PCCA

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 is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms 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)6.75215029
2L-phenylalanine catabolic process (GO:0006559)6.75215029
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.54049090
4L-phenylalanine metabolic process (GO:0006558)6.54049090
5aromatic amino acid family catabolic process (GO:0009074)6.07568161
6lysine metabolic process (GO:0006553)5.67915170
7lysine catabolic process (GO:0006554)5.67915170
8indole-containing compound catabolic process (GO:0042436)5.55472300
9indolalkylamine catabolic process (GO:0046218)5.55472300
10tryptophan catabolic process (GO:0006569)5.55472300
11glyoxylate metabolic process (GO:0046487)5.49571082
12kynurenine metabolic process (GO:0070189)5.40673616
13alpha-linolenic acid metabolic process (GO:0036109)5.31710450
14triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.29703923
15tryptophan metabolic process (GO:0006568)5.24473593
16fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.23361112
17cysteine metabolic process (GO:0006534)5.17037848
18bile acid biosynthetic process (GO:0006699)5.15188290
19sulfur amino acid catabolic process (GO:0000098)5.05146472
20amino-acid betaine metabolic process (GO:0006577)4.84265384
21homocysteine metabolic process (GO:0050667)4.74887543
22serine family amino acid catabolic process (GO:0009071)4.72871815
23urea cycle (GO:0000050)4.67848162
24urea metabolic process (GO:0019627)4.67848162
25regulation of triglyceride catabolic process (GO:0010896)4.65790395
26* fatty acid beta-oxidation (GO:0006635)4.61923865
27cellular ketone body metabolic process (GO:0046950)4.58952899
28valine metabolic process (GO:0006573)4.54572571
29alpha-amino acid catabolic process (GO:1901606)4.49738660
30complement activation, alternative pathway (GO:0006957)4.49332739
31* short-chain fatty acid metabolic process (GO:0046459)4.46595421
32high-density lipoprotein particle remodeling (GO:0034375)4.45517695
33branched-chain amino acid catabolic process (GO:0009083)4.42387939
34aromatic amino acid family metabolic process (GO:0009072)4.41048704
35* fatty acid oxidation (GO:0019395)4.37189353
36bile acid metabolic process (GO:0008206)4.37079087
372-oxoglutarate metabolic process (GO:0006103)4.35830779
38pyrimidine nucleobase catabolic process (GO:0006208)4.35792678
39nitrogen cycle metabolic process (GO:0071941)4.35385713
40acetyl-CoA metabolic process (GO:0006084)4.33067559
41protein carboxylation (GO:0018214)4.31097552
42peptidyl-glutamic acid carboxylation (GO:0017187)4.31097552
43* lipid oxidation (GO:0034440)4.30113546
44aspartate family amino acid catabolic process (GO:0009068)4.29808965
45cellular amino acid catabolic process (GO:0009063)4.29386150
46regulation of protein activation cascade (GO:2000257)4.29346734
47exogenous drug catabolic process (GO:0042738)4.27257292
48* fatty acid catabolic process (GO:0009062)4.24628857
49behavioral response to nicotine (GO:0035095)4.22157789
50branched-chain amino acid metabolic process (GO:0009081)4.18372376
51cellular modified amino acid catabolic process (GO:0042219)4.17569280
52negative regulation of fibrinolysis (GO:0051918)4.15975180
53triglyceride homeostasis (GO:0070328)4.14107516
54acylglycerol homeostasis (GO:0055090)4.14107516
55ethanol oxidation (GO:0006069)4.10707139
56* monocarboxylic acid catabolic process (GO:0072329)4.09960942
57regulation of complement activation (GO:0030449)4.05542757
58coenzyme catabolic process (GO:0009109)4.05320019
59tyrosine metabolic process (GO:0006570)4.03781880
60* organic acid catabolic process (GO:0016054)4.02402479
61* carboxylic acid catabolic process (GO:0046395)4.02402479
62carnitine metabolic process (GO:0009437)4.02401067
63regulation of fibrinolysis (GO:0051917)3.99879062
64reverse cholesterol transport (GO:0043691)3.97898565
65intraciliary transport (GO:0042073)3.97592370
66ketone body metabolic process (GO:1902224)3.94585369
67protein-lipid complex remodeling (GO:0034368)3.94302595
68macromolecular complex remodeling (GO:0034367)3.94302595
69plasma lipoprotein particle remodeling (GO:0034369)3.94302595
70fatty acid transmembrane transport (GO:1902001)3.92873740
71indolalkylamine metabolic process (GO:0006586)3.90894013
72plasma lipoprotein particle clearance (GO:0034381)3.90475356
73positive regulation of fatty acid beta-oxidation (GO:0032000)3.87792073
74glutamate metabolic process (GO:0006536)3.86608485
75serine family amino acid metabolic process (GO:0009069)3.84291045
76amine catabolic process (GO:0009310)3.83416406
77cellular biogenic amine catabolic process (GO:0042402)3.83416406
78regulation of cholesterol esterification (GO:0010872)3.80890105
79glycine metabolic process (GO:0006544)3.78063586
80dicarboxylic acid biosynthetic process (GO:0043650)3.77094787
81benzene-containing compound metabolic process (GO:0042537)3.74411366
82drug transmembrane transport (GO:0006855)3.74356736
83drug catabolic process (GO:0042737)3.68366666
84positive regulation of lipid catabolic process (GO:0050996)3.67447823
85negative regulation of sterol transport (GO:0032372)3.66967154
86negative regulation of cholesterol transport (GO:0032375)3.66967154
87* biotin metabolic process (GO:0006768)3.66642088
88nucleobase catabolic process (GO:0046113)3.65974362
89phospholipid homeostasis (GO:0055091)3.65387786
90carnitine shuttle (GO:0006853)3.65001031
91regulation of sequestering of triglyceride (GO:0010889)3.64129148
92cellular glucuronidation (GO:0052695)3.61947608
93phospholipid efflux (GO:0033700)3.60134052
94urate metabolic process (GO:0046415)3.57733283
95positive regulation of fatty acid oxidation (GO:0046321)3.54588890
96oxidative demethylation (GO:0070989)3.52851886
97bile acid and bile salt transport (GO:0015721)3.49866933
98serine family amino acid biosynthetic process (GO:0009070)3.47370910
99regulation of cholesterol metabolic process (GO:0090181)3.45077657
100tricarboxylic acid metabolic process (GO:0072350)3.41869247
101epithelial cilium movement (GO:0003351)3.41338282
102* small molecule catabolic process (GO:0044282)3.36559315
103imidazole-containing compound metabolic process (GO:0052803)3.36503011
104epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.35891010
