HSD17B7

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: HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)6.50403066
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.50403066
3L-phenylalanine metabolic process (GO:0006558)5.91619531
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.91619531
5fatty acid elongation (GO:0030497)5.86691978
6* cholesterol biosynthetic process (GO:0006695)5.70871002
7aromatic amino acid family catabolic process (GO:0009074)5.53867601
8alpha-linolenic acid metabolic process (GO:0036109)5.10384150
9bile acid biosynthetic process (GO:0006699)5.08072098
10* sterol biosynthetic process (GO:0016126)4.97198450
11glyoxylate metabolic process (GO:0046487)4.96599839
12triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.84658369
13indole-containing compound catabolic process (GO:0042436)4.65596301
14indolalkylamine catabolic process (GO:0046218)4.65596301
15tryptophan catabolic process (GO:0006569)4.65596301
16peptidyl-glutamic acid carboxylation (GO:0017187)4.60551183
17protein carboxylation (GO:0018214)4.60551183
18negative regulation of fibrinolysis (GO:0051918)4.50599969
19kynurenine metabolic process (GO:0070189)4.47646175
20tryptophan metabolic process (GO:0006568)4.42986655
21water-soluble vitamin biosynthetic process (GO:0042364)4.39360252
22high-density lipoprotein particle remodeling (GO:0034375)4.36903919
23cysteine metabolic process (GO:0006534)4.29220419
24regulation of fibrinolysis (GO:0051917)4.28871916
25bile acid metabolic process (GO:0008206)4.27614923
26coenzyme catabolic process (GO:0009109)4.26474129
27very long-chain fatty acid metabolic process (GO:0000038)4.22169916
28long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)4.18436516
29tyrosine metabolic process (GO:0006570)4.17583005
30fatty-acyl-CoA biosynthetic process (GO:0046949)4.13575686
31regulation of protein activation cascade (GO:2000257)4.05706643
32urea metabolic process (GO:0019627)4.05550252
33urea cycle (GO:0000050)4.05550252
34sulfur amino acid catabolic process (GO:0000098)4.05508610
35plasma lipoprotein particle clearance (GO:0034381)4.00489220
36cellular ketone body metabolic process (GO:0046950)3.98987570
37complement activation, alternative pathway (GO:0006957)3.97307657
38aromatic amino acid family metabolic process (GO:0009072)3.96460067
39cellular glucuronidation (GO:0052695)3.93901047
40acetyl-CoA metabolic process (GO:0006084)3.82297986
41aldehyde catabolic process (GO:0046185)3.79949760
42reverse cholesterol transport (GO:0043691)3.79838530
43regulation of complement activation (GO:0030449)3.76311770
44regulation of triglyceride catabolic process (GO:0010896)3.75709846
45cofactor catabolic process (GO:0051187)3.73205949
46establishment of protein localization to mitochondrial membrane (GO:0090151)3.72763904
47alkaloid metabolic process (GO:0009820)3.72505374
48plasma lipoprotein particle remodeling (GO:0034369)3.72163004
49protein-lipid complex remodeling (GO:0034368)3.72163004
50macromolecular complex remodeling (GO:0034367)3.72163004
51very-low-density lipoprotein particle assembly (GO:0034379)3.71742769
52cholesterol efflux (GO:0033344)3.71487734
53nitrogen cycle metabolic process (GO:0071941)3.70616828
54protein complex biogenesis (GO:0070271)3.69255348
55fatty-acyl-CoA metabolic process (GO:0035337)3.67947637
56fibrinolysis (GO:0042730)3.65473039
57glucuronate metabolic process (GO:0019585)3.64735845
58uronic acid metabolic process (GO:0006063)3.64735845
59isoprenoid biosynthetic process (GO:0008299)3.63690826
60homocysteine metabolic process (GO:0050667)3.63270544
61ethanol oxidation (GO:0006069)3.61650688
62acylglycerol homeostasis (GO:0055090)3.60996621
63triglyceride homeostasis (GO:0070328)3.60996621
64epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.60883903
65central nervous system myelination (GO:0022010)3.59738216
66axon ensheathment in central nervous system (GO:0032291)3.59738216
67mitochondrial respiratory chain complex I assembly (GO:0032981)3.59640231
68NADH dehydrogenase complex assembly (GO:0010257)3.59640231
69mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.59640231
70long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.59523668
71ubiquinone metabolic process (GO:0006743)3.59004692
72regulation of cholesterol esterification (GO:0010872)3.57208332
73mitochondrial respiratory chain complex assembly (GO:0033108)3.55626581
74cellular biogenic amine catabolic process (GO:0042402)3.54649779
75amine catabolic process (GO:0009310)3.54649779
76cornea development in camera-type eye (GO:0061303)3.52767124
77acyl-CoA biosynthetic process (GO:0071616)3.52215624
78thioester biosynthetic process (GO:0035384)3.52215624
79positive regulation of lipid catabolic process (GO:0050996)3.51985716
80fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.51743133
81response to methylmercury (GO:0051597)3.51090018
82* cholesterol metabolic process (GO:0008203)3.49057350
83ketone body metabolic process (GO:1902224)3.47585273
84nonmotile primary cilium assembly (GO:0035058)3.47168687
85indolalkylamine metabolic process (GO:0006586)3.47011736
86negative regulation of cholesterol transport (GO:0032375)3.44691060
87negative regulation of sterol transport (GO:0032372)3.44691060
88acyl-CoA metabolic process (GO:0006637)3.42877243
89thioester metabolic process (GO:0035383)3.42877243
90alpha-amino acid catabolic process (GO:1901606)3.42200139
91* steroid biosynthetic process (GO:0006694)3.42054790
92bile acid and bile salt transport (GO:0015721)3.38550438
93benzene-containing compound metabolic process (GO:0042537)3.38132427
94positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.36690920
95DNA double-strand break processing (GO:0000729)3.32934332
96heme transport (GO:0015886)3.32258815
97serine family amino acid catabolic process (GO:0009071)3.32058765
98phospholipid efflux (GO:0033700)3.31069519
99regulation of cholesterol biosynthetic process (GO:0045540)3.31003823
100opsonization (GO:0008228)3.28844774
101cholesterol homeostasis (GO:0042632)3.28175443
102DNA deamination (GO:0045006)3.27457318
103* sterol metabolic process (GO:0016125)3.27451886
104response to phenylpropanoid (GO:0080184)3.27324672
105epoxygenase P450 pathway (GO:0019373)3.27299591
