SRD5A1

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: Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)7.72227544
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.72227544
3L-phenylalanine metabolic process (GO:0006558)7.19811241
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.19811241
5aromatic amino acid family catabolic process (GO:0009074)6.43253703
6fatty acid elongation (GO:0030497)6.25262237
7bile acid biosynthetic process (GO:0006699)5.64677990
8glyoxylate metabolic process (GO:0046487)5.43936877
9indole-containing compound catabolic process (GO:0042436)5.29323796
10indolalkylamine catabolic process (GO:0046218)5.29323796
11tryptophan catabolic process (GO:0006569)5.29323796
12kynurenine metabolic process (GO:0070189)5.09338643
13alpha-linolenic acid metabolic process (GO:0036109)5.03377968
14triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.98654832
15tryptophan metabolic process (GO:0006568)4.92654489
16protein K11-linked deubiquitination (GO:0035871)4.88667521
17complement activation, alternative pathway (GO:0006957)4.87311339
18regulation of protein activation cascade (GO:2000257)4.82839600
19central nervous system myelination (GO:0022010)4.81188639
20axon ensheathment in central nervous system (GO:0032291)4.81188639
21cysteine metabolic process (GO:0006534)4.77988539
22negative regulation of fibrinolysis (GO:0051918)4.67714484
23bile acid metabolic process (GO:0008206)4.67622039
24peptidyl-glutamic acid carboxylation (GO:0017187)4.65482673
25protein carboxylation (GO:0018214)4.65482673
26regulation of complement activation (GO:0030449)4.59054517
27regulation of fibrinolysis (GO:0051917)4.58322362
28aromatic amino acid family metabolic process (GO:0009072)4.57769534
29coenzyme catabolic process (GO:0009109)4.50693591
30high-density lipoprotein particle remodeling (GO:0034375)4.44700687
31sulfur amino acid catabolic process (GO:0000098)4.44229368
32very long-chain fatty acid metabolic process (GO:0000038)4.40750279
33urea cycle (GO:0000050)4.39800423
34urea metabolic process (GO:0019627)4.39800423
35tyrosine metabolic process (GO:0006570)4.39799573
36heme transport (GO:0015886)4.29746788
37fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.21731923
38regulation of triglyceride catabolic process (GO:0010896)4.18307369
39detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.17712987
40cholesterol biosynthetic process (GO:0006695)4.15893526
41ethanol oxidation (GO:0006069)4.15414738
42nitrogen cycle metabolic process (GO:0071941)4.15410844
43gamma-aminobutyric acid transport (GO:0015812)4.13835090
44regulation of hippo signaling (GO:0035330)4.11020881
45fatty-acyl-CoA biosynthetic process (GO:0046949)4.08772065
46long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)4.06502727
47alpha-amino acid catabolic process (GO:1901606)4.04871535
48serine family amino acid catabolic process (GO:0009071)3.98642644
49cellular ketone body metabolic process (GO:0046950)3.94418017
50signal peptide processing (GO:0006465)3.93449877
51serine family amino acid biosynthetic process (GO:0009070)3.92250377
52aldehyde catabolic process (GO:0046185)3.91968037
53cellular biogenic amine catabolic process (GO:0042402)3.91240323
54amine catabolic process (GO:0009310)3.91240323
55acetyl-CoA metabolic process (GO:0006084)3.88896914
56regulation of cholesterol esterification (GO:0010872)3.88746029
57cofactor catabolic process (GO:0051187)3.87373028
58acylglycerol homeostasis (GO:0055090)3.85321259
59triglyceride homeostasis (GO:0070328)3.85321259
60plasma lipoprotein particle clearance (GO:0034381)3.84774318
61bile acid and bile salt transport (GO:0015721)3.81841400
62indole-containing compound metabolic process (GO:0042430)3.81011538
63serine family amino acid metabolic process (GO:0009069)3.80682799
64glutamate metabolic process (GO:0006536)3.80150087
65homocysteine metabolic process (GO:0050667)3.79661021
66indolalkylamine metabolic process (GO:0006586)3.78130373
67neural tube formation (GO:0001841)3.78083565
68reverse cholesterol transport (GO:0043691)3.77628324
69cellular glucuronidation (GO:0052695)3.77572091
70cellular amino acid catabolic process (GO:0009063)3.76614468
71fatty-acyl-CoA metabolic process (GO:0035337)3.76273344
72reflex (GO:0060004)3.75385424
73plasma lipoprotein particle remodeling (GO:0034369)3.74357178