105succinate metabolic process (GO:0006105)3.34763914
106regulation of fatty acid beta-oxidation (GO:0031998)3.33030627
107negative regulation of lipase activity (GO:0060192)3.32912894
108low-density lipoprotein particle remodeling (GO:0034374)3.31094004
109cilium movement (GO:0003341)3.29720056
110epoxygenase P450 pathway (GO:0019373)3.02333868
111L-fucose catabolic process (GO:0042355)2.96344686
112fucose catabolic process (GO:0019317)2.96344686
113L-fucose metabolic process (GO:0042354)2.96344686
114protein polyglutamylation (GO:0018095)2.96109601
115nonmotile primary cilium assembly (GO:0035058)2.90826728
116neural tube formation (GO:0001841)2.86556943
117gamma-aminobutyric acid transport (GO:0015812)2.85091129
118water-soluble vitamin biosynthetic process (GO:0042364)2.83146057
119detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.82549183
120photoreceptor cell maintenance (GO:0045494)2.80549774
121omega-hydroxylase P450 pathway (GO:0097267)2.80237009
122uronic acid metabolic process (GO:0006063)2.71586752
123glucuronate metabolic process (GO:0019585)2.71586752
124axonemal dynein complex assembly (GO:0070286)2.67804451
125cilium morphogenesis (GO:0060271)2.67085562
126retinal ganglion cell axon guidance (GO:0031290)2.65359164
127cilium organization (GO:0044782)2.64307956
128cilium assembly (GO:0042384)2.63349484
129drug metabolic process (GO:0017144)2.63254989
130axoneme assembly (GO:0035082)2.61998342
131response to nitrosative stress (GO:0051409)2.58734572
132regulation of hexokinase activity (GO:1903299)2.57530461
133regulation of glucokinase activity (GO:0033131)2.57530461
134calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.56237911
135S-adenosylmethionine metabolic process (GO:0046500)2.56170070
136cilium or flagellum-dependent cell motility (GO:0001539)2.53675511
137negative regulation of cytosolic calcium ion concentration (GO:0051481)2.53578068
138regulation of cilium movement (GO:0003352)2.51788254
139L-serine metabolic process (GO:0006563)2.50522292
140presynaptic membrane assembly (GO:0097105)2.49956423
141inner ear receptor stereocilium organization (GO:0060122)2.49516920
142regulation of non-canonical Wnt signaling pathway (GO:2000050)2.48061766
143regulation of action potential (GO:0098900)2.45434072
144protein neddylation (GO:0045116)2.43012563
145G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.42030954
146dorsal/ventral axis specification (GO:0009950)2.41707084
147C4-dicarboxylate transport (GO:0015740)2.39584937
148phenylpropanoid metabolic process (GO:0009698)2.38407610
149somite development (GO:0061053)2.37239929
150reflex (GO:0060004)2.37023987
151detection of light stimulus involved in sensory perception (GO:0050962)2.36798618
152detection of light stimulus involved in visual perception (GO:0050908)2.36798618
153negative regulation of transcription regulatory region DNA binding (GO:2000678)2.36543564
154olfactory bulb development (GO:0021772)2.36103499
155cellular response to sterol (GO:0036315)2.36089106
156behavioral response to ethanol (GO:0048149)2.33911343
157regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.33183479
158short-term memory (GO:0007614)2.32335558
159arginine metabolic process (GO:0006525)2.30650032
160alkaloid metabolic process (GO:0009820)2.26999593
161nephron tubule morphogenesis (GO:0072078)2.25773939
162nephron epithelium morphogenesis (GO:0072088)2.25773939
163ubiquinone metabolic process (GO:0006743)2.25391054
164limb development (GO:0060173)2.25067507
165appendage development (GO:0048736)2.25067507
166presynaptic membrane organization (GO:0097090)2.24921413
167limb bud formation (GO:0060174)2.24793646
168neurotransmitter-gated ion channel clustering (GO:0072578)2.24500625
169amino acid salvage (GO:0043102)2.22846031
170L-methionine salvage (GO:0071267)2.22846031
171L-methionine biosynthetic process (GO:0071265)2.22846031
172smoothened signaling pathway (GO:0007224)2.22208498
173regulation of gene silencing by RNA (GO:0060966)2.21203226
174regulation of posttranscriptional gene silencing (GO:0060147)2.21203226
175regulation of gene silencing by miRNA (GO:0060964)2.21203226
176dopamine transport (GO:0015872)2.20525082
177determination of left/right symmetry (GO:0007368)2.20156624

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse7.67558160
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse7.26149889
3* PPARA_22158963_ChIP-Seq_LIVER_Mouse6.70197160
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.03945106
5* EGR1_23403033_ChIP-Seq_LIVER_Mouse5.84701270
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.91091350
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.37184953
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.83244488
9GBX2_23144817_ChIP-Seq_PC3_Human3.58598965
10EZH2_22144423_ChIP-Seq_EOC_Human3.51662950
11CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.47476977
12* TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.44535936
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.06258285
14ZNF274_21170338_ChIP-Seq_K562_Hela2.68682277
15GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.66500308
16HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.61327367
17* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.49929850
18POU3F2_20337985_ChIP-ChIP_501MEL_Human2.44821252
19SALL1_21062744_ChIP-ChIP_HESCs_Human2.33564734
20VDR_22108803_ChIP-Seq_LS180_Human2.33409511
21ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.28704629
22IGF1R_20145208_ChIP-Seq_DFB_Human2.26217180
23TAF15_26573619_Chip-Seq_HEK293_Human2.26193023
24CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.24159809
25FUS_26573619_Chip-Seq_HEK293_Human2.22121339
26P300_19829295_ChIP-Seq_ESCs_Human2.20824835
27* HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.12736091
28CTBP2_25329375_ChIP-Seq_LNCAP_Human2.05637852
29TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.04332877
30* ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.7871461
31AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.96138153
32CLOCK_20551151_ChIP-Seq_293T_Human1.94455327
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.89762376
34FLI1_27457419_Chip-Seq_LIVER_Mouse1.87784387