106regulation of cholesterol metabolic process (GO:0090181)3.25056398
107pyrimidine nucleobase catabolic process (GO:0006208)3.25030778
108glutamate metabolic process (GO:0006536)3.24280167
109sterol homeostasis (GO:0055092)3.23728294
110plasma lipoprotein particle assembly (GO:0034377)3.16699752
111respiratory chain complex IV assembly (GO:0008535)3.16571692
112amino-acid betaine metabolic process (GO:0006577)3.16130230
113cellular amino acid catabolic process (GO:0009063)3.15693924
114positive regulation of lipoprotein lipase activity (GO:0051006)3.13000366
115chromatin remodeling at centromere (GO:0031055)3.12251610
116replication fork processing (GO:0031297)3.11404055
117nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.09892355
118regulation of hexokinase activity (GO:1903299)3.09467424
119regulation of glucokinase activity (GO:0033131)3.09467424
120ubiquinone biosynthetic process (GO:0006744)3.08551039
121exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.03520219
122fucose catabolic process (GO:0019317)3.03434837
123L-fucose metabolic process (GO:0042354)3.03434837
124L-fucose catabolic process (GO:0042355)3.03434837
125proteasome assembly (GO:0043248)2.97501882
126detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.96131490
127neural tube formation (GO:0001841)2.95662845
128axoneme assembly (GO:0035082)2.94169526
129regulation of timing of cell differentiation (GO:0048505)2.93487492
130negative regulation of translation, ncRNA-mediated (GO:0040033)2.92126225
131regulation of translation, ncRNA-mediated (GO:0045974)2.92126225
132negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.92126225
133epithelial cilium movement (GO:0003351)2.91342828
134behavioral response to nicotine (GO:0035095)2.89331601
135dopamine transport (GO:0015872)2.88397335
136mannosylation (GO:0097502)2.87891787
137cytochrome complex assembly (GO:0017004)2.86525909
138negative regulation of DNA-dependent DNA replication (GO:2000104)2.84343764
139CENP-A containing nucleosome assembly (GO:0034080)2.82995825
140negative regulation of telomere maintenance (GO:0032205)2.79641490
141protein-cofactor linkage (GO:0018065)2.78392223
142intraciliary transport (GO:0042073)2.78234731
143mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.78175002
144cilium morphogenesis (GO:0060271)2.77716340
145tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.76676337
146RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.76676337
147somatic hypermutation of immunoglobulin genes (GO:0016446)2.76659513
148somatic diversification of immune receptors via somatic mutation (GO:0002566)2.76659513
149kinetochore organization (GO:0051383)2.76433373
150recombinational repair (GO:0000725)2.75928941
151hindbrain development (GO:0030902)2.75628137
152regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.75319432
153regulation of mitotic spindle checkpoint (GO:1903504)2.75319432
154mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.74642384
155protein polyglutamylation (GO:0018095)2.73753540
156preassembly of GPI anchor in ER membrane (GO:0016254)2.73733940
157double-strand break repair via homologous recombination (GO:0000724)2.73512514
158protein K6-linked ubiquitination (GO:0085020)2.72892664
159photoreceptor cell development (GO:0042461)2.71927154
160regulation of development, heterochronic (GO:0040034)2.69544612
161kinetochore assembly (GO:0051382)2.68281610
162dorsal/ventral axis specification (GO:0009950)2.67401386
163platelet dense granule organization (GO:0060155)2.67004225
164limb bud formation (GO:0060174)2.66685631
165chaperone-mediated protein transport (GO:0072321)2.65858717
166regulation of telomere maintenance (GO:0032204)2.64054825
167sulfation (GO:0051923)2.63943897
168somite development (GO:0061053)2.63658453
169negative regulation of transcription regulatory region DNA binding (GO:2000678)2.61834138
170response to pheromone (GO:0019236)2.60695218
171kidney morphogenesis (GO:0060993)2.59585239
172peptidyl-histidine modification (GO:0018202)2.58459771
173transcription elongation from RNA polymerase III promoter (GO:0006385)2.58424040
174termination of RNA polymerase III transcription (GO:0006386)2.58424040
175photoreceptor cell maintenance (GO:0045494)2.57848324
176synapsis (GO:0007129)2.56895843
177somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.55381948
178isotype switching (GO:0045190)2.55381948
179somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.55381948
180regulation of cilium movement (GO:0003352)2.54122424
181energy coupled proton transport, down electrochemical gradient (GO:0015985)2.53753518
182ATP synthesis coupled proton transport (GO:0015986)2.53753518
183cullin deneddylation (GO:0010388)2.52355089
184histone mRNA metabolic process (GO:0008334)2.51339759
185cilium organization (GO:0044782)2.50772505
186quinone biosynthetic process (GO:1901663)2.49320499
187otic vesicle formation (GO:0030916)2.48732705

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse7.31029858
2RXR_22158963_ChIP-Seq_LIVER_Mouse5.18159447
3EGR1_23403033_ChIP-Seq_LIVER_Mouse4.34955530
4LXR_22158963_ChIP-Seq_LIVER_Mouse4.33431433
5* PPARA_22158963_ChIP-Seq_LIVER_Mouse4.08057382
6ZNF274_21170338_ChIP-Seq_K562_Hela3.37668215
7FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.30524466
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.28154885
9GABP_17652178_ChIP-ChIP_JURKAT_Human3.03048045
10MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.85504817
11EST1_17652178_ChIP-ChIP_JURKAT_Human2.82999442
12HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.80201506
13NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.75591770
14GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.73196840
15* CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.72570885
16SALL1_21062744_ChIP-ChIP_HESCs_Human2.65295723
17PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.43671541
18IGF1R_20145208_ChIP-Seq_DFB_Human2.39213000
19ELK1_19687146_ChIP-ChIP_HELA_Human2.28271662
20EWS_26573619_Chip-Seq_HEK293_Human2.24458861
21FUS_26573619_Chip-Seq_HEK293_Human2.22269624
22CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.08038094
23FLI1_27457419_Chip-Seq_LIVER_Mouse2.06925782
24TRIM28_21343339_ChIP-Seq_HEK293_Human2.04136377
