopoietic_system0.89362880
97MP0002092_abnormal_eye_morphology0.88561968
98MP0008995_early_reproductive_senescence0.87181343
99MP0000313_abnormal_cell_death0.86688690
100MP0003329_amyloid_beta_deposits0.86165142
101* MP0009642_abnormal_blood_homeostasis0.85985317
102MP0005670_abnormal_white_adipose0.85388278
103MP0003690_abnormal_glial_cell0.85218243
104MP0001188_hyperpigmentation0.84711516
105* MP0003705_abnormal_hypodermis_morpholog0.84702934
106MP0002078_abnormal_glucose_homeostasis0.84299378
107MP0006036_abnormal_mitochondrial_physio0.84256129
108MP0003385_abnormal_body_wall0.82570767
109MP0001915_intracranial_hemorrhage0.82355086
110* MP0000432_abnormal_head_morphology0.80779814
111MP0000534_abnormal_ureter_morphology0.80260293
112MP0002876_abnormal_thyroid_physiology0.79938410
113MP0005187_abnormal_penis_morphology0.79829208
114MP0005408_hypopigmentation0.79040783
115MP0000003_abnormal_adipose_tissue0.78160544
116MP0005646_abnormal_pituitary_gland0.78007745
117* MP0008469_abnormal_protein_level0.77833786
118MP0005376_homeostasis/metabolism_phenot0.77195899
119* MP0003115_abnormal_respiratory_system0.76465990
120* MP0001286_abnormal_eye_development0.74459538
121MP0005535_abnormal_body_temperature0.73517970
122MP0003938_abnormal_ear_development0.73200844
123MP0002233_abnormal_nose_morphology0.72778690
124MP0009765_abnormal_xenobiotic_induced0.72750821
125MP0003566_abnormal_cell_adhesion0.71952845
126MP0001756_abnormal_urination0.70987395
127MP0003755_abnormal_palate_morphology0.70941158
128MP0002116_abnormal_craniofacial_bone0.70754898
129MP0005501_abnormal_skin_physiology0.70720279
130MP0001661_extended_life_span0.69264908
131MP0010368_abnormal_lymphatic_system0.68823509
132MP0002971_abnormal_brown_adipose0.68531323
133MP0002081_perinatal_lethality0.68458182
134MP0010630_abnormal_cardiac_muscle0.68305112
135MP0004130_abnormal_muscle_cell0.67543480
136MP0000762_abnormal_tongue_morphology0.66599474
137MP0005334_abnormal_fat_pad0.64170098
138MP0005266_abnormal_metabolism0.63143235
139MP0005448_abnormal_energy_balance0.61645897
140MP0006035_abnormal_mitochondrial_morpho0.60787962
141MP0003638_abnormal_response/metabolism_0.59704327
142MP0009384_cardiac_valve_regurgitation0.59048771
143MP0000639_abnormal_adrenal_gland0.58864173
144MP0002928_abnormal_bile_duct0.56683260
145MP0009053_abnormal_anal_canal0.53396591
146MP0002136_abnormal_kidney_physiology0.53116342
147MP0004043_abnormal_pH_regulation0.51454299
148MP0005395_other_phenotype0.50337011
149MP0003075_altered_response_to0.47497809
150* MP0003953_abnormal_hormone_level0.47466478
151MP0002796_impaired_skin_barrier0.45626765
152MP0003718_maternal_effect0.44703596
153MP0000579_abnormal_nail_morphology0.42337633
154MP0005666_abnormal_adipose_tissue0.40325792
155MP0002822_catalepsy0.39523845
156MP0004264_abnormal_extraembryonic_tissu0.39002397
157MP0005058_abnormal_lysosome_morphology0.38663760
158MP0009672_abnormal_birth_weight0.38127635
159MP0008872_abnormal_physiological_respon0.37991457
160MP0008874_decreased_physiological_sensi0.37960365
161MP0005248_abnormal_Harderian_gland0.37476394
162MP0001944_abnormal_pancreas_morphology0.36378000
163MP0002168_other_aberrant_phenotype0.35829214
164MP0005166_decreased_susceptibility_to0.35487461
165MP0001853_heart_inflammation0.35024699
166MP0008873_increased_physiological_sensi0.34469292
167MP0004381_abnormal_hair_follicle0.33852164
168MP0000230_abnormal_systemic_arterial0.33625203
169MP0005464_abnormal_platelet_physiology0.32500371