35GATA1_22025678_ChIP-Seq_K562_Human1.85376130
36EWS_26573619_Chip-Seq_HEK293_Human1.82839685
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82356818
38IRF1_19129219_ChIP-ChIP_H3396_Human1.82052320
39ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.77897963
40NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.71645344
41SMAD4_21799915_ChIP-Seq_A2780_Human1.71439684
42RBPJ_22232070_ChIP-Seq_NCS_Mouse1.64727992
43* FOXA2_19822575_ChIP-Seq_HepG2_Human1.61975763
44MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.60245698
45* STAT3_23295773_ChIP-Seq_U87_Human1.57925116
46PCGF2_27294783_Chip-Seq_ESCs_Mouse1.57376353
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.55285180
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.54921801
49* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.52995648
50PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.50776541
51* TCF4_23295773_ChIP-Seq_U87_Human1.49595559
52POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.47646376
53TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.47646376
54SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.47492823
55STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.46987307
56ER_23166858_ChIP-Seq_MCF-7_Human1.46439602
57IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.45772722
58CBP_20019798_ChIP-Seq_JUKART_Human1.45772722
59MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.43488307
60AR_25329375_ChIP-Seq_VCAP_Human1.42003946
61NR3C1_21868756_ChIP-Seq_MCF10A_Human1.41590815
62* HNF4A_19822575_ChIP-Seq_HepG2_Human1.41224115
63PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.40104220
64TOP2B_26459242_ChIP-Seq_MCF-7_Human1.39942598
65PCGF2_27294783_Chip-Seq_NPCs_Mouse1.39706990
66CBX2_27304074_Chip-Seq_ESCs_Mouse1.37149383
67* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.35850851
68TCF4_22108803_ChIP-Seq_LS180_Human1.33155833
69EZH2_27294783_Chip-Seq_NPCs_Mouse1.33099979
70RUNX2_22187159_ChIP-Seq_PCA_Human1.32643111
71SUZ12_27294783_Chip-Seq_NPCs_Mouse1.31410663
72OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30795070
73CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.28984323
74RNF2_27304074_Chip-Seq_NSC_Mouse1.28536707
75ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.28508251
76TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.24519397
77RARG_19884340_ChIP-ChIP_MEFs_Mouse1.24498727
78POU5F1_16153702_ChIP-ChIP_HESCs_Human1.23992032
79TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.23556688
80NFE2_27457419_Chip-Seq_LIVER_Mouse1.23149449
81HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.22600308
82EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.22048898
83REST_21632747_ChIP-Seq_MESCs_Mouse1.20995805
84HTT_18923047_ChIP-ChIP_STHdh_Human1.20788056
85MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.20148779
86NANOG_18555785_Chip-Seq_ESCs_Mouse1.19652232
87SMAD4_21741376_ChIP-Seq_EPCs_Human1.19429931
88* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.17050095
89BMI1_23680149_ChIP-Seq_NPCS_Mouse1.16450910
90TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14357301
91NANOG_19829295_ChIP-Seq_ESCs_Human1.13833918
92SOX2_19829295_ChIP-Seq_ESCs_Human1.13833918
93EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.13760461
94TP53_22573176_ChIP-Seq_HFKS_Human1.13528031
95AR_21572438_ChIP-Seq_LNCaP_Human1.12839221
96THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.09649546
97SOX2_27498859_Chip-Seq_STOMACH_Mouse1.08487457
98CDX2_19796622_ChIP-Seq_MESCs_Mouse1.05991287
99P53_22387025_ChIP-Seq_ESCs_Mouse1.05769313
100IRF8_22096565_ChIP-ChIP_GC-B_Human1.04151051
101IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.03556412
102STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.02890374
103CRX_20693478_ChIP-Seq_RETINA_Mouse1.02838738
104SOX2_21211035_ChIP-Seq_LN229_Gbm1.02837458
105CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.02503633
106CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02381525
107KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.00989916
108E2F1_18555785_Chip-Seq_ESCs_Mouse1.00953410
109TAL1_26923725_Chip-Seq_HPCs_Mouse1.00733275
110FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.98993812
111RXRA_24833708_ChIP-Seq_LIVER_Mouse0.97812361
112FOXA1_21572438_ChIP-Seq_LNCaP_Human0.97402615
113STAT3_18555785_Chip-Seq_ESCs_Mouse0.97295701
114ETV2_25802403_ChIP-Seq_MESCs_Mouse0.96598607
115GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.95022244
116GATA4_25053715_ChIP-Seq_YYC3_Human0.94365125
117FLI1_21867929_ChIP-Seq_TH2_Mouse0.93473933
118OCT4_21477851_ChIP-Seq_ESCs_Mouse0.92957631
119BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.92064862
120STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.91952222
121SMAD3_21741376_ChIP-Seq_ESCs_Human0.91522416
122PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.91494298
123LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91400133
124P300_18555785_Chip-Seq_ESCs_Mouse0.91174541
125TBL1_22424771_ChIP-Seq_293T_Human0.91012649
126P53_22127205_ChIP-Seq_FIBROBLAST_Human0.90913779
127CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.86483802
128ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.86455915
129AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.85511819
130AUTS2_25519132_ChIP-Seq_293T-REX_Human0.85347844
131SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.84977905
132PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.82837468
133TBX20_22080862_ChIP-Seq_HEART_Mouse0.80888111
134TBX20_22328084_ChIP-Seq_HEART_Mouse0.80888111
135TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.80759352
136ZNF263_19887448_ChIP-Seq_K562_Human0.78714848
137ESR1_20079471_ChIP-ChIP_T-47D_Human0.77458074
138NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.76979574
139NRF2_20460467_ChIP-Seq_MEFs_Mouse0.76930062
140NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.76930062
141* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.76535962
142NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.75258682
143PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.73956735
144ESR2_21235772_ChIP-Seq_MCF-7_Human0.71816540
145AR_20517297_ChIP-Seq_VCAP_Human0.71050146
146BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.69734059