25E2F4_17652178_ChIP-ChIP_JURKAT_Human1.93058424
26* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.91021560
27* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.91021560
28* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.90773179
29TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.88234506
30TAF15_26573619_Chip-Seq_HEK293_Human1.85286625
31AR_21572438_ChIP-Seq_LNCaP_Human1.84261432
32HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.82907993
33MYC_18940864_ChIP-ChIP_HL60_Human1.82797984
34SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.81278640
35VDR_23849224_ChIP-Seq_CD4+_Human1.81096629
36POU5F1_16153702_ChIP-ChIP_HESCs_Human1.80426675
37* CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.74353815
38GBX2_23144817_ChIP-Seq_PC3_Human1.68822169
39ETS1_20019798_ChIP-Seq_JURKAT_Human1.62451061
40PCGF2_27294783_Chip-Seq_ESCs_Mouse1.58873813
41HTT_18923047_ChIP-ChIP_STHdh_Human1.57440441
42JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.57309367
43NOTCH1_21737748_ChIP-Seq_TLL_Human1.54123246
44CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.52811207
45CLOCK_20551151_ChIP-Seq_293T_Human1.52767019
46NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.48310237
47* CREB1_15753290_ChIP-ChIP_HEK293T_Human1.47835742
48IRF1_19129219_ChIP-ChIP_H3396_Human1.47778535
49CDX2_19796622_ChIP-Seq_MESCs_Mouse1.45004498
50* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.44460304
51PADI4_21655091_ChIP-ChIP_MCF-7_Human1.43978633
52EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.41614286
53PIAS1_25552417_ChIP-Seq_VCAP_Human1.41591944
54OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.41062695
55FOXA2_19822575_ChIP-Seq_HepG2_Human1.37657275
56AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.36810808
57FOXP3_21729870_ChIP-Seq_TREG_Human1.36213050
58TP63_17297297_ChIP-ChIP_HaCaT_Human1.33305585
59ZNF217_24962896_ChIP-Seq_MCF-7_Human1.33182616
60WT1_19549856_ChIP-ChIP_CCG9911_Human1.33091171
61TP53_22573176_ChIP-Seq_HFKS_Human1.31397175
62PCGF2_27294783_Chip-Seq_NPCs_Mouse1.31032295
63FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.30652334
64FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.29675263
65SRF_21415370_ChIP-Seq_HL-1_Mouse1.29632655
66* CBP_20019798_ChIP-Seq_JUKART_Human1.28278100
67* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.28278100
68PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.26579809
69BCAT_22108803_ChIP-Seq_LS180_Human1.26434205
70ZFP57_27257070_Chip-Seq_ESCs_Mouse1.26423001
71TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.25737713
72* SUZ12_27294783_Chip-Seq_NPCs_Mouse1.21235906
73KLF5_20875108_ChIP-Seq_MESCs_Mouse1.19425158
74ESR1_20079471_ChIP-ChIP_T-47D_Human1.18772068
75* SOX2_19829295_ChIP-Seq_ESCs_Human1.18270134
76* NANOG_19829295_ChIP-Seq_ESCs_Human1.18270134
77* NFE2_27457419_Chip-Seq_LIVER_Mouse1.18020123
78ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.17518741
79P300_19829295_ChIP-Seq_ESCs_Human1.16390274
80GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.14426128
81POU3F2_20337985_ChIP-ChIP_501MEL_Human1.14256064
82TP53_18474530_ChIP-ChIP_U2OS_Human1.14225979
83ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.14047962
84TCF4_22108803_ChIP-Seq_LS180_Human1.14012784
85EZH2_22144423_ChIP-Seq_EOC_Human1.12813781
86* AR_25329375_ChIP-Seq_VCAP_Human1.11621606
87Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.11566677
88PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.10760314
89SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.10209639
90CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.10008274
91FOXA1_27270436_Chip-Seq_PROSTATE_Human1.09560860
92FOXA1_25329375_ChIP-Seq_VCAP_Human1.09560860
93* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.09279208
94SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.08956724
95SOX2_16153702_ChIP-ChIP_HESCs_Human1.08941229
96CJUN_26792858_Chip-Seq_BT549_Human1.08054994
97BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.07757635
98SOX2_20726797_ChIP-Seq_SW620_Human1.06988544
99CTBP2_25329375_ChIP-Seq_LNCAP_Human1.06789925
100YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.06314608
101ESR2_21235772_ChIP-Seq_MCF-7_Human1.05431625
102ER_23166858_ChIP-Seq_MCF-7_Human1.05091928
103EED_16625203_ChIP-ChIP_MESCs_Mouse1.05086953
104SMAD3_21741376_ChIP-Seq_EPCs_Human1.05072585
105TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04818098
106POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.04818098
107TCF4_23295773_ChIP-Seq_U87_Human1.04176331
108RNF2_27304074_Chip-Seq_NSC_Mouse1.04100871
109FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.02819632
110RUNX2_22187159_ChIP-Seq_PCA_Human1.02644959
111TP53_16413492_ChIP-PET_HCT116_Human1.02377665
112SALL4_18804426_ChIP-ChIP_XEN_Mouse1.01847386
113CBX2_27304074_Chip-Seq_ESCs_Mouse1.01033467
114AR_20517297_ChIP-Seq_VCAP_Human1.00693341
115EP300_21415370_ChIP-Seq_HL-1_Mouse1.00452840
116* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00155187
117FOXA1_21572438_ChIP-Seq_LNCaP_Human0.98775910
118NANOG_16153702_ChIP-ChIP_HESCs_Human0.98729421
119* CRX_20693478_ChIP-Seq_RETINA_Mouse0.97629585
120ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.97282701
121SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.96789110
122NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.96127618
123* P53_22387025_ChIP-Seq_ESCs_Mouse0.95704661
124RBPJ_22232070_ChIP-Seq_NCS_Mouse0.95650307
125SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.95511539
126CTBP1_25329375_ChIP-Seq_LNCAP_Human0.95373061
127UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.95352141
128* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.95298477
129SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.94937882
130SMAD_19615063_ChIP-ChIP_OVARY_Human0.94779699
131FOXO3_23340844_ChIP-Seq_DLD1_Human0.94426230
132HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.93991047
133PPAR_26484153_Chip-Seq_NCI-H1993_Human0.93572683
134SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.92213925
135MTF2_20144788_ChIP-Seq_MESCs_Mouse0.91559087
136TP63_23658742_ChIP-Seq_EP156T_Human0.89832383
137RXR_22108803_ChIP-Seq_LS180_Human0.88430935