74protein-lipid complex remodeling (GO:0034368)3.74357178
75macromolecular complex remodeling (GO:0034367)3.74357178
76L-serine metabolic process (GO:0006563)3.72733157
77cilium or flagellum-dependent cell motility (GO:0001539)3.72669800
78opsonization (GO:0008228)3.71272162
79negative regulation of sterol transport (GO:0032372)3.66503697
80negative regulation of cholesterol transport (GO:0032375)3.66503697
81cholesterol efflux (GO:0033344)3.66423002
82amino-acid betaine metabolic process (GO:0006577)3.65835488
83fibrinolysis (GO:0042730)3.64758804
84sterol biosynthetic process (GO:0016126)3.62445565
85short-chain fatty acid metabolic process (GO:0046459)3.62244674
86cytoplasmic mRNA processing body assembly (GO:0033962)3.61006732
87thioester biosynthetic process (GO:0035384)3.60636114
88acyl-CoA biosynthetic process (GO:0071616)3.60636114
89imidazole-containing compound metabolic process (GO:0052803)3.58294961
90thioester metabolic process (GO:0035383)3.58269169
91acyl-CoA metabolic process (GO:0006637)3.58269169
92phospholipid efflux (GO:0033700)3.56755941
93glycine metabolic process (GO:0006544)3.56706987
94behavioral response to nicotine (GO:0035095)3.56602521
95regulation of short-term neuronal synaptic plasticity (GO:0048172)3.56536217
96cytolysis (GO:0019835)3.55618287
97protein K48-linked deubiquitination (GO:0071108)3.54660574
98negative regulation of lipase activity (GO:0060192)3.50609930
99regulation of sarcomere organization (GO:0060297)3.50210726
100benzene-containing compound metabolic process (GO:0042537)3.50197717
101positive regulation of triglyceride lipase activity (GO:0061365)3.48559419
102positive regulation of lipoprotein lipase activity (GO:0051006)3.48559419
103uronic acid metabolic process (GO:0006063)3.47247146
104glucuronate metabolic process (GO:0019585)3.47247146
105long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.46831814
106lysine metabolic process (GO:0006553)3.45846694
107lysine catabolic process (GO:0006554)3.45846694
108ketone body metabolic process (GO:1902224)3.44508323
109cellular modified amino acid catabolic process (GO:0042219)3.44327363
110aspartate family amino acid catabolic process (GO:0009068)3.43811560
111regulation of bile acid biosynthetic process (GO:0070857)3.43390197
112ethanol metabolic process (GO:0006067)3.42838138
113regulation of gene silencing by miRNA (GO:0060964)3.42391544
114regulation of gene silencing by RNA (GO:0060966)3.42391544
115regulation of posttranscriptional gene silencing (GO:0060147)3.42391544
116very-low-density lipoprotein particle assembly (GO:0034379)3.41113830
117cholesterol homeostasis (GO:0042632)3.40142853
118detection of light stimulus involved in sensory perception (GO:0050962)3.35307264
119detection of light stimulus involved in visual perception (GO:0050908)3.35307264
120regulation of establishment of cell polarity (GO:2000114)3.34828961
121flavonoid metabolic process (GO:0009812)3.33443187
122serotonin metabolic process (GO:0042428)3.31772374
123phospholipid translocation (GO:0045332)3.31373882
124lipid translocation (GO:0034204)3.31373882
125righting reflex (GO:0060013)3.27947697
126establishment of protein localization to Golgi (GO:0072600)3.26251829
127negative regulation of cytosolic calcium ion concentration (GO:0051481)3.22712748
128central nervous system neuron axonogenesis (GO:0021955)3.22338603
129photoreceptor cell maintenance (GO:0045494)3.21304862
130oxidative demethylation (GO:0070989)3.17649303
131thyroid hormone metabolic process (GO:0042403)3.17352542
132primary amino compound metabolic process (GO:1901160)3.17265686
133drug catabolic process (GO:0042737)3.15585055
134NAD biosynthetic process (GO:0009435)3.14789051
135positive regulation of developmental pigmentation (GO:0048087)3.14177169
136monoubiquitinated protein deubiquitination (GO:0035520)3.12561179
137regulation of pigment cell differentiation (GO:0050932)3.12362513
138protein K63-linked deubiquitination (GO:0070536)3.09276136
139sulfation (GO:0051923)3.07282737
140central nervous system projection neuron axonogenesis (GO:0021952)3.06201684
141behavioral response to ethanol (GO:0048149)2.99284980
142detection of mechanical stimulus involved in sensory perception (GO:0050974)2.98463280
143neuronal action potential propagation (GO:0019227)2.94960719
144exogenous drug catabolic process (GO:0042738)2.93544918