147BCAT_22108803_ChIP-Seq_LS180_Human0.67955978
148CEBPB_22108803_ChIP-Seq_LS180_Human0.66402147
149RAD21_21589869_ChIP-Seq_MESCs_Mouse0.63641541
150RARA_24833708_ChIP-Seq_LIVER_Mouse0.63557355
151STAT3_1855785_ChIP-Seq_MESCs_Mouse0.62537989
152ESR1_15608294_ChIP-ChIP_MCF-7_Human0.60191725
153PPAR_26484153_Chip-Seq_NCI-H1993_Human0.59626761
154EGR1_19032775_ChIP-ChIP_M12_Human0.59322265
155KAP1_22055183_ChIP-Seq_ESCs_Mouse0.58858054
156ESR1_21235772_ChIP-Seq_MCF-7_Human0.58313905
157EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.58028599
158CBP_21632823_ChIP-Seq_H3396_Human0.57987728
159SALL4_18804426_ChIP-ChIP_XEN_Mouse0.56678881
160* ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.56503765
161SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.55680552
162PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.55610552
163FOXA1_25552417_ChIP-Seq_VCAP_Human0.54816719
164PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.54707599
165PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.54446698
166ESET_19884257_ChIP-Seq_ESCs_Mouse0.54411600
167FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.54050868
168CDX2_20551321_ChIP-Seq_CACO-2_Human0.53193019
169ERG_20517297_ChIP-Seq_VCAP_Human0.52541213
170PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.51579622
171FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.51003373
172STAT1_17558387_ChIP-Seq_HELA_Human0.49650720
173TAF2_19829295_ChIP-Seq_ESCs_Human0.49589743
174SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.48458707
175EP300_21415370_ChIP-Seq_HL-1_Mouse0.47391255
176LXR_22292898_ChIP-Seq_THP-1_Human0.47357013
177P53_21459846_ChIP-Seq_SAOS-2_Human0.47185713
178CDX2_22108803_ChIP-Seq_LS180_Human0.47160623
179GATA2_19941826_ChIP-Seq_K562_Human0.46842249
180* GATA1_19941827_ChIP-Seq_MEL_Mouse0.46824665
181RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.46775103
182FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.46592561
183FOXO3_23340844_ChIP-Seq_DLD1_Human0.45927313
184MYC_19915707_ChIP-ChIP_AK7_Human0.44746423
185GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.44431441
186GATA6_25053715_ChIP-Seq_YYC3_Human0.44232456
187TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.44040152
188E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.43696109
189ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.43066295
190RARB_24833708_ChIP-Seq_LIVER_Mouse0.42893704
191PIAS1_25552417_ChIP-Seq_VCAP_Human0.41766926
192SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.41459140
193GATA2_21666600_ChIP-Seq_HMVEC_Human0.41157374
194SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.40821786

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.42986263
2MP0005360_urolithiasis7.02147159
3MP0005365_abnormal_bile_salt5.84134972
4MP0005085_abnormal_gallbladder_physiolo5.65586038
5MP0008875_abnormal_xenobiotic_pharmacok4.31430651
6MP0003806_abnormal_nucleotide_metabolis3.75135370
7MP0003252_abnormal_bile_duct3.42230406
8MP0010329_abnormal_lipoprotein_level3.41332940
9MP0005332_abnormal_amino_acid3.16719555
10MP0003195_calcinosis2.90085851
11MP0005083_abnormal_biliary_tract2.82161297
12MP0001666_abnormal_nutrient_absorption2.64684746
13MP0006292_abnormal_olfactory_placode2.60896018
14MP0009840_abnormal_foam_cell2.51703945
15MP0005670_abnormal_white_adipose2.45878808
16MP0003880_abnormal_central_pattern2.45430133
17MP0003890_abnormal_embryonic-extraembry2.34028999
18MP0002118_abnormal_lipid_homeostasis2.26444831
19MP0003136_yellow_coat_color2.24741644
20MP0001485_abnormal_pinna_reflex2.15172835
21MP0003191_abnormal_cellular_cholesterol2.14378566
22MP0004019_abnormal_vitamin_homeostasis2.10682810
23* MP0000609_abnormal_liver_physiology2.05284193
24MP0002653_abnormal_ependyma_morphology1.99280452
25MP0005319_abnormal_enzyme/_coenzyme1.96037532
26MP0000566_synostosis1.94550099
27MP0002837_dystrophic_cardiac_calcinosis1.94180325
28MP0002102_abnormal_ear_morphology1.93019023
29MP0003122_maternal_imprinting1.91311489
30MP0006072_abnormal_retinal_apoptosis1.90591439
31MP0005551_abnormal_eye_electrophysiolog1.88895916
32MP0002138_abnormal_hepatobiliary_system1.87188757
33MP0004130_abnormal_muscle_cell1.82442798
34MP0005584_abnormal_enzyme/coenzyme_acti1.80866423
35MP0001984_abnormal_olfaction1.72582045
36* MP0009643_abnormal_urine_homeostasis1.70341792
37MP0001764_abnormal_homeostasis1.69739197
38MP0003787_abnormal_imprinting1.69629110
39MP0006036_abnormal_mitochondrial_physio1.69234984
40MP0006276_abnormal_autonomic_nervous1.65661756
41MP0001293_anophthalmia1.64190940
42MP0002938_white_spotting1.63566522
43MP0004133_heterotaxia1.62247037
44MP0003868_abnormal_feces_composition1.59432082
45MP0003186_abnormal_redox_activity1.58222077
46MP0008877_abnormal_DNA_methylation1.55515810
47MP0005666_abnormal_adipose_tissue1.53350904
48MP0000778_abnormal_nervous_system1.53164526
49MP0002736_abnormal_nociception_after1.51799277
50MP0001529_abnormal_vocalization1.49333375
51MP0000631_abnormal_neuroendocrine_gland1.44283873
52MP0005253_abnormal_eye_physiology1.43707282
53MP0005377_hearing/vestibular/ear_phenot1.43292674
54MP0003878_abnormal_ear_physiology1.43292674
55MP0001486_abnormal_startle_reflex1.40991264
56MP0005499_abnormal_olfactory_system1.39871383
57MP0005394_taste/olfaction_phenotype1.39871383
58MP0001968_abnormal_touch/_nociception1.38580392
59MP0002971_abnormal_brown_adipose1.38246625
60MP0000569_abnormal_digit_pigmentation1.37223915
61MP0008789_abnormal_olfactory_epithelium1.36893141
62MP0003121_genomic_imprinting1.36877399
63MP0003937_abnormal_limbs/digits/tail_de1.36132658
64MP0010030_abnormal_orbit_morphology1.34153409
65MP0004043_abnormal_pH_regulation1.31257032
66MP0004142_abnormal_muscle_tone1.28952403
67MP0002233_abnormal_nose_morphology1.28843175
68MP0002638_abnormal_pupillary_reflex1.28074815
69MP0009046_muscle_twitch1.26329279
70MP0003567_abnormal_fetal_cardiomyocyte1.24828478
71MP0002234_abnormal_pharynx_morphology1.24670535
72MP0002272_abnormal_nervous_system1.24257972
73MP0009697_abnormal_copulation1.21403477
74MP0003646_muscle_fatigue1.18924539
75MP0002876_abnormal_thyroid_physiology1.18702006
76MP0005535_abnormal_body_temperature1.18657120
77MP0004145_abnormal_muscle_electrophysio1.18126886