138HNF4A_19822575_ChIP-Seq_HepG2_Human0.88129155
139AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.87439690
140STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.87206855
141FOXM1_26456572_ChIP-Seq_MCF-7_Human0.87106325
142TOP2B_26459242_ChIP-Seq_MCF-7_Human0.87006306
143SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.86941252
144GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86668384
145SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.86575008
146RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.86329829
147* EZH2_27294783_Chip-Seq_NPCs_Mouse0.85820710
148AUTS2_25519132_ChIP-Seq_293T-REX_Human0.85476042
149EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.85381618
150EZH2_18974828_ChIP-Seq_MESCs_Mouse0.85139822
151RNF2_18974828_ChIP-Seq_MESCs_Mouse0.85139822
152VDR_22108803_ChIP-Seq_LS180_Human0.84316426
153E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.83072464
154TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.82571890
155MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.81917507
156* SOX2_27498859_Chip-Seq_STOMACH_Mouse0.81486850
157* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.81184563
158FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.80770430
159NR3C1_23031785_ChIP-Seq_PC12_Mouse0.80519650
160NR3C1_21868756_ChIP-Seq_MCF10A_Human0.80447627
161SMAD4_21799915_ChIP-Seq_A2780_Human0.80038307
162SMAD4_21741376_ChIP-Seq_EPCs_Human0.80004924
163STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.79645212
164* CMYC_18555785_Chip-Seq_ESCs_Mouse0.78557004
165* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.78326033
166RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.78072761
167STAT3_23295773_ChIP-Seq_U87_Human0.77345126
168* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.76537486
169* NANOG_18555785_Chip-Seq_ESCs_Mouse0.76344322

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.58961859
2MP0005360_urolithiasis6.48123740
3MP0005085_abnormal_gallbladder_physiolo5.46631388
4MP0005365_abnormal_bile_salt4.72170837
5MP0008875_abnormal_xenobiotic_pharmacok4.41693221
6MP0003806_abnormal_nucleotide_metabolis4.23210444
7MP0006292_abnormal_olfactory_placode3.70783377
8MP0003195_calcinosis3.01062340
9MP0003252_abnormal_bile_duct2.99045948
10MP0008877_abnormal_DNA_methylation2.90161372
11MP0002938_white_spotting2.82460305
12MP0005083_abnormal_biliary_tract2.81433385
13MP0009840_abnormal_foam_cell2.76901042
14MP0002638_abnormal_pupillary_reflex2.73530885
15MP0003787_abnormal_imprinting2.73407315
16MP0010329_abnormal_lipoprotein_level2.70485301
17MP0008058_abnormal_DNA_repair2.55240325
18MP0002102_abnormal_ear_morphology2.24268592
19MP0005332_abnormal_amino_acid2.20782369
20MP0005451_abnormal_body_composition2.18656317
21MP0003880_abnormal_central_pattern2.18364150
22MP0000920_abnormal_myelination2.15585946
23MP0003121_genomic_imprinting2.13652726
24MP0005551_abnormal_eye_electrophysiolog2.10107968
25MP0008789_abnormal_olfactory_epithelium2.09805748
26MP0001666_abnormal_nutrient_absorption2.07931155
27MP0005084_abnormal_gallbladder_morpholo2.02750013
28MP0003890_abnormal_embryonic-extraembry2.01957351
29MP0006072_abnormal_retinal_apoptosis1.98318076
30MP0003122_maternal_imprinting1.95239560
31* MP0002118_abnormal_lipid_homeostasis1.89549700
32MP0005394_taste/olfaction_phenotype1.88935815
33MP0005499_abnormal_olfactory_system1.88935815
34MP0008057_abnormal_DNA_replication1.83063383
35MP0000372_irregular_coat_pigmentation1.79348585
36MP0003690_abnormal_glial_cell1.78126677
37MP0003329_amyloid_beta_deposits1.73762206
38MP0009697_abnormal_copulation1.69744201
39MP0005253_abnormal_eye_physiology1.68050418
40MP0001984_abnormal_olfaction1.66758229
41MP0010094_abnormal_chromosome_stability1.64558496
42MP0009046_muscle_twitch1.62695380
43MP0004019_abnormal_vitamin_homeostasis1.62609404
44MP0000569_abnormal_digit_pigmentation1.62310509
45MP0003868_abnormal_feces_composition1.61515668
46MP0008438_abnormal_cutaneous_collagen1.61489867
47MP0002653_abnormal_ependyma_morphology1.55197998
48MP0000609_abnormal_liver_physiology1.52676967
49MP0002736_abnormal_nociception_after1.51424148
50MP0000604_amyloidosis1.51336702
51MP0005645_abnormal_hypothalamus_physiol1.48252748
52MP0004133_heterotaxia1.47169944
53MP0003011_delayed_dark_adaptation1.43397700
54MP0008872_abnormal_physiological_respon1.42150559
55MP0000631_abnormal_neuroendocrine_gland1.41149045
56MP0005408_hypopigmentation1.39750621
57MP0003950_abnormal_plasma_membrane1.33177123
58MP0003693_abnormal_embryo_hatching1.32969154
59MP0001293_anophthalmia1.31879453
60MP0005584_abnormal_enzyme/coenzyme_acti1.31613749
61MP0001968_abnormal_touch/_nociception1.29824652
62MP0009384_cardiac_valve_regurgitation1.25149539
63MP0003656_abnormal_erythrocyte_physiolo1.25091674
64MP0001485_abnormal_pinna_reflex1.23780669
65MP0003567_abnormal_fetal_cardiomyocyte1.23296496
66MP0002751_abnormal_autonomic_nervous1.22738735
67MP0003186_abnormal_redox_activity1.18189443
68MP0003191_abnormal_cellular_cholesterol1.18022953
69MP0000579_abnormal_nail_morphology1.17342754
70MP0001661_extended_life_span1.16920879
71MP0001324_abnormal_eye_pigmentation1.14638752
72MP0002796_impaired_skin_barrier1.14526478
73MP0002928_abnormal_bile_duct1.13960546
74MP0005646_abnormal_pituitary_gland1.09572838
75MP0000647_abnormal_sebaceous_gland1.09380357
76MP0005319_abnormal_enzyme/_coenzyme1.09230957
77MP0002557_abnormal_social/conspecific_i1.09026397
78MP0005647_abnormal_sex_gland1.09025385
79MP0004134_abnormal_chest_morphology1.08065441
80MP0008995_early_reproductive_senescence1.07152030
81MP0002837_dystrophic_cardiac_calcinosis1.06811713
82MP0002295_abnormal_pulmonary_circulatio1.05844574
83MP0005195_abnormal_posterior_eye1.05656262
84MP0009745_abnormal_behavioral_response1.02310296
85MP0004147_increased_porphyrin_level1.02127938
86MP0005275_abnormal_skin_tensile1.00956357
87MP0001486_abnormal_startle_reflex1.00445305
88MP0006035_abnormal_mitochondrial_morpho0.99316712
89MP0003705_abnormal_hypodermis_morpholog0.98593764
90MP0003786_premature_aging0.97262538
91MP0004381_abnormal_hair_follicle0.96378275
92MP0002138_abnormal_hepatobiliary_system0.95798784
93MP0002160_abnormal_reproductive_system0.95258992