170MP0004782_abnormal_surfactant_physiolog0.32228128
171MP0001765_abnormal_ion_homeostasis0.32152894
172MP0010234_abnormal_vibrissa_follicle0.30665030
173MP0003959_abnormal_lean_body0.29646234
174MP0002970_abnormal_white_adipose0.28477009
175MP0009115_abnormal_fat_cell0.27320672
176MP0002837_dystrophic_cardiac_calcinosis0.26763648
177MP0002090_abnormal_vision0.25863453
178MP0001881_abnormal_mammary_gland0.24852163
179MP0004883_abnormal_blood_vessel0.24383040
180MP0005167_abnormal_blood-brain_barrier0.22567262
181* MP0002135_abnormal_kidney_morphology0.22207586
182MP0003436_decreased_susceptibility_to0.20950783

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.37551854
2Intrahepatic cholestasis (HP:0001406)7.26853942
3Deep venous thrombosis (HP:0002625)7.00694328
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.57856653
5Xanthomatosis (HP:0000991)6.19270701
6Prolonged partial thromboplastin time (HP:0003645)6.18921626
7Hypobetalipoproteinemia (HP:0003563)6.03986332
8Hyperlipoproteinemia (HP:0010980)5.49884432
9Complement deficiency (HP:0004431)5.11026203
10Hyperglycinemia (HP:0002154)4.79383140
11Hyperammonemia (HP:0001987)4.77411776
12Hypolipoproteinemia (HP:0010981)4.65054083
13Ketosis (HP:0001946)4.56720205
14Joint hemorrhage (HP:0005261)4.48842235
15Hyperglycinuria (HP:0003108)4.48371425
16Abnormality of glycine metabolism (HP:0010895)4.38187223
17Abnormality of serine family amino acid metabolism (HP:0010894)4.38187223
18Fat malabsorption (HP:0002630)4.34466955
19Abnormality of the common coagulation pathway (HP:0010990)4.32956538
20Abnormality of glutamine family amino acid metabolism (HP:0010902)4.31353199
21Epidermoid cyst (HP:0200040)4.29353079
22Abnormality of methionine metabolism (HP:0010901)4.29225477
23Abnormality of aspartate family amino acid metabolism (HP:0010899)4.24060130
24Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.20056007
25Hypoalphalipoproteinemia (HP:0003233)4.17770611
26* Abnormality of sulfur amino acid metabolism (HP:0004339)4.11709557
27Hypoglycemic coma (HP:0001325)4.09096847
28Abnormality of the intrinsic pathway (HP:0010989)3.78793129
29Abnormality of pyrimidine metabolism (HP:0004353)3.72910305
30Conjugated hyperbilirubinemia (HP:0002908)3.70003104
31Birth length less than 3rd percentile (HP:0003561)3.67227914
32Abnormality of complement system (HP:0005339)3.67218270
33Ketoacidosis (HP:0001993)3.51437142
34Steatorrhea (HP:0002570)3.40860092
35Hypercholesterolemia (HP:0003124)3.40516323
36Abnormality of fatty-acid metabolism (HP:0004359)3.39682153
37Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.31457902
38Delayed CNS myelination (HP:0002188)3.29365605
39Cortical dysplasia (HP:0002539)3.21501097
40Hyperbilirubinemia (HP:0002904)3.21344112
41Abnormality of nucleobase metabolism (HP:0010932)3.19210737
42Abnormality of serum amino acid levels (HP:0003112)3.19159338
43Chromosomal breakage induced by crosslinking agents (HP:0003221)3.17220440
44Gout (HP:0001997)3.14242633
45Abnormality of purine metabolism (HP:0004352)2.92360953
46Chromsome breakage (HP:0040012)2.91201788
47Metabolic acidosis (HP:0001942)2.85732078
48Hepatocellular carcinoma (HP:0001402)2.83186767
49Choanal stenosis (HP:0000452)2.82290483
50Spontaneous abortion (HP:0005268)2.80741969
51Dicarboxylic aciduria (HP:0003215)2.80557791
52Abnormality of dicarboxylic acid metabolism (HP:0010995)2.80557791
53Hypoglycemic seizures (HP:0002173)2.75835026
54Increased nuchal translucency (HP:0010880)2.75795715
55Lethargy (HP:0001254)2.75468225