145startle response (GO:0001964)2.90384729
146synaptic vesicle docking involved in exocytosis (GO:0016081)2.90126861
147pyrimidine nucleobase catabolic process (GO:0006208)2.86952172
148regulation of establishment or maintenance of cell polarity (GO:0032878)2.86119691
149cellular response to sterol (GO:0036315)2.85138379
150G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.83643133
151negative regulation of mast cell activation (GO:0033004)2.77439662
152nucleobase catabolic process (GO:0046113)2.76293052
153auditory receptor cell stereocilium organization (GO:0060088)2.75489639
154snRNA transcription (GO:0009301)2.73120969
155synaptic transmission, glutamatergic (GO:0035249)2.73058498
156proline transport (GO:0015824)2.72962903
157retinal cone cell development (GO:0046549)2.71403891
158neuronal action potential (GO:0019228)2.70456720
159L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.70315375
160omega-hydroxylase P450 pathway (GO:0097267)2.67916079
161presynaptic membrane assembly (GO:0097105)2.67252718
162gamma-aminobutyric acid signaling pathway (GO:0007214)2.66064758
163cerebellar Purkinje cell differentiation (GO:0021702)2.65299766
164postsynaptic membrane organization (GO:0001941)2.64975983
165negative regulation of synaptic transmission, GABAergic (GO:0032229)2.63720573
166transmission of nerve impulse (GO:0019226)2.63692395
167fucose catabolic process (GO:0019317)2.63646255
168L-fucose metabolic process (GO:0042354)2.63646255
169L-fucose catabolic process (GO:0042355)2.63646255
170glutamate receptor signaling pathway (GO:0007215)2.61851771
171negative regulation of calcium ion transport into cytosol (GO:0010523)2.61120850
172tachykinin receptor signaling pathway (GO:0007217)2.59527990
173L-methionine salvage (GO:0071267)2.58141180
174L-methionine biosynthetic process (GO:0071265)2.58141180
175amino acid salvage (GO:0043102)2.58141180
176membrane depolarization during action potential (GO:0086010)2.57768348
177inner ear receptor stereocilium organization (GO:0060122)2.56031262
178interkinetic nuclear migration (GO:0022027)2.55471731
179ionotropic glutamate receptor signaling pathway (GO:0035235)2.53600248
180regulation of action potential (GO:0098900)2.53491958
181sphingoid metabolic process (GO:0046519)2.48260056
182UDP-N-acetylglucosamine metabolic process (GO:0006047)2.47820609
183negative regulation of sodium ion transport (GO:0010766)2.47722049
184dicarboxylic acid biosynthetic process (GO:0043650)2.46687189
185negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.45641148
186negative regulation of translation, ncRNA-mediated (GO:0040033)2.45641148
187regulation of translation, ncRNA-mediated (GO:0045974)2.45641148

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.62487032
2RXR_22158963_ChIP-Seq_LIVER_Mouse6.70659763
3EGR1_23403033_ChIP-Seq_LIVER_Mouse5.82522562
4PPARA_22158963_ChIP-Seq_LIVER_Mouse5.58614296
5* LXR_22158963_ChIP-Seq_LIVER_Mouse5.30646076
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.24596729
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.96580318
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.49635092
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.25197557
10* NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.21291824
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.76123944
12IGF1R_20145208_ChIP-Seq_DFB_Human2.75087803
13EZH2_22144423_ChIP-Seq_EOC_Human2.68412624
14POU3F2_20337985_ChIP-ChIP_501MEL_Human2.60181101
15CTBP2_25329375_ChIP-Seq_LNCAP_Human2.57533533
16ZNF274_21170338_ChIP-Seq_K562_Hela2.42282697
17CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.34433869
18* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.25987613
19SALL1_21062744_ChIP-ChIP_HESCs_Human2.16471364
20P300_19829295_ChIP-Seq_ESCs_Human2.09214174
21TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.03750321
22STAT3_23295773_ChIP-Seq_U87_Human1.99561120
23FLI1_27457419_Chip-Seq_LIVER_Mouse1.97523737
24SMAD4_21799915_ChIP-Seq_A2780_Human1.96962086
25FUS_26573619_Chip-Seq_HEK293_Human1.94779297
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.91202979
27PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.84419641
28HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.84122049
29HTT_18923047_ChIP-ChIP_STHdh_Human1.82892032
30EWS_26573619_Chip-Seq_HEK293_Human1.73851522
31UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.72938505
32PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.69645704
33TCF4_23295773_ChIP-Seq_U87_Human1.69525596
34BCAT_22108803_ChIP-Seq_LS180_Human1.66774476
35NR3C1_21868756_ChIP-Seq_MCF10A_Human1.66488385
36BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.66451959
37AR_25329375_ChIP-Seq_VCAP_Human1.62773163
38* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.60455324
39PCGF2_27294783_Chip-Seq_ESCs_Mouse1.59900828
40MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.59592231
41* SMAD3_21741376_ChIP-Seq_EPCs_Human1.55243126
42DROSHA_22980978_ChIP-Seq_HELA_Human1.55075871
43TP53_16413492_ChIP-PET_HCT116_Human1.54870638
44FOXA2_19822575_ChIP-Seq_HepG2_Human1.52408753
45CBP_20019798_ChIP-Seq_JUKART_Human1.51861693
46IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.51861693
47TAF15_26573619_Chip-Seq_HEK293_Human1.47720400
48* REST_21632747_ChIP-Seq_MESCs_Mouse1.46536791
49TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.43146551
50TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.40891190
51TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.40395674
52POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.40395674
53RUNX2_22187159_ChIP-Seq_PCA_Human1.36202958
54* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.35594741
55SUZ12_27294783_Chip-Seq_NPCs_Mouse1.35353723
56ARNT_22903824_ChIP-Seq_MCF-7_Human1.34819739
57TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.34666300
58EZH2_27294783_Chip-Seq_NPCs_Mouse1.34405854
59NANOG_18555785_Chip-Seq_ESCs_Mouse1.32190263
60TCF4_22108803_ChIP-Seq_LS180_Human1.31885459
61HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.30455655
62AHR_22903824_ChIP-Seq_MCF-7_Human1.30320735
63SMAD_19615063_ChIP-ChIP_OVARY_Human1.26863942
64KLF5_20875108_ChIP-Seq_MESCs_Mouse1.26490547
65FLI1_21867929_ChIP-Seq_TH2_Mouse1.25630109
66SOX2_27498859_Chip-Seq_STOMACH_Mouse1.24925157
67NFE2_27457419_Chip-Seq_LIVER_Mouse1.24632507
68PCGF2_27294783_Chip-Seq_NPCs_Mouse1.24331557
69* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23913684
70CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.23093960
71TP53_18474530_ChIP-ChIP_U2OS_Human1.22160023
72PRDM14_20953172_ChIP-Seq_ESCs_Human1.21786931
73EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.20547539
74ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.19396605
75SOX2_21211035_ChIP-Seq_LN229_Gbm1.18980738
76TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.18709076
77ESR2_21235772_ChIP-Seq_MCF-7_Human1.17629578
78NRF2_20460467_ChIP-Seq_MEFs_Mouse1.14804030
79NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.14804030
80MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.14509837
81P53_22387025_ChIP-Seq_ESCs_Mouse1.14219780
82PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.13845102
83CDX2_22108803_ChIP-Seq_LS180_Human1.13342787
84CBX2_27304074_Chip-Seq_ESCs_Mouse1.13313901
85CRX_20693478_ChIP-Seq_RETINA_Mouse1.12304932
86E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.12270145
87TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11789599
88E2F1_18555785_Chip-Seq_ESCs_Mouse1.11221983
89KDM2B_26808549_Chip-Seq_REH_Human1.10593402
90RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.08460901
91TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.08186673
92EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.07545406
93CLOCK_20551151_ChIP-Seq_293T_Human1.06790863
94RNF2_27304074_Chip-Seq_NSC_Mouse1.06508729
95OCT4_21477851_ChIP-Seq_ESCs_Mouse1.06325800
96CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.06240630
97HNF4A_19822575_ChIP-Seq_HepG2_Human1.05924932
98CMYC_18555785_Chip-Seq_ESCs_Mouse1.05508755
99TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.05241018
100TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04967832
101TRIM28_21343339_ChIP-Seq_HEK293_Human1.03616660
102FOXM1_26456572_ChIP-Seq_MCF-7_Human1.03539132
103SMAD3_21741376_ChIP-Seq_HESCs_Human1.03175106
104KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.02742646
105* AR_19668381_ChIP-Seq_PC3_Human1.02509901
106STAT3_18555785_Chip-Seq_ESCs_Mouse1.01729526
107SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.00702141
108STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.00445850
109ESR1_20079471_ChIP-ChIP_T-47D_Human0.96487456