94MP0002234_abnormal_pharynx_morphology0.95214340
95MP0003119_abnormal_digestive_system0.95173964
96MP0001986_abnormal_taste_sensitivity0.94694881
97MP0010678_abnormal_skin_adnexa0.94520530
98MP0001529_abnormal_vocalization0.92320895
99MP0009764_decreased_sensitivity_to0.92010928
100MP0002272_abnormal_nervous_system0.91622551
101MP0001286_abnormal_eye_development0.91400360
102MP0005391_vision/eye_phenotype0.91341382
103MP0001929_abnormal_gametogenesis0.90414310
104MP0002752_abnormal_somatic_nervous0.88178249
105MP0003632_abnormal_nervous_system0.87522152
106MP0002572_abnormal_emotion/affect_behav0.86058741
107MP0005248_abnormal_Harderian_gland0.85938708
108MP0001243_abnormal_dermal_layer0.84850111
109MP0002210_abnormal_sex_determination0.84395034
110MP0000566_synostosis0.82442830
111MP0001177_atelectasis0.82376385
112MP0002184_abnormal_innervation0.82137925
113MP0002163_abnormal_gland_morphology0.81457514
114MP0004957_abnormal_blastocyst_morpholog0.81219711
115MP0005389_reproductive_system_phenotype0.80408295
116MP0002282_abnormal_trachea_morphology0.79824812
117MP0005386_behavior/neurological_phenoty0.79742666
118MP0004924_abnormal_behavior0.79742666
119MP0009765_abnormal_xenobiotic_induced0.78915348
120MP0000653_abnormal_sex_gland0.78763020
121MP0002735_abnormal_chemical_nociception0.78603863
122MP0002909_abnormal_adrenal_gland0.78569968
123MP0001764_abnormal_homeostasis0.76805350
124MP0003698_abnormal_male_reproductive0.76630387
125MP0008932_abnormal_embryonic_tissue0.76213373
126MP0002233_abnormal_nose_morphology0.75659000
127MP0004885_abnormal_endolymph0.75484055
128MP0001299_abnormal_eye_distance/0.74233688
129MP0005410_abnormal_fertilization0.73770623
130MP0003634_abnormal_glial_cell0.73033764
131MP0005075_abnormal_melanosome_morpholog0.72832027
132MP0009643_abnormal_urine_homeostasis0.72008499
133MP0005379_endocrine/exocrine_gland_phen0.71127257
134MP0005395_other_phenotype0.70245380
135MP0003453_abnormal_keratinocyte_physiol0.70109680
136MP0009763_increased_sensitivity_to0.69804031
137MP0000427_abnormal_hair_cycle0.69296260
138MP0004270_analgesia0.69270876
139MP0001905_abnormal_dopamine_level0.69236702
140MP0002090_abnormal_vision0.68723557
141MP0002254_reproductive_system_inflammat0.68565626
142MP0000462_abnormal_digestive_system0.68469011
143MP0000598_abnormal_liver_morphology0.68374145
144MP0004742_abnormal_vestibular_system0.68172431
145MP0000383_abnormal_hair_follicle0.68028029
146MP0000639_abnormal_adrenal_gland0.67722004
147MP0000778_abnormal_nervous_system0.66016956
148MP0003136_yellow_coat_color0.65655445
149MP0005164_abnormal_response_to0.65525391
150MP0001542_abnormal_bone_strength0.64587380
151MP0001340_abnormal_eyelid_morphology0.64282372
152MP0001346_abnormal_lacrimal_gland0.64014610
153MP0002060_abnormal_skin_morphology0.63858409
154MP0004142_abnormal_muscle_tone0.63011464
155MP0009250_abnormal_appendicular_skeleto0.62544802
156MP0009053_abnormal_anal_canal0.62493267
157MP0002168_other_aberrant_phenotype0.61338476
158MP0003718_maternal_effect0.59586828
159MP0000762_abnormal_tongue_morphology0.58752626
160MP0005535_abnormal_body_temperature0.55713536
161MP0004272_abnormal_basement_membrane0.55145021
162MP0005503_abnormal_tendon_morphology0.54400913
163MP0005376_homeostasis/metabolism_phenot0.52868042
164MP0003631_nervous_system_phenotype0.52187361
165MP0004185_abnormal_adipocyte_glucose0.48499263
166MP0004883_abnormal_blood_vessel0.47521159
167MP0000377_abnormal_hair_follicle0.47170122
168MP0009642_abnormal_blood_homeostasis0.47059356
169MP0005636_abnormal_mineral_homeostasis0.45780419
170MP0002933_joint_inflammation0.45078226
171MP0006276_abnormal_autonomic_nervous0.44713086
172MP0000163_abnormal_cartilage_morphology0.43931308
173MP0003937_abnormal_limbs/digits/tail_de0.43426394
174MP0001440_abnormal_grooming_behavior0.43030180
175MP0002971_abnormal_brown_adipose0.42967208

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)6.52986123
2Deep venous thrombosis (HP:0002625)6.23765335
3Xanthomatosis (HP:0000991)5.74606031
4Abnormality of aromatic amino acid family metabolism (HP:0004338)5.66085626
5Hypobetalipoproteinemia (HP:0003563)5.15920873
6Prolonged partial thromboplastin time (HP:0003645)5.08685663
7Hyperlipoproteinemia (HP:0010980)4.81368412
8Abnormality of monocarboxylic acid metabolism (HP:0010996)4.68302300
9Epidermoid cyst (HP:0200040)4.67605463
10Parakeratosis (HP:0001036)4.34870588
11Hypolipoproteinemia (HP:0010981)3.83663203
12Pancreatic cysts (HP:0001737)3.73325584
13Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.69297270
14Pancreatic fibrosis (HP:0100732)3.69093511
15Neurofibrillary tangles (HP:0002185)3.67879798
16Abnormality of methionine metabolism (HP:0010901)3.65103337
17Complement deficiency (HP:0004431)3.62527052
18True hermaphroditism (HP:0010459)3.58066880
19Abnormality of aspartate family amino acid metabolism (HP:0010899)3.45568096
20Fat malabsorption (HP:0002630)3.44591013
21Abnormality of midbrain morphology (HP:0002418)3.40385990
22Molar tooth sign on MRI (HP:0002419)3.40385990
23Hypoalphalipoproteinemia (HP:0003233)3.29563076
24Abnormality of the common coagulation pathway (HP:0010990)3.28276202
25Abnormality of glutamine family amino acid metabolism (HP:0010902)3.27265616
26Joint hemorrhage (HP:0005261)3.24881691
27Abnormality of sulfur amino acid metabolism (HP:0004339)3.24376039
28Abnormality of the labia minora (HP:0012880)3.20410474
29Hyperammonemia (HP:0001987)3.18492074
30Medial flaring of the eyebrow (HP:0010747)3.16788533
31Acute necrotizing encephalopathy (HP:0006965)3.16109374
32Hyperglycinemia (HP:0002154)3.13862644
33Abnormality of glycolysis (HP:0004366)3.04288732
34Increased serum pyruvate (HP:0003542)3.04288732
35Nephronophthisis (HP:0000090)3.03491008
36Degeneration of the lateral corticospinal tracts (HP:0002314)3.03100953
37Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.03100953
38Conjugated hyperbilirubinemia (HP:0002908)3.02400243
39Abnormality of serine family amino acid metabolism (HP:0010894)2.99250505
40Abnormality of glycine metabolism (HP:0010895)2.99250505
41Acute encephalopathy (HP:0006846)2.98633493
42Cerebral inclusion bodies (HP:0100314)2.87310763
43Ketosis (HP:0001946)2.84414155
44Abnormality of the corticospinal tract (HP:0002492)2.78123513