56Hypochromic microcytic anemia (HP:0004840)2.72928897
57Vascular calcification (HP:0004934)2.69776885
58Skin nodule (HP:0200036)2.68939089
59Hyperacusis (HP:0010780)2.50210068
60Systemic lupus erythematosus (HP:0002725)2.49336371
61Late onset (HP:0003584)2.48633955
62Spastic diplegia (HP:0001264)2.46596115
63Reticulocytopenia (HP:0001896)2.45557495
64Irritability (HP:0000737)2.45125665
65Duplication of thumb phalanx (HP:0009942)2.44365917
66Abnormality of cochlea (HP:0000375)2.43370570
67Cerebral edema (HP:0002181)2.41835691
68Malnutrition (HP:0004395)2.40080469
69Neonatal onset (HP:0003623)2.39254055
70Cardiovascular calcification (HP:0011915)2.37279199
71Hepatoblastoma (HP:0002884)2.32763096
72Hyperinsulinemic hypoglycemia (HP:0000825)2.31317576
73Sensorimotor neuropathy (HP:0007141)2.29764744
74Overriding aorta (HP:0002623)2.29516751
75Generalized aminoaciduria (HP:0002909)2.29455588
76Acanthocytosis (HP:0001927)2.29333600
77Abnormal gallbladder morphology (HP:0012437)2.29323826
78Mitral stenosis (HP:0001718)2.29263816
79Amyloidosis (HP:0011034)2.28937902
80Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.28628980
81Abnormality of alanine metabolism (HP:0010916)2.28628980
82Hyperalaninemia (HP:0003348)2.28628980
83Enlarged kidneys (HP:0000105)2.28436090
84Insomnia (HP:0100785)2.25072697
85Glomerulonephritis (HP:0000099)2.22659345
86Cholelithiasis (HP:0001081)2.21766890
87Vomiting (HP:0002013)2.19021824
88Turricephaly (HP:0000262)2.17697167
89Nephroblastoma (Wilms tumor) (HP:0002667)2.17130086
90Selective tooth agenesis (HP:0001592)2.16227378
91Absent radius (HP:0003974)2.15324893
92Multiple enchondromatosis (HP:0005701)2.14153805
93Truncus arteriosus (HP:0001660)2.11370475
94Abnormality of the labia minora (HP:0012880)2.10292636
95Abnormality of glycolysis (HP:0004366)2.10249014
96Dysmetric saccades (HP:0000641)2.09954219
97Brushfield spots (HP:0001088)2.09402285
98Abnormal lung lobation (HP:0002101)2.09178673
99Abnormality of reticulocytes (HP:0004312)2.08651368
100Opisthotonus (HP:0002179)2.07389023
101Hydroxyprolinuria (HP:0003080)2.07365313
102Abnormality of proline metabolism (HP:0010907)2.07365313
103Ulnar bowing (HP:0003031)2.06327092
104Alkalosis (HP:0001948)2.06225061
105* Pancreatitis (HP:0001733)2.04368914
106Rickets (HP:0002748)2.03782641
107Cholecystitis (HP:0001082)2.03492360
108Abnormal gallbladder physiology (HP:0012438)2.03492360
109Vaginal fistula (HP:0004320)2.02661466
110Hyperuricemia (HP:0002149)2.02556864
111Increased purine levels (HP:0004368)2.02556864
112Partial duplication of thumb phalanx (HP:0009944)2.02455564
113Recurrent gram-negative bacterial infections (HP:0005420)2.01324200
114Proximal tubulopathy (HP:0000114)2.00848436
115Abnormality of the umbilical cord (HP:0010881)2.00654631
116Progressive muscle weakness (HP:0003323)1.99160998
117* Myocardial infarction (HP:0001658)1.98990370
118Absent forearm bone (HP:0003953)1.98964475
119Aplasia involving forearm bones (HP:0009822)1.98964475
120Embryonal renal neoplasm (HP:0011794)1.98949675
121Shallow orbits (HP:0000586)1.96919146
122Menorrhagia (HP:0000132)1.95875356
123Status epilepticus (HP:0002133)1.95653422
124Bowel incontinence (HP:0002607)1.94980951
125Gingival bleeding (HP:0000225)1.93574187
126Abnormal enzyme/coenzyme activity (HP:0012379)1.93108452
127Renal duplication (HP:0000075)1.92497033
128Abnormal cartilage morphology (HP:0002763)1.92133757
129High anterior hairline (HP:0009890)1.91249677
130Reticulocytosis (HP:0001923)1.91169519