78MP0002557_abnormal_social/conspecific_i1.17891806
79MP0009745_abnormal_behavioral_response1.17610246
80MP0010386_abnormal_urinary_bladder1.16223907
81MP0005646_abnormal_pituitary_gland1.15732518
82MP0005636_abnormal_mineral_homeostasis1.15519401
83* MP0002078_abnormal_glucose_homeostasis1.14759326
84MP0001986_abnormal_taste_sensitivity1.14143078
85MP0000049_abnormal_middle_ear1.12110992
86MP0000598_abnormal_liver_morphology1.10665316
87MP0000372_irregular_coat_pigmentation1.08648262
88MP0005647_abnormal_sex_gland1.08181833
89MP0005451_abnormal_body_composition1.06094899
90MP0002735_abnormal_chemical_nociception1.05917808
91MP0005334_abnormal_fat_pad1.05620754
92MP0003656_abnormal_erythrocyte_physiolo1.04923532
93MP0005195_abnormal_posterior_eye1.03013664
94MP0000383_abnormal_hair_follicle1.00979536
95MP0005220_abnormal_exocrine_pancreas1.00450271
96MP0004742_abnormal_vestibular_system1.00283591
97MP0000427_abnormal_hair_cycle0.98373529
98MP0009764_decreased_sensitivity_to0.97648773
99MP0000026_abnormal_inner_ear0.96720227
100MP0003119_abnormal_digestive_system0.95896965
101MP0005084_abnormal_gallbladder_morpholo0.94383650
102MP0006035_abnormal_mitochondrial_morpho0.94153587
103MP0002752_abnormal_somatic_nervous0.93622914
104MP0009642_abnormal_blood_homeostasis0.92668030
105MP0005391_vision/eye_phenotype0.92177439
106MP0003137_abnormal_impulse_conducting0.92121180
107MP0002572_abnormal_emotion/affect_behav0.91623406
108* MP0001756_abnormal_urination0.91215273
109MP0005386_behavior/neurological_phenoty0.90774976
110MP0004924_abnormal_behavior0.90774976
111MP0009763_increased_sensitivity_to0.90561793
112MP0005187_abnormal_penis_morphology0.90277306
113MP0001324_abnormal_eye_pigmentation0.90105928
114MP0003705_abnormal_hypodermis_morpholog0.90083558
115MP0002067_abnormal_sensory_capabilities0.89555378
116MP0004185_abnormal_adipocyte_glucose0.88928086
117MP0003938_abnormal_ear_development0.88830885
118MP0005375_adipose_tissue_phenotype0.87921107
119MP0001286_abnormal_eye_development0.87361113
120MP0002734_abnormal_mechanical_nocicepti0.87084341
121MP0008469_abnormal_protein_level0.85609236
122MP0005423_abnormal_somatic_nervous0.85023354
123MP0000604_amyloidosis0.84689058
124MP0002751_abnormal_autonomic_nervous0.84631307
125MP0004885_abnormal_endolymph0.84395448
126MP0000955_abnormal_spinal_cord0.83979107
127MP0001661_extended_life_span0.83954452
128MP0001963_abnormal_hearing_physiology0.82396379
129MP0005330_cardiomyopathy0.81420438
130MP0001299_abnormal_eye_distance/0.80483316
131MP0010368_abnormal_lymphatic_system0.79517062
132MP0005448_abnormal_energy_balance0.78915928
133MP0003011_delayed_dark_adaptation0.78658074
134MP0005376_homeostasis/metabolism_phenot0.78134514
135MP0005266_abnormal_metabolism0.78118347
136MP0003635_abnormal_synaptic_transmissio0.76741753
137MP0002136_abnormal_kidney_physiology0.73553291
138MP0005058_abnormal_lysosome_morphology0.72728807
139MP0009115_abnormal_fat_cell0.71011906
140MP0004147_increased_porphyrin_level0.70173512
141MP0000230_abnormal_systemic_arterial0.66627947
142MP0002970_abnormal_white_adipose0.65247796
143MP0001765_abnormal_ion_homeostasis0.65034271
144MP0002269_muscular_atrophy0.64330522
145MP0003690_abnormal_glial_cell0.64312216
146MP0003953_abnormal_hormone_level0.64204495
147MP0004215_abnormal_myocardial_fiber0.62043470
148MP0005408_hypopigmentation0.61371532
149MP0003724_increased_susceptibility_to0.60812079
150MP0002928_abnormal_bile_duct0.59647836
151MP0009765_abnormal_xenobiotic_induced0.56483305
152MP0002254_reproductive_system_inflammat0.56003881
153MP0003329_amyloid_beta_deposits0.54647166
154MP0004036_abnormal_muscle_relaxation0.52250863
155MP0001853_heart_inflammation0.50105698
156MP0003959_abnormal_lean_body0.48194972
157MP0006138_congestive_heart_failure0.47459277
158MP0000749_muscle_degeneration0.47014640
159MP0001544_abnormal_cardiovascular_syste0.46927761
160MP0005385_cardiovascular_system_phenoty0.46927761
161MP0003638_abnormal_response/metabolism_0.46596292
162MP0004087_abnormal_muscle_fiber0.45527682
163MP0002822_catalepsy0.44504702
164MP0005452_abnormal_adipose_tissue0.43284690
165MP0009384_cardiac_valve_regurgitation0.40174640
166MP0000003_abnormal_adipose_tissue0.40097376
167MP0008775_abnormal_heart_ventricle0.39727941
168MP0008961_abnormal_basal_metabolism0.39265005
169MP0004782_abnormal_surfactant_physiolog0.39163960
170MP0008872_abnormal_physiological_respon0.39156752
171MP0002972_abnormal_cardiac_muscle0.38911841
172MP0002168_other_aberrant_phenotype0.38619365
173MP0001944_abnormal_pancreas_morphology0.38281223
174MP0002332_abnormal_exercise_endurance0.38129447
175MP0005620_abnormal_muscle_contractility0.37918644

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)5.96059379
2Intrahepatic cholestasis (HP:0001406)5.66500807
3Deep venous thrombosis (HP:0002625)5.31573048
4Xanthomatosis (HP:0000991)5.08769222
5* Hyperglycinuria (HP:0003108)5.06501260
6Abnormality of monocarboxylic acid metabolism (HP:0010996)4.95118298
7Ketosis (HP:0001946)4.95068691
8Hypoglycemic coma (HP:0001325)4.85231338
9* Hyperammonemia (HP:0001987)4.83293237
10* Abnormality of glycine metabolism (HP:0010895)4.67873634
11* Abnormality of serine family amino acid metabolism (HP:0010894)4.67873634
12Prolonged partial thromboplastin time (HP:0003645)4.60859609
13Hypobetalipoproteinemia (HP:0003563)4.50964734
14Hyperlipoproteinemia (HP:0010980)4.43354675
15Abnormality of fatty-acid metabolism (HP:0004359)4.42320287
16Ketoacidosis (HP:0001993)4.38942329
17* Hyperglycinemia (HP:0002154)4.35052420
18Complement deficiency (HP:0004431)4.30239838
19Abnormality of glutamine family amino acid metabolism (HP:0010902)4.07849993
20Dicarboxylic aciduria (HP:0003215)3.91943844
21Abnormality of dicarboxylic acid metabolism (HP:0010995)3.91943844
22Abnormality of aspartate family amino acid metabolism (HP:0010899)3.88759321
23Pancreatic cysts (HP:0001737)3.81439183
24Hypolipoproteinemia (HP:0010981)3.78515324
25Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.77883652
26Abnormality of sulfur amino acid metabolism (HP:0004339)3.68484449
27Hypoalphalipoproteinemia (HP:0003233)3.65395845
28True hermaphroditism (HP:0010459)3.60226606
29Epidermoid cyst (HP:0200040)3.59900388