45Steatorrhea (HP:0002570)2.76885860
46Progressive macrocephaly (HP:0004481)2.74018946
47Colon cancer (HP:0003003)2.69304684
48Congenital primary aphakia (HP:0007707)2.68786740
49Gait imbalance (HP:0002141)2.68092620
50Mitochondrial inheritance (HP:0001427)2.66019909
51Skin nodule (HP:0200036)2.65795273
52Abnormal mitochondria in muscle tissue (HP:0008316)2.64893260
53Hypercholesterolemia (HP:0003124)2.61678667
54Increased CSF lactate (HP:0002490)2.59029826
55Hypophosphatemic rickets (HP:0004912)2.58904933
56Abnormality of the renal medulla (HP:0100957)2.57175550
57Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.55266505
58Nephrogenic diabetes insipidus (HP:0009806)2.51567258
59Vascular calcification (HP:0004934)2.51071837
60Abnormality of complement system (HP:0005339)2.50771497
61Acanthocytosis (HP:0001927)2.49682611
62Abnormality of fatty-acid metabolism (HP:0004359)2.48360525
63Delayed CNS myelination (HP:0002188)2.47703205
64Coronal craniosynostosis (HP:0004440)2.46094964
65Hypoplasia of the fovea (HP:0007750)2.45063448
66Aplasia/Hypoplasia of the fovea (HP:0008060)2.45063448
67Sensory axonal neuropathy (HP:0003390)2.44940299
68Epiphyseal dysplasia (HP:0002656)2.44371241
69Intestinal atresia (HP:0011100)2.43470976
70Congenital stationary night blindness (HP:0007642)2.43403589
71Abnormal tarsal ossification (HP:0008369)2.41708687
72Myocardial infarction (HP:0001658)2.40386408
73Cardiovascular calcification (HP:0011915)2.38922785
74Genital tract atresia (HP:0001827)2.35404551
75Abnormality of the intrinsic pathway (HP:0010989)2.35304558
76Peritonitis (HP:0002586)2.33728164
77Vitreoretinal degeneration (HP:0000655)2.33408875
78Hypothermia (HP:0002045)2.33318015
79Protuberant abdomen (HP:0001538)2.31894120
80Vaginal atresia (HP:0000148)2.31187949
81Optic nerve hypoplasia (HP:0000609)2.31163459
82Hyperbilirubinemia (HP:0002904)2.30345436
83Abnormality of the renal cortex (HP:0011035)2.28902615
84Insidious onset (HP:0003587)2.26896442
85Termporal pattern (HP:0011008)2.26896442
86Large for gestational age (HP:0001520)2.26398371
87Hepatocellular necrosis (HP:0001404)2.26393887
88Hyperglycinuria (HP:0003108)2.25411829
89Abnormality of pyrimidine metabolism (HP:0004353)2.25059253
90Spontaneous abortion (HP:0005268)2.24711365
91Abnormal rod and cone electroretinograms (HP:0008323)2.23640113
92Congenital ichthyosiform erythroderma (HP:0007431)2.22760343
93Increased hepatocellular lipid droplets (HP:0006565)2.21267252
94Rickets (HP:0002748)2.20352017
95Abnormality of the fovea (HP:0000493)2.20325420
96Supernumerary spleens (HP:0009799)2.20313806
97Hepatic necrosis (HP:0002605)2.19898041
98Hypoglycemic coma (HP:0001325)2.19105808
99Abnormality of serum amino acid levels (HP:0003112)2.16448926
100Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.15480433
101Abnormal gallbladder morphology (HP:0012437)2.15100660
102Sclerocornea (HP:0000647)2.14352306
103Amyloidosis (HP:0011034)2.13638646
104Abnormal biliary tract physiology (HP:0012439)2.12853965
105Bile duct proliferation (HP:0001408)2.12853965
106Lipid accumulation in hepatocytes (HP:0006561)2.11709218
107Cystic liver disease (HP:0006706)2.11496638
108Mitral stenosis (HP:0001718)2.11429163
109Hepatocellular carcinoma (HP:0001402)2.11420466
110Lissencephaly (HP:0001339)2.10835966
111Pendular nystagmus (HP:0012043)2.10313325
112Attenuation of retinal blood vessels (HP:0007843)2.08298783
113Spastic paraparesis (HP:0002313)2.06428822
114Methylmalonic acidemia (HP:0002912)2.06203142
115Abnormal gallbladder physiology (HP:0012438)2.05688563
116Cholecystitis (HP:0001082)2.05688563
117Aplasia/Hypoplasia of the tongue (HP:0010295)2.05076584
118Type II lissencephaly (HP:0007260)2.04819647
119Abolished electroretinogram (ERG) (HP:0000550)2.04430841
120Turricephaly (HP:0000262)2.03611549
121Chronic hepatic failure (HP:0100626)2.03530503
122Cupped ribs (HP:0000887)2.02885307
123Hypochromic microcytic anemia (HP:0004840)2.01908769
124Oligodactyly (hands) (HP:0001180)2.01201674
125Anencephaly (HP:0002323)1.99727182
126Infantile muscular hypotonia (HP:0008947)1.99710841
127Meckel diverticulum (HP:0002245)1.98456795
128Abnormality of the ileum (HP:0001549)1.97717150
129Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.96931877
130Enlarged kidneys (HP:0000105)1.96268625
131Irritability (HP:0000737)1.95831971
132Male pseudohermaphroditism (HP:0000037)1.95603285
133Aplasia/Hypoplasia of the tibia (HP:0005772)1.94573643
134Poor coordination (HP:0002370)1.93953722
135Aplasia/Hypoplasia of the uvula (HP:0010293)1.93771312
136Increased serum lactate (HP:0002151)1.92965379
137Arthropathy (HP:0003040)1.92796343
138Optic disc pallor (HP:0000543)1.92360504
139Abnormal cartilage morphology (HP:0002763)1.91704593
140Autoamputation (HP:0001218)1.91479156
141Renal cortical cysts (HP:0000803)1.90815517
142Abnormality of the pons (HP:0007361)1.90556312
143Abnormality of nucleobase metabolism (HP:0010932)1.90354612
144Cerebral edema (HP:0002181)1.90302479
145Postaxial foot polydactyly (HP:0001830)1.90175813
146Cerebral hemorrhage (HP:0001342)1.88776296
147Methylmalonic aciduria (HP:0012120)1.87972862
148Ketoacidosis (HP:0001993)1.86937660
149Lethargy (HP:0001254)1.86266450
150Hyperinsulinemic hypoglycemia (HP:0000825)1.85450956
1513-Methylglutaconic aciduria (HP:0003535)1.85335720
152Abnormality of the gallbladder (HP:0005264)1.85222263
153Hypoplastic pelvis (HP:0008839)1.84660138
154Dandy-Walker malformation (HP:0001305)1.84082003
155Postaxial hand polydactyly (HP:0001162)1.81520650
156Premature rupture of membranes (HP:0001788)1.80499496
157Opisthotonus (HP:0002179)1.79898746
158Hypoplasia of the pons (HP:0012110)1.79384101
159Congenital hepatic fibrosis (HP:0002612)1.78138252
160Sloping forehead (HP:0000340)1.77807888
161Septo-optic dysplasia (HP:0100842)1.77716603
162Decreased central vision (HP:0007663)1.75995935
163Respiratory distress (HP:0002098)1.73946783
164Irregular epiphyses (HP:0010582)1.73513837
165Metabolic acidosis (HP:0001942)1.73142737
166Abnormality of purine metabolism (HP:0004352)1.73002291
167Abnormality of chromosome stability (HP:0003220)1.72780302
168Short tibia (HP:0005736)1.72732545
169Hydroxyprolinuria (HP:0003080)1.72677688