131Abnormality of the gallbladder (HP:0005264)1.90140873
132Aplasia/Hypoplasia of the sternum (HP:0006714)1.88522155
133Long palpebral fissure (HP:0000637)1.85544342
134Symptomatic seizures (HP:0011145)1.85096859
135Abnormal number of incisors (HP:0011064)1.83952323
136Hemorrhage of the eye (HP:0011885)1.83886838
137Breast hypoplasia (HP:0003187)1.83781606
138Abnormality of vitamin metabolism (HP:0100508)1.83769740
139Hypophosphatemic rickets (HP:0004912)1.83480408
140Back pain (HP:0003418)1.83325100
141Increased serum pyruvate (HP:0003542)1.82054069
142Glycosuria (HP:0003076)1.80581700
143Abnormality of urine glucose concentration (HP:0011016)1.80581700
144Abnormal large intestine physiology (HP:0012700)1.80511528
145Abnormality of the calcaneus (HP:0008364)1.80473460
146Renal cortical cysts (HP:0000803)1.80376663
147Pseudobulbar signs (HP:0002200)1.80168177
148Thin ribs (HP:0000883)1.79620927
149Neonatal hypoglycemia (HP:0001998)1.79380036
150Abnormal umbilical cord blood vessels (HP:0011403)1.78912691
151Single umbilical artery (HP:0001195)1.78912691
152Abnormality of the fetal cardiovascular system (HP:0010948)1.78912691
153Preauricular skin tag (HP:0000384)1.78630576
154Acute hepatic failure (HP:0006554)1.76937941
155Asymmetry of the thorax (HP:0001555)1.75686600
156Bronchomalacia (HP:0002780)1.74307953
157Renovascular hypertension (HP:0100817)1.73189771
158Elfin facies (HP:0004428)1.71396644
159Septate vagina (HP:0001153)1.70602913
160Arnold-Chiari malformation (HP:0002308)1.70422409
161Megaloblastic anemia (HP:0001889)1.70121201
162Transposition of the great arteries (HP:0001669)1.69263118
163Abnormal connection of the cardiac segments (HP:0011545)1.69263118
164Abnormal ventriculo-arterial connection (HP:0011563)1.69263118
165Morphological abnormality of the inner ear (HP:0011390)1.69006173
166Partial duplication of the phalanx of hand (HP:0009999)1.68275864
167Calcaneovalgus deformity (HP:0001848)1.67493293
168Bifid scrotum (HP:0000048)1.66950637
169Embryonal neoplasm (HP:0002898)1.66678040
170Horseshoe kidney (HP:0000085)1.65647462
171Coronal craniosynostosis (HP:0004440)1.65240984
172Aplasia/Hypoplasia of the sacrum (HP:0008517)1.63959728
173Hyperthyroidism (HP:0000836)1.62680496
174Abnormality of subcutaneous fat tissue (HP:0001001)1.61517175
175Hemangiomatosis (HP:0007461)1.61444471
176Abnormality of the carotid arteries (HP:0005344)1.61266001
177Intestinal fistula (HP:0100819)1.61146733
178Hypoparathyroidism (HP:0000829)1.60667496
179Flat cornea (HP:0007720)1.60322459
180Cheekbone underdevelopment (HP:0010669)1.59757906

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.83603252
2EEF2K4.73193789
3SIK14.63306393
4ERN14.61931688
5FGFR44.17942486
6SMG14.10236073
7TAOK33.31771175
8TTK3.24991018
9INSRR3.22643716
10CDC73.18400428
11ERBB42.61668941
12TRIB32.54118367
13BUB12.41594704
14CDK122.37062301
15VRK22.32715235
16PKN22.03096689
17RPS6KB21.99439017
18SRPK11.96177851
19LATS11.93868273
20TSSK61.92546977
21MST1R1.91263765
22MAP2K41.91185898
23TAF11.82566174
24MAPK111.75586119
25CAMK1G1.67870938
26LATS21.65704965
27FLT31.63568029
28PIK3CG1.62595321
29CHEK21.59647409
30PRKD31.55358516
31PBK1.52620774
32PTK61.48728734
33CDK71.41775413
34MAPK151.34509856
35DAPK21.33765809
36PINK11.32574580
37FRK1.29479381
38ATR1.24899355
39TYK21.24587912
40NEK11.24225600
41TYRO31.24092701
42STK38L1.23254246
43FGFR21.23073717
44NEK21.22728066
45MKNK11.21729057
46PLK31.20366134
47ABL21.20170867
48WEE11.17997691
49MAP3K71.15726844