30Abnormality of methionine metabolism (HP:0010901)3.58016990
31Pancreatic fibrosis (HP:0100732)3.54469375
32Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.53071339
33Nephronophthisis (HP:0000090)3.51582203
34Molar tooth sign on MRI (HP:0002419)3.46325840
35Abnormality of midbrain morphology (HP:0002418)3.46325840
36Joint hemorrhage (HP:0005261)3.43414746
37Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.42182563
38Generalized aminoaciduria (HP:0002909)3.37147855
39Chronic hepatic failure (HP:0100626)3.37054458
40Fat malabsorption (HP:0002630)3.30341441
41Abnormality of the common coagulation pathway (HP:0010990)3.27075228
42* Abnormality of serum amino acid levels (HP:0003112)3.25876188
43Cerebral edema (HP:0002181)3.20890080
44Gout (HP:0001997)3.19785040
45* Metabolic acidosis (HP:0001942)3.18619834
46Abnormality of purine metabolism (HP:0004352)3.14406946
47* Lethargy (HP:0001254)3.12860331
48Delayed CNS myelination (HP:0002188)3.09756286
49Abnormality of the renal medulla (HP:0100957)3.05610686
50Abnormality of the intrinsic pathway (HP:0010989)3.03922763
51Abnormality of complement system (HP:0005339)3.00959382
52Myoglobinuria (HP:0002913)3.00818591
53Abnormality of nucleobase metabolism (HP:0010932)2.98712666
54Conjugated hyperbilirubinemia (HP:0002908)2.98602563
55Abnormal biliary tract physiology (HP:0012439)2.93748719
56Bile duct proliferation (HP:0001408)2.93748719
57Hypercholesterolemia (HP:0003124)2.92965766
58Proximal tubulopathy (HP:0000114)2.90935954
59Medial flaring of the eyebrow (HP:0010747)2.90809239
60Tubular atrophy (HP:0000092)2.89926993
61Hyperbilirubinemia (HP:0002904)2.88342302
62Hyperventilation (HP:0002883)2.75920496
63Abnormality of the renal cortex (HP:0011035)2.75541471
64Hypoglycemic seizures (HP:0002173)2.72354887
65Renal cortical cysts (HP:0000803)2.72149994
66Hepatic necrosis (HP:0002605)2.69952471
67Gait imbalance (HP:0002141)2.67420973
68Abnormality of pyrimidine metabolism (HP:0004353)2.67324106
69* Vomiting (HP:0002013)2.63848393
70Congenital primary aphakia (HP:0007707)2.61002000
71Skin nodule (HP:0200036)2.60275634
72Occipital encephalocele (HP:0002085)2.58854632
73Cystic liver disease (HP:0006706)2.55056049
74Hydroxyprolinuria (HP:0003080)2.51778137
75Abnormality of proline metabolism (HP:0010907)2.51778137
76Steatorrhea (HP:0002570)2.50587545
77Genital tract atresia (HP:0001827)2.49391042
78Myocardial infarction (HP:0001658)2.49142289
79Increased muscle lipid content (HP:0009058)2.49000900
80Nausea (HP:0002018)2.48395043
81Anophthalmia (HP:0000528)2.48388755
82Abnormal respiratory motile cilium physiology (HP:0012261)2.47876466
83Vaginal atresia (HP:0000148)2.46456919
84Increased purine levels (HP:0004368)2.46215128
85Hyperuricemia (HP:0002149)2.46215128
86Nephrogenic diabetes insipidus (HP:0009806)2.45030033
87Intestinal atresia (HP:0011100)2.43170233
88Abnormal ciliary motility (HP:0012262)2.42046971
89Glycosuria (HP:0003076)2.40660334
90Abnormality of urine glucose concentration (HP:0011016)2.40660334
91Methylmalonic aciduria (HP:0012120)2.40432249
92Genetic anticipation (HP:0003743)2.39828390
93Hyperinsulinemic hypoglycemia (HP:0000825)2.39692600
94Hepatocellular carcinoma (HP:0001402)2.37872344
95Vascular calcification (HP:0004934)2.36156868
96Colon cancer (HP:0003003)2.35711317
97Rhabdomyolysis (HP:0003201)2.34819824
98Postaxial foot polydactyly (HP:0001830)2.34758070
99Aplasia/Hypoplasia of the tibia (HP:0005772)2.33579069
100Late onset (HP:0003584)2.31134444
101* Pancreatitis (HP:0001733)2.30705540
102Aplasia/Hypoplasia of the tongue (HP:0010295)2.28910170
103Abolished electroretinogram (ERG) (HP:0000550)2.28459183
104Systemic lupus erythematosus (HP:0002725)2.26741310
105Anencephaly (HP:0002323)2.22027783
106Sensorimotor neuropathy (HP:0007141)2.21064502
107Pendular nystagmus (HP:0012043)2.20967240
108Bifid tongue (HP:0010297)2.20347259
109Abnormality of the labia minora (HP:0012880)2.19355424
110Sclerocornea (HP:0000647)2.15227859
111Postaxial hand polydactyly (HP:0001162)2.14612899
112Progressive cerebellar ataxia (HP:0002073)2.13840711
113Abnormal drinking behavior (HP:0030082)2.12209939
114Polydipsia (HP:0001959)2.12209939
115* Acute encephalopathy (HP:0006846)2.11645919
116Irritability (HP:0000737)2.11400354
117Rhinitis (HP:0012384)2.09939926
118Congenital hepatic fibrosis (HP:0002612)2.09772566
119Alkalosis (HP:0001948)2.09256866
120Cardiovascular calcification (HP:0011915)2.08621167
121Abnormal gallbladder morphology (HP:0012437)2.08126215
122Cholelithiasis (HP:0001081)2.07426783
123Malnutrition (HP:0004395)2.07373527
124Neonatal onset (HP:0003623)2.06652676
125Acute hepatic failure (HP:0006554)2.06611496
126Chronic bronchitis (HP:0004469)2.03970595
127Enlarged kidneys (HP:0000105)2.03642783
128Male pseudohermaphroditism (HP:0000037)2.03003961
129Poor coordination (HP:0002370)2.01600312
130Spontaneous abortion (HP:0005268)2.01584372
131Septo-optic dysplasia (HP:0100842)2.01026013
132Oligodactyly (hands) (HP:0001180)2.00546061
133Optic nerve hypoplasia (HP:0000609)2.00207093
134Preaxial hand polydactyly (HP:0001177)1.99142776
135Congenital stationary night blindness (HP:0007642)1.98955069
136Brushfield spots (HP:0001088)1.96789597
137Spastic diplegia (HP:0001264)1.96403149
138Hypertriglyceridemia (HP:0002155)1.95891146
139* Lactic acidosis (HP:0003128)1.95141647
140Methylmalonic acidemia (HP:0002912)1.95056751
141Symptomatic seizures (HP:0011145)1.93941785
142Supernumerary spleens (HP:0009799)1.93490727
143Elevated hepatic transaminases (HP:0002910)1.92916122
144Short tibia (HP:0005736)1.92383501
145Hyperglycemia (HP:0003074)1.92382848
146Abnormality of vitamin metabolism (HP:0100508)1.92169155
147Rib fusion (HP:0000902)1.90295665
148Gaze-evoked nystagmus (HP:0000640)1.90109747
149Labial hypoplasia (HP:0000066)1.90000536
150Opisthotonus (HP:0002179)1.89325040
151Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.88081014
152Ragged-red muscle fibers (HP:0003200)1.86859789
153Thyroid-stimulating hormone excess (HP:0002925)1.86293570
154Mitral stenosis (HP:0001718)1.86018674
155Abnormal cartilage morphology (HP:0002763)1.85969669
156Hepatocellular necrosis (HP:0001404)1.84774238
157Renal hypoplasia (HP:0000089)1.84496000