170Abnormality of proline metabolism (HP:0010907)1.72677688
171Aplasia/Hypoplasia of the spleen (HP:0010451)1.72652635
172Diastasis recti (HP:0001540)1.71484395
173Morphological abnormality of the pyramidal tract (HP:0002062)1.71422958
174Limb dystonia (HP:0002451)1.71402902
175Hyperventilation (HP:0002883)1.71390573
176Scrotal hypoplasia (HP:0000046)1.70656065
177Tubular atrophy (HP:0000092)1.70336619
178Cholelithiasis (HP:0001081)1.69256727
179Anophthalmia (HP:0000528)1.68501044
180Relative macrocephaly (HP:0004482)1.68467754
181Delayed epiphyseal ossification (HP:0002663)1.68095183
182Volvulus (HP:0002580)1.68077851
183Limb hypertonia (HP:0002509)1.68060810
184Decreased testicular size (HP:0008734)1.67970151
185Leukodystrophy (HP:0002415)1.67443398
186Preaxial hand polydactyly (HP:0001177)1.66722252
187Specific learning disability (HP:0001328)1.66061438
188Abnormal lung lobation (HP:0002101)1.66048463
189Gastrointestinal atresia (HP:0002589)1.65893232
190Pancreatic islet-cell hyperplasia (HP:0004510)1.65488061
191Hyperalaninemia (HP:0003348)1.65136367

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK394.24023773
2EPHB14.13373066
3PBK3.11856550
4ERBB43.08600608
5WNK32.89388729
6SIK12.72166116
7OXSR12.63718130
8FGFR22.62403710
9TSSK62.61295295
10MET2.40625194
11BCR2.38684366
12ZAK2.38363025
13TRIM282.30634111
14PKN12.27626925
15MKNK22.22091533
16LATS12.04590916
17LIMK12.00789826
18WEE11.97722009
19FGFR41.92428190
20PNCK1.84965241
21ACVR1B1.82993645
22ADRBK21.80256981
23MST1R1.79206977
24GRK11.77428353
25CASK1.77411383
26EPHA31.76550657
27VRK11.74471735
28VRK21.74282663
29DDR21.70023345
30EIF2AK31.66065729
31MKNK11.64648936
32PLK31.64070741
33MAP4K21.61005747
34MAPKAPK51.56883686
35WNK41.55444614
36SRPK11.55377908
37BCKDK1.50153699
38ABL21.49619812
39MAP3K41.48697601
40BRSK21.46669763
41PAK31.46612854
42CDC71.45546624
43DYRK21.44786506
44MARK11.41270092
45BUB11.40812104
46NTRK11.37518663
47PLK41.35483185
48EPHB21.35257668
49CSNK1G31.33584043
50CSNK1G11.30499556
51CSNK1A1L1.29908915
52FRK1.28904609
53NME11.26578729
54TYRO31.26179045
55PINK11.25184327
56TAOK31.20922505
57IRAK11.16176530
58STK161.15355895
59MST41.15162498
60MAP2K41.10458518
61CSNK1G21.09317698
62MAP2K71.07008231
63FGR1.06952015
64ERBB31.04115591
65TLK11.02917527
66MAP3K141.01502188
67SGK4941.00124389
68SGK2231.00124389
69TNIK0.99822369
70BMPR1B0.99521829
71GSK3A0.98859289
72PRKCQ0.95513127
73EPHA40.93130902
74ERN10.92908662
75TRPM70.91409827
76PIK3CA0.90298026
77PLK10.90000514
78PIK3CG0.85802125
79ROCK20.83374324
80NEK90.81357724
81MAPK130.80772914
82ERBB20.79039094
83EIF2AK10.78229320
84NEK10.77983964
85CCNB10.77233510
86PDK20.77222363
87PLK20.77130764
88PRKCE0.75243014
89LATS20.72709424
90INSRR0.71597497
91CAMK2A0.71229949
92PAK60.70711052
93CAMK2G0.69623577
94NUAK10.69578716
95NLK0.69326681
96NEK60.69225509
97CAMK2B0.68322960
98TGFBR10.66208003
99PRKCZ0.65893999
100TAF10.64765658
101STK38L0.64701937
102PTK20.64067373
103PDGFRB0.63783436
104RET0.63665642
105IRAK20.62984637
106WNK10.62353444
107TESK20.61683195
108ATR0.61293224
109MAP3K20.59531874
110UHMK10.58581912
111STK30.57876414
112CDK30.57626517
113MELK0.57324615
114MAPK120.57160464
115TTK0.56912632
116PTK2B0.56504515
117FGFR10.55692314
118CSK0.55447758
119PRPF4B0.54281432
120FER0.53431532
121CAMK2D0.53154466
122BMX0.53042329
123MAPK40.52620503
124ROCK10.52556987
125MAP3K120.52086776
126ATM0.51768441
127ICK0.50677716
128CSNK1A10.50439733
129BRSK10.49818789
130PASK0.49800028
131MAP3K30.49534967
132FLT30.48708602
133PDPK10.48659335
134DYRK30.48080993
135ADRBK10.48002023
136PAK20.47026515
137CDK140.46751284
138MAPK150.46748355
139INSR0.46524031
140EIF2AK20.46184326
141MAP2K10.45134619
142FYN0.45057384
143KSR20.43877805
144RPS6KA50.43673282
145NTRK30.43013073
146PRKACG0.42074259
147CHEK20.41829093
148CSNK2A10.41770595
149NTRK20.41578768
150AKT30.40907036
151PRKG10.40324120
152CSNK2A20.39898137
153CSNK1E0.39405334
154IGF1R0.39294000
155ABL10.39280823
156PRKCG0.38537265
157KSR10.38056354
158MINK10.37549477
159TEC0.37540028
160TNK20.37157635
161CSNK1D0.36276434
162AURKB0.35934492
163NEK20.34687162
164PRKACA0.29855443
165TIE10.29683444

Predicted pathways (KEGG)

RankGene SetZ-score
1* Steroid biosynthesis_Homo sapiens_hsa001003.89143220
2Primary bile acid biosynthesis_Homo sapiens_hsa001203.82247763
3Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.48272578
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.33575978
5Protein export_Homo sapiens_hsa030603.09365039
6Terpenoid backbone biosynthesis_Homo sapiens_hsa009003.07269563
7Nitrogen metabolism_Homo sapiens_hsa009103.02611484
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.74289168
9Fatty acid elongation_Homo sapiens_hsa000622.64570077
10Butanoate metabolism_Homo sapiens_hsa006502.54674079
11Proteasome_Homo sapiens_hsa030502.33560639
12Tryptophan metabolism_Homo sapiens_hsa003802.32936359
13Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.31666171
14RNA polymerase_Homo sapiens_hsa030202.30345037
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.26411733
16Arginine biosynthesis_Homo sapiens_hsa002202.25007561
17Fatty acid degradation_Homo sapiens_hsa000712.24742746
18Complement and coagulation cascades_Homo sapiens_hsa046102.24482938
19Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.24334616
20Histidine metabolism_Homo sapiens_hsa003402.15856846
21Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.14573059
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.12250258
23Fatty acid metabolism_Homo sapiens_hsa012122.07186096
24Homologous recombination_Homo sapiens_hsa034402.02973756
25Peroxisome_Homo sapiens_hsa041461.99388421
26Parkinsons disease_Homo sapiens_hsa050121.98642994
27Sulfur metabolism_Homo sapiens_hsa009201.96569285
28Basal transcription factors_Homo sapiens_hsa030221.96206536
29* Steroid hormone biosynthesis_Homo sapiens_hsa001401.95148215
30Fanconi anemia pathway_Homo sapiens_hsa034601.89686169
31Chemical carcinogenesis_Homo sapiens_hsa052041.89261034
32Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.85977852
33Non-homologous end-joining_Homo sapiens_hsa034501.84674377
34Pentose and glucuronate interconversions_Homo sapiens_hsa000401.78852945
35Phototransduction_Homo sapiens_hsa047441.76091060