50PAK41.13956671
51GRK61.12952188
52IRAK31.12231969
53MAP3K81.11627689
54BRSK11.10349773
55EIF2AK11.09397258
56NTRK11.08455017
57NEK91.06001076
58JAK21.02833480
59PRKAA21.02178493
60MAP3K91.01725012
61CHEK11.00690064
62ERBB20.99056129
63AURKA0.98744565
64PLK10.98407027
65ALK0.98017689
66PLK40.96257053
67EPHA40.96045780
68DYRK20.95646649
69KDR0.94087814
70MET0.93983018
71BRSK20.93789804
72BRAF0.92397254
73PRKCZ0.89947543
74KSR20.88050209
75CDK20.85307300
76MAPK120.83480337
77ZAK0.82823969
78CDK10.82128411
79PASK0.80996542
80AURKB0.80773541
81MAP2K20.80179874
82NME20.79907625
83MKNK20.77488719
84SGK30.75870171
85MAPK40.75749392
86BRD40.74715784
87EPHB10.73827277
88PRKACG0.72503214
89PRKAA10.71268940
90JAK10.71122664
91SCYL20.70874048
92ATM0.70486779
93DYRK1B0.70474312
94CSNK1E0.68131874
95GSK3A0.66446643
96FGFR10.66424091
97SGK20.66279167
98CAMK2G0.65785870
99PTK20.65690669
100SGK4940.65227177
101SGK2230.65227177
102TBK10.65124442
103DYRK30.64929493
104CDK90.64894241
105RIPK10.62631462
106MAP3K30.62203961
107EPHA30.61914398
108CLK10.61025216
109LMTK20.60420710
110NME10.60191302
111MAP2K60.59946981
112STK40.59605049
113MAP3K100.59463291
114MAPK70.59417326
115AKT20.58683224
116CDK60.58478855
117PRKDC0.55020027
118PDPK10.54734412
119MAP2K10.54480016
120MAP2K30.54260991
121PAK20.53126034
122MAP3K140.52208453
123MAP3K110.51810796
124EIF2AK20.51145435
125CAMK1D0.50836677
126RPS6KA10.50064323
127WNK30.49683657
128PDK40.49377281
129PDK30.49377281
130IRAK20.49106606
131CSK0.48551167
132IRAK10.48343313
133GSK3B0.48029510
134STK30.47942993
135FGFR30.47774731
136RPS6KB10.47231543
137TIE10.46551748
138PRKCG0.45398871
139MAPKAPK50.45283209
140TAOK20.43986360
141IGF1R0.43353276
142AKT10.42990023
143WNK40.42874087
144PHKG20.42515094
145PHKG10.42515094
146CDK11A0.42485682
147MAPK140.42448001
148ICK0.42118573
149NEK60.41962095
150CDK150.41761282
151MTOR0.41700013
152GRK10.40697021
153MAPK100.40429975
154PRKCQ0.39941165
155RAF10.39100453
156CDK180.37310107
157CSNK2A20.36906149
158DAPK10.36548923
159PIM10.36087072
160STK380.33905425
161VRK10.33842422
162ARAF0.33426839
163MUSK0.33006528
164AKT30.32945836
165RET0.32443173
166CSNK1G10.31271572
167PRKCA0.29674693
168PDK10.29421617
169MAP3K20.28575027
170MAP3K10.28265494
171CDK40.27572177
172PIK3CA0.27161670
173EGFR0.26878669
174EPHA20.25789931
175PAK30.25073735
176BMX0.24098132
177CSNK1G20.23627753
178PKN10.23425281
179PDGFRA0.22547660

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.31488668
2Nitrogen metabolism_Homo sapiens_hsa009103.77552322
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.25778972
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.21512927
5Arginine biosynthesis_Homo sapiens_hsa002202.98713008
6DNA replication_Homo sapiens_hsa030302.81880623
7Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.70768680
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.67009765
9Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.66440656
10Tryptophan metabolism_Homo sapiens_hsa003802.64457633
11Fatty acid degradation_Homo sapiens_hsa000712.57069365
12Complement and coagulation cascades_Homo sapiens_hsa046102.56678402
13* Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.56040426
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.53806750
15Butanoate metabolism_Homo sapiens_hsa006502.25024008
16Pentose and glucuronate interconversions_Homo sapiens_hsa000402.17853999
17Peroxisome_Homo sapiens_hsa041462.09032241
18Propanoate metabolism_Homo sapiens_hsa006402.07534926
19Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.01110173
20Mismatch repair_Homo sapiens_hsa034301.93513865
21Fatty acid metabolism_Homo sapiens_hsa012121.90949210
22PPAR signaling pathway_Homo sapiens_hsa033201.83927154
23Histidine metabolism_Homo sapiens_hsa003401.83790096
24Chemical carcinogenesis_Homo sapiens_hsa052041.83293458
25Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.80394375
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.78077449
27Steroid hormone biosynthesis_Homo sapiens_hsa001401.76288650
28Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.71957485
29beta-Alanine metabolism_Homo sapiens_hsa004101.71133843
30Base excision repair_Homo sapiens_hsa034101.67753287
31Drug metabolism - other enzymes_Homo sapiens_hsa009831.65557658
32Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.61032982
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.60249754
34Selenocompound metabolism_Homo sapiens_hsa004501.58842461
35RNA transport_Homo sapiens_hsa030131.58666569
36Spliceosome_Homo sapiens_hsa030401.56797240
37Retinol metabolism_Homo sapiens_hsa008301.56222934
38Staphylococcus aureus infection_Homo sapiens_hsa051501.53135769
39Sulfur metabolism_Homo sapiens_hsa009201.52388734
40Bile secretion_Homo sapiens_hsa049761.49616918
41Caffeine metabolism_Homo sapiens_hsa002321.49577700
42Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.48656871
43Phenylalanine metabolism_Homo sapiens_hsa003601.47639684
44Cell cycle_Homo sapiens_hsa041101.45600788
45mRNA surveillance pathway_Homo sapiens_hsa030151.43717955
46Pyruvate metabolism_Homo sapiens_hsa006201.42649380
47Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.39064325
48Tyrosine metabolism_Homo sapiens_hsa003501.35819816
49Fat digestion and absorption_Homo sapiens_hsa049751.34371385
50Steroid biosynthesis_Homo sapiens_hsa001001.34133272
51Folate biosynthesis_Homo sapiens_hsa007901.33062006
52Fatty acid elongation_Homo sapiens_hsa000621.30707762
53Starch and sucrose metabolism_Homo sapiens_hsa005001.27798968
54Maturity onset diabetes of the young_Homo sapiens_hsa049501.24802034
55Cyanoamino acid metabolism_Homo sapiens_hsa004601.22946870
56* Cysteine and methionine metabolism_Homo sapiens_hsa002701.22605972
57Thyroid cancer_Homo sapiens_hsa052161.21016687
58* Biosynthesis of amino acids_Homo sapiens_hsa012301.20042740
59Carbon metabolism_Homo sapiens_hsa012001.18451766
60ABC transporters_Homo sapiens_hsa020101.13005188
61Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.10988761
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.10635059
63Arginine and proline metabolism_Homo sapiens_hsa003301.06853961
64Homologous recombination_Homo sapiens_hsa034401.03239653
65Nucleotide excision repair_Homo sapiens_hsa034201.03028822
66Sulfur relay system_Homo sapiens_hsa041221.01348515
67Vitamin digestion and absorption_Homo sapiens_hsa049770.99923287
68Non-homologous end-joining_Homo sapiens_hsa034500.94817380
69Vitamin B6 metabolism_Homo sapiens_hsa007500.93632520
70Ribosome_Homo sapiens_hsa030100.88840419
71Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.83834680
72Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.82617326
73Glycerolipid metabolism_Homo sapiens_hsa005610.82354587
74Lysine degradation_Homo sapiens_hsa003100.81280429
75One carbon pool by folate_Homo sapiens_hsa006700.79258420
76Fanconi anemia pathway_Homo sapiens_hsa034600.74019898
77Fatty acid biosynthesis_Homo sapiens_hsa000610.73490054
78Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.73025790