158Dandy-Walker malformation (HP:0001305)1.83928889
159Broad-based gait (HP:0002136)1.83434418
160Preaxial foot polydactyly (HP:0001841)1.83403744
161Polyuria (HP:0000103)1.81116647
162Abnormal respiratory epithelium morphology (HP:0012253)1.80351992
163Abnormal respiratory motile cilium morphology (HP:0005938)1.80351992
164Increased intramyocellular lipid droplets (HP:0012240)1.79995646
165Esophageal varix (HP:0002040)1.79630567
166Tubulointerstitial nephritis (HP:0001970)1.79548287
167Narrow forehead (HP:0000341)1.78745952
168Lissencephaly (HP:0001339)1.75903158
169Decreased circulating renin level (HP:0003351)1.75230053
170Cutaneous finger syndactyly (HP:0010554)1.74977143
171Cerebellar dysplasia (HP:0007033)1.74923069
172Attenuation of retinal blood vessels (HP:0007843)1.72716193
173Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.72298766
174Abnormality of alanine metabolism (HP:0010916)1.72298766
175Hyperalaninemia (HP:0003348)1.72298766
176Abnormality of macular pigmentation (HP:0008002)1.70916521
177Absent/shortened dynein arms (HP:0200106)1.69860180
178Dynein arm defect of respiratory motile cilia (HP:0012255)1.69860180
179Retinitis pigmentosa (HP:0000510)1.64197086
180Tubulointerstitial abnormality (HP:0001969)1.63196393
181Broad foot (HP:0001769)1.63006537
182Hypoplastic female external genitalia (HP:0012815)1.62859139
183Type II lissencephaly (HP:0007260)1.61976340
184Abnormal urine output (HP:0012590)1.60419889
185Inability to walk (HP:0002540)1.59238193
186Gastrointestinal atresia (HP:0002589)1.57825795
187Hepatoblastoma (HP:0002884)1.56972937

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK8.14697101
2SIK13.93953385
3ERN13.41396335
4INSRR3.10488467
5PDK42.96820416
6PDK32.96820416
7CASK2.88442396
8FGFR42.72447943
9TRIB32.62616672
10BMPR1B2.55301341
11ZAK2.54768629
12TAOK32.38234447
13ACVR1B2.35249537
14PKN22.33143341
15MAP3K42.23763803
16TNIK2.03694856
17LMTK22.03393106
18MARK11.99033261
19FLT31.97471757
20WNK41.93097049
21GRK11.90533944
22MKNK21.90198523
23STK161.89431738
24NUAK11.88391943
25MAP4K21.80661565
26PDK21.80537178
27NEK91.78273245
28CAMK1D1.70985477
29EPHA41.62115525
30PINK11.59076964
31BCR1.55272334
32MAPK111.53230389
33FRK1.50194326
34ADRBK21.48302828
35PRKAA21.47582518
36MAPK131.46092387
37MKNK11.41537704
38DYRK21.38709178
39MAP2K41.38502022
40PIK3CG1.34790639
41AKT31.32687586
42IRAK31.32656756
43ERBB41.31207956
44PNCK1.29902805
45MST1R1.25262521
46CAMK1G1.23637409
47TRIM281.23523736
48MAP2K71.19128224
49WNK31.18969688
50PTK61.17419233
51STK38L1.15790065
52LATS11.08463686
53PIK3CA1.06876150
54TIE11.04630312
55TTN1.04622802
56DAPK21.02986607
57MYLK1.01815364
58JAK11.01515320
59TYK21.01305885
60PRKAA11.01288227
61TLK11.00113573
62CSNK1G10.98677034
63JAK20.98085534
64PRKCG0.96610491
65STK30.95946237
66TGFBR10.94824010
67BRSK20.94284285
68CDK190.93353353
69MAP3K70.92055490
70ABL20.91959354
71OBSCN0.91136901
72CSNK1G20.86862671
73FER0.85487162
74OXSR10.83551153
75PHKG20.82515902
76PHKG10.82515902
77PRKCE0.82391953
78TBK10.81189217
79MAPK120.80714051
80SGK30.80190382
81SGK20.79528432
82MUSK0.77529346
83DYRK30.76704889
84PRKACG0.76112828
85WEE10.75593449
86MAP2K30.75384593
87PLK20.74542545
88NTRK20.74064856
89PDPK10.72526291
90NEK10.72508363
91KDR0.71327235
92CSNK1A1L0.70969009
93TGFBR20.70700830
94CSNK1G30.70595122
95MAPK150.69696136
96ERBB30.67612451
97CAMK10.67218881
98PLK40.67187961
99SRPK10.65952533
100EPHA30.61390182
101PKN10.60569260
102STK380.60150569
103NLK0.59792814
104PDK10.58174018
105MINK10.57982330
106TYRO30.57566294
107RIPK10.57122624
108SGK2230.56850686
109SGK4940.56850686
110MAPK40.56317153
111NEK20.55670093
112EPHB20.55112257
113CDK60.55030105
114CAMK2A0.54947336
115CAMK2G0.54444788
116PRKCZ0.51762413
117DYRK1A0.51224887
118FGFR30.51150759
119ADRBK10.50571009
120STK390.48265767
121PLK30.48049796
122MAP2K60.46717904
123PLK10.45868098
124CSNK1A10.45601089
125FGFR10.44803290
126IKBKE0.44493061
127CSNK1E0.42983470
128GSK3A0.42633414
129PDGFRA0.41642542
130MAP3K140.41600913
131RPS6KA50.41202587
132RPS6KA40.40802203
133EPHB10.40768129
134NTRK30.39840623
135NME10.39794384
136CSNK1D0.39209837
137VRK10.39081101
138PAK30.39077369
139PRKD10.39017064
140MAP2K10.38646356
141FGFR20.38328379
142IGF1R0.37755024
143GRK60.36721885
144CAMK40.35267047
145ERBB20.34867954
146MAPK70.33684445
147PRKACA0.31974446
148IRAK10.31785970
149PRKCH0.30357989
150CSF1R0.29627403
151MAP3K50.29390679
152PRKCQ0.27299947
153DYRK1B0.26692142
154TAOK20.26678617
155PRKCA0.23923989
156RPS6KB10.22653523
157EIF2AK10.22392214
158RET0.21519600
159MET0.21518414
160CDK40.21177955
161PRKACB0.19217839
162PRKG20.19185929
163MAP3K60.19178648

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.74334065
2* Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.15763479
3Fatty acid degradation_Homo sapiens_hsa000713.09996968
4* Propanoate metabolism_Homo sapiens_hsa006403.03466834
5Nitrogen metabolism_Homo sapiens_hsa009102.98949832
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.98083236
7Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.93987903
8* Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.83949482
9Tryptophan metabolism_Homo sapiens_hsa003802.65484187
10Arginine biosynthesis_Homo sapiens_hsa002202.57679191
11Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.50656460
12Butanoate metabolism_Homo sapiens_hsa006502.40596163
13Fatty acid metabolism_Homo sapiens_hsa012122.40004424
142-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.35899276
15Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.24478105
16Peroxisome_Homo sapiens_hsa041462.21530386
17Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.19942615
18PPAR signaling pathway_Homo sapiens_hsa033202.16021071
19Pentose and glucuronate interconversions_Homo sapiens_hsa000402.08921972
20Complement and coagulation cascades_Homo sapiens_hsa046102.05613189
21Pyruvate metabolism_Homo sapiens_hsa006201.95816419
22beta-Alanine metabolism_Homo sapiens_hsa004101.89096440
23Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.76458683
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.73561816
25* Carbon metabolism_Homo sapiens_hsa012001.66569265
26Chemical carcinogenesis_Homo sapiens_hsa052041.55214911
27Selenocompound metabolism_Homo sapiens_hsa004501.54638134