36Propanoate metabolism_Homo sapiens_hsa006401.71587319
37Mismatch repair_Homo sapiens_hsa034301.67617499
38Retinol metabolism_Homo sapiens_hsa008301.66574405
39PPAR signaling pathway_Homo sapiens_hsa033201.65482868
40Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.58517091
41RNA degradation_Homo sapiens_hsa030181.54552785
42Tyrosine metabolism_Homo sapiens_hsa003501.51683421
43Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.51375953
44Phenylalanine metabolism_Homo sapiens_hsa003601.50527361
45beta-Alanine metabolism_Homo sapiens_hsa004101.48419863
46Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.41499086
47Staphylococcus aureus infection_Homo sapiens_hsa051501.41193194
48Caffeine metabolism_Homo sapiens_hsa002321.38647775
49Huntingtons disease_Homo sapiens_hsa050161.38365798
50Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.35436198
51Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.33252393
52Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.26357920
53Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.24385650
54Bile secretion_Homo sapiens_hsa049761.20877868
55DNA replication_Homo sapiens_hsa030301.17571437
56Pyruvate metabolism_Homo sapiens_hsa006201.17058407
57Drug metabolism - other enzymes_Homo sapiens_hsa009831.13768042
58RNA transport_Homo sapiens_hsa030131.12882016
59Spliceosome_Homo sapiens_hsa030401.12515598
60Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.11591057
61Nicotine addiction_Homo sapiens_hsa050331.01990080
62Ribosome_Homo sapiens_hsa030101.01410615
63Arginine and proline metabolism_Homo sapiens_hsa003301.01138479
64Fatty acid biosynthesis_Homo sapiens_hsa000610.99944182
65Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.99768723
66Nucleotide excision repair_Homo sapiens_hsa034200.97760807
67Fat digestion and absorption_Homo sapiens_hsa049750.96028035
68Base excision repair_Homo sapiens_hsa034100.93796387
69Pyrimidine metabolism_Homo sapiens_hsa002400.93774272
70Selenocompound metabolism_Homo sapiens_hsa004500.87780649
71Purine metabolism_Homo sapiens_hsa002300.86309178
72Vitamin digestion and absorption_Homo sapiens_hsa049770.85989042
73Starch and sucrose metabolism_Homo sapiens_hsa005000.85883240
74Ether lipid metabolism_Homo sapiens_hsa005650.82766753
75Folate biosynthesis_Homo sapiens_hsa007900.82359576
76Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.79952748
77Vitamin B6 metabolism_Homo sapiens_hsa007500.79223224
78Glutathione metabolism_Homo sapiens_hsa004800.77101972
79Cysteine and methionine metabolism_Homo sapiens_hsa002700.75797572
80ABC transporters_Homo sapiens_hsa020100.75312170
812-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.69756433
82Sulfur relay system_Homo sapiens_hsa041220.67827350
83alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.64408881
84Carbon metabolism_Homo sapiens_hsa012000.61733413
85Cardiac muscle contraction_Homo sapiens_hsa042600.60392213
86Prion diseases_Homo sapiens_hsa050200.58039680
87Linoleic acid metabolism_Homo sapiens_hsa005910.58010234
88Biosynthesis of amino acids_Homo sapiens_hsa012300.57416109
89Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.54323041
90Taste transduction_Homo sapiens_hsa047420.53819995
91Lysine degradation_Homo sapiens_hsa003100.51203351
92Collecting duct acid secretion_Homo sapiens_hsa049660.47990252
93Regulation of autophagy_Homo sapiens_hsa041400.47684631
94* Ovarian steroidogenesis_Homo sapiens_hsa049130.47237227
95* Metabolic pathways_Homo sapiens_hsa011000.45822244
96Glycerolipid metabolism_Homo sapiens_hsa005610.43691470
97Cell cycle_Homo sapiens_hsa041100.40265353
98Olfactory transduction_Homo sapiens_hsa047400.39998327
99Serotonergic synapse_Homo sapiens_hsa047260.35253590
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.35153613
101Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.35100162
102Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.34798566
103Sphingolipid metabolism_Homo sapiens_hsa006000.34649176
104Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.33003823
105p53 signaling pathway_Homo sapiens_hsa041150.31271919
106Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.30957667
107GABAergic synapse_Homo sapiens_hsa047270.30874640
108Asthma_Homo sapiens_hsa053100.30035311
109Maturity onset diabetes of the young_Homo sapiens_hsa049500.28035607
110Axon guidance_Homo sapiens_hsa043600.27578574
111Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.26060736
112ECM-receptor interaction_Homo sapiens_hsa045120.20581741
113Malaria_Homo sapiens_hsa051440.19458984
114Cyanoamino acid metabolism_Homo sapiens_hsa004600.19197169
115Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.16640858
116Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.14833891
117Adipocytokine signaling pathway_Homo sapiens_hsa049200.14087551
118Glycerophospholipid metabolism_Homo sapiens_hsa005640.13751643
119Graft-versus-host disease_Homo sapiens_hsa053320.11644841
120Phagosome_Homo sapiens_hsa041450.11142175
121Oxidative phosphorylation_Homo sapiens_hsa001900.10937616
122Pentose phosphate pathway_Homo sapiens_hsa000300.10885553
123African trypanosomiasis_Homo sapiens_hsa051430.10848018
124Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.07855291
125Arachidonic acid metabolism_Homo sapiens_hsa005900.06194317
126Rheumatoid arthritis_Homo sapiens_hsa053230.01103771
127Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120-0.1045392
128Pertussis_Homo sapiens_hsa05133-0.0988408
129Hepatitis C_Homo sapiens_hsa05160-0.0976224
130Dorso-ventral axis formation_Homo sapiens_hsa04320-0.0897710
131Sphingolipid signaling pathway_Homo sapiens_hsa04071-0.0888331
132AMPK signaling pathway_Homo sapiens_hsa04152-0.0848549
133Renal cell carcinoma_Homo sapiens_hsa05211-0.0810430
134One carbon pool by folate_Homo sapiens_hsa00670-0.0676016
135Alzheimers disease_Homo sapiens_hsa05010-0.0475007
136Amoebiasis_Homo sapiens_hsa05146-0.0288488
137Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514-0.0224347
138Insulin resistance_Homo sapiens_hsa04931-0.0105780
139Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532-0.0040627
140Mineral absorption_Homo sapiens_hsa04978-0.0003014

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