79Pyrimidine metabolism_Homo sapiens_hsa002400.72117682
80Glutathione metabolism_Homo sapiens_hsa004800.69001895
81RNA polymerase_Homo sapiens_hsa030200.68775778
82Basal cell carcinoma_Homo sapiens_hsa052170.64120472
83Adherens junction_Homo sapiens_hsa045200.62990877
84Basal transcription factors_Homo sapiens_hsa030220.60455878
85MicroRNAs in cancer_Homo sapiens_hsa052060.59928686
86Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.59403415
87Hippo signaling pathway_Homo sapiens_hsa043900.59116254
88Pentose phosphate pathway_Homo sapiens_hsa000300.58738553
89Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.51902477
90Bladder cancer_Homo sapiens_hsa052190.50998350
91* Metabolic pathways_Homo sapiens_hsa011000.48958978
92Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48529099
93RNA degradation_Homo sapiens_hsa030180.45575931
94Chronic myeloid leukemia_Homo sapiens_hsa052200.44236730
95Endometrial cancer_Homo sapiens_hsa052130.42614930
96Wnt signaling pathway_Homo sapiens_hsa043100.41902149
97Tight junction_Homo sapiens_hsa045300.37876666
98Thyroid hormone signaling pathway_Homo sapiens_hsa049190.36528625
99Fructose and mannose metabolism_Homo sapiens_hsa000510.35573887
100Prostate cancer_Homo sapiens_hsa052150.35313127
101Purine metabolism_Homo sapiens_hsa002300.34893329
102alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.33584124
103Prion diseases_Homo sapiens_hsa050200.33179624
104Oocyte meiosis_Homo sapiens_hsa041140.31717601
105Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.30700236
106N-Glycan biosynthesis_Homo sapiens_hsa005100.30541814
107Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.30189853
108Galactose metabolism_Homo sapiens_hsa000520.29201506
109Insulin resistance_Homo sapiens_hsa049310.24100039
110Linoleic acid metabolism_Homo sapiens_hsa005910.24016307
111Adipocytokine signaling pathway_Homo sapiens_hsa049200.22816534
112Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.18841257
113Glycerophospholipid metabolism_Homo sapiens_hsa005640.18806538
114Glucagon signaling pathway_Homo sapiens_hsa049220.10666631
115AMPK signaling pathway_Homo sapiens_hsa041520.00958399
116Protein digestion and absorption_Homo sapiens_hsa049740.00294290
117Ether lipid metabolism_Homo sapiens_hsa00565-0.2036046
118Mineral absorption_Homo sapiens_hsa04978-0.1988752
119Circadian rhythm_Homo sapiens_hsa04710-0.1974704
120Hepatitis C_Homo sapiens_hsa05160-0.1935129
121African trypanosomiasis_Homo sapiens_hsa05143-0.1786276
122Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1613625
123Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1456198
124Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1439227
125Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1175622
126Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1111595
127Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1094531
128Regulation of autophagy_Homo sapiens_hsa04140-0.1021157
129Renin-angiotensin system_Homo sapiens_hsa04614-0.1019621
130Insulin signaling pathway_Homo sapiens_hsa04910-0.0956633
131Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0813975
132Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0689570
133Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0680594
134Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0559241
135Pancreatic secretion_Homo sapiens_hsa04972-0.0329201
136Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0150996

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