28Nicotine addiction_Homo sapiens_hsa050331.54045343
29Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.52961575
30Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.52846507
31Fatty acid elongation_Homo sapiens_hsa000621.52734692
32Histidine metabolism_Homo sapiens_hsa003401.51376450
33Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.47668063
34Caffeine metabolism_Homo sapiens_hsa002321.45722892
35Steroid hormone biosynthesis_Homo sapiens_hsa001401.44647881
36Sulfur metabolism_Homo sapiens_hsa009201.44604522
37Starch and sucrose metabolism_Homo sapiens_hsa005001.39863870
38Phenylalanine metabolism_Homo sapiens_hsa003601.36960731
39Drug metabolism - other enzymes_Homo sapiens_hsa009831.36942335
40Bile secretion_Homo sapiens_hsa049761.33283296
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.31993082
42Phototransduction_Homo sapiens_hsa047441.29061549
43Biosynthesis of amino acids_Homo sapiens_hsa012301.28461179
44Retinol metabolism_Homo sapiens_hsa008301.27965592
45Staphylococcus aureus infection_Homo sapiens_hsa051501.26299864
46Fat digestion and absorption_Homo sapiens_hsa049751.22512566
47Cysteine and methionine metabolism_Homo sapiens_hsa002701.22036464
48Tyrosine metabolism_Homo sapiens_hsa003501.19608279
49Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.18977577
50Folate biosynthesis_Homo sapiens_hsa007901.11553089
51ABC transporters_Homo sapiens_hsa020101.09545523
52Glycerolipid metabolism_Homo sapiens_hsa005611.04582713
53Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.00039394
54Maturity onset diabetes of the young_Homo sapiens_hsa049500.99779997
55Arginine and proline metabolism_Homo sapiens_hsa003300.99096699
56Protein export_Homo sapiens_hsa030600.97774403
57Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.97700651
58Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.94887722
59Fanconi anemia pathway_Homo sapiens_hsa034600.94257689
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.93980908
61Fatty acid biosynthesis_Homo sapiens_hsa000610.93561244
62Cyanoamino acid metabolism_Homo sapiens_hsa004600.92712706
63Lysine degradation_Homo sapiens_hsa003100.91690510
64Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.86954709
65Basal transcription factors_Homo sapiens_hsa030220.86273729
66Vitamin digestion and absorption_Homo sapiens_hsa049770.84425334
67Sulfur relay system_Homo sapiens_hsa041220.83589670
68Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.83433170
69Taste transduction_Homo sapiens_hsa047420.81915851
70Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.81066205
71Ether lipid metabolism_Homo sapiens_hsa005650.80129031
72Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.79380526
73Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73049363
74Basal cell carcinoma_Homo sapiens_hsa052170.73004150
75Vitamin B6 metabolism_Homo sapiens_hsa007500.70121582
76Steroid biosynthesis_Homo sapiens_hsa001000.69627525
77Glutathione metabolism_Homo sapiens_hsa004800.63878339
78GABAergic synapse_Homo sapiens_hsa047270.63703585
79RNA polymerase_Homo sapiens_hsa030200.61587943
80Pentose phosphate pathway_Homo sapiens_hsa000300.61399288
81Morphine addiction_Homo sapiens_hsa050320.56196598
82RNA degradation_Homo sapiens_hsa030180.55474415
83* Metabolic pathways_Homo sapiens_hsa011000.55308643
84Serotonergic synapse_Homo sapiens_hsa047260.52610495
85Hedgehog signaling pathway_Homo sapiens_hsa043400.50794739
86Olfactory transduction_Homo sapiens_hsa047400.50501387
87One carbon pool by folate_Homo sapiens_hsa006700.50445136
88Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.49665336
89Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.49265122
90Glutamatergic synapse_Homo sapiens_hsa047240.49067670
91Homologous recombination_Homo sapiens_hsa034400.47977552
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.47226263
93Fructose and mannose metabolism_Homo sapiens_hsa000510.47163715
94Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.46297959
95Galactose metabolism_Homo sapiens_hsa000520.44727835
96Adipocytokine signaling pathway_Homo sapiens_hsa049200.44340087
97Non-homologous end-joining_Homo sapiens_hsa034500.43076185
98Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.42949646
99Circadian entrainment_Homo sapiens_hsa047130.41757188
100Insulin secretion_Homo sapiens_hsa049110.40454546
101Insulin resistance_Homo sapiens_hsa049310.40229281
102Hippo signaling pathway_Homo sapiens_hsa043900.40095896
103Axon guidance_Homo sapiens_hsa043600.38598004
104Oxidative phosphorylation_Homo sapiens_hsa001900.33449474
105Glucagon signaling pathway_Homo sapiens_hsa049220.33069746
106alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.26238695
107AMPK signaling pathway_Homo sapiens_hsa041520.24401620
108Parkinsons disease_Homo sapiens_hsa050120.24085739
109Glycerophospholipid metabolism_Homo sapiens_hsa005640.16055923
110Alzheimers disease_Homo sapiens_hsa050100.15276842
111Linoleic acid metabolism_Homo sapiens_hsa005910.12417182
112Prion diseases_Homo sapiens_hsa050200.09496889
113Insulin signaling pathway_Homo sapiens_hsa049100.09039197
114Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.1314955
115Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1182821
116Lysosome_Homo sapiens_hsa04142-0.1107929
117Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1018610
118Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0930555
119Terpenoid backbone biosynthesis_Homo sapiens_hsa00900-0.0853476
120Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0751364
121Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0746614
122Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0706931
123Pancreatic secretion_Homo sapiens_hsa04972-0.0692955
124Huntingtons disease_Homo sapiens_hsa05016-0.0579275
125Cardiac muscle contraction_Homo sapiens_hsa04260-0.0553567
126Renin-angiotensin system_Homo sapiens_hsa04614-0.0520682
127Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0481086
128Other glycan degradation_Homo sapiens_hsa00511-0.0323424
129Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923-0.0063246
130Protein digestion and absorption_Homo sapiens_hsa04974-0.0045971

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