110AUTS2_25519132_ChIP-Seq_293T-REX_Human0.96344337
111FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.93837405
112PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.93641214
113ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.91273903
114CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.88931965
115* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.88870265
116PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.86367633
117FOXO3_23340844_ChIP-Seq_DLD1_Human0.85495343
118ERG_21242973_ChIP-ChIP_JURKAT_Human0.84772375
119GATA4_25053715_ChIP-Seq_YYC3_Human0.82679419
120RXRA_24833708_ChIP-Seq_LIVER_Mouse0.82177346
121SALL4_18804426_ChIP-ChIP_XEN_Mouse0.81809406
122CBP_21632823_ChIP-Seq_H3396_Human0.81190208
123EGR1_19032775_ChIP-ChIP_M12_Human0.80734566
124GBX2_23144817_ChIP-Seq_PC3_Human0.78860494
125BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.78685541
126PIAS1_25552417_ChIP-Seq_VCAP_Human0.77894872
127SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.75342680
128SOX2_20726797_ChIP-Seq_SW620_Human0.74873605
129FOXA1_25552417_ChIP-Seq_VCAP_Human0.72651430
130OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.72076293
131CDX2_19796622_ChIP-Seq_MESCs_Mouse0.71678770
132RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.71651465
133* SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.69695827
134ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.69067054
135SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.68885247
136EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.68792566
137EOMES_21245162_ChIP-Seq_HESCs_Human0.68390288
138NCOR_22424771_ChIP-Seq_293T_Human0.67868287
139MTF2_20144788_ChIP-Seq_MESCs_Mouse0.67817182
140AR_21572438_ChIP-Seq_LNCaP_Human0.66781188
141MYC_19915707_ChIP-ChIP_AK7_Human0.66635579
142STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.66336665
143AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.65064316
144EED_16625203_ChIP-ChIP_MESCs_Mouse0.64559576
145RAD21_21589869_ChIP-Seq_MESCs_Mouse0.63677943
146CEBPB_22108803_ChIP-Seq_LS180_Human0.63042411
147FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.62615653
148ER_23166858_ChIP-Seq_MCF-7_Human0.60905483
149PPAR_26484153_Chip-Seq_NCI-H1993_Human0.60761415
150THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.60734605
151IRF1_19129219_ChIP-ChIP_H3396_Human0.60068664
152TAL1_26923725_Chip-Seq_HPCs_Mouse0.58472364
153ESET_19884257_ChIP-Seq_ESCs_Mouse0.58084460
154CTBP1_25329375_ChIP-Seq_LNCAP_Human0.57890707
155OCT4_20526341_ChIP-Seq_ESCs_Human0.57781428
156VDR_22108803_ChIP-Seq_LS180_Human0.57685359
157SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.57598376
158ZFP57_27257070_Chip-Seq_ESCs_Mouse0.57323975
159CTCF_20526341_ChIP-Seq_ESCs_Human0.57062745
160BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.56855897
161ZNF217_24962896_ChIP-Seq_MCF-7_Human0.56813117
162SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.55981492
163EZH2_27294783_Chip-Seq_ESCs_Mouse0.55793414
164GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.54862076
165SUZ12_27294783_Chip-Seq_ESCs_Mouse0.54606815
166P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.54556097
167* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.54398630
168* SMAD4_21741376_ChIP-Seq_EPCs_Human0.54352490
169P53_21459846_ChIP-Seq_SAOS-2_Human0.54157424
170NANOG_19829295_ChIP-Seq_ESCs_Human0.54006698
171SOX2_19829295_ChIP-Seq_ESCs_Human0.54006698
172GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.53794004
173TP63_17297297_ChIP-ChIP_HaCaT_Human0.53248772
174GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.53137367
175ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.52910713
176* TP63_23658742_ChIP-Seq_EP156T_Human0.52638619
177EZH2_18974828_ChIP-Seq_MESCs_Mouse0.52249412

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.59620270
2MP0005360_urolithiasis6.71648863
3MP0005085_abnormal_gallbladder_physiolo5.76162265
4MP0005365_abnormal_bile_salt5.25996001
5MP0003806_abnormal_nucleotide_metabolis4.79503428
6MP0008875_abnormal_xenobiotic_pharmacok4.77866934
7MP0000569_abnormal_digit_pigmentation4.73466589
8MP0003252_abnormal_bile_duct3.42103703
9MP0009046_muscle_twitch3.12153078
10MP0009840_abnormal_foam_cell3.02016089
11MP0010329_abnormal_lipoprotein_level2.86777616
12MP0005083_abnormal_biliary_tract2.82683042
13MP0003195_calcinosis2.73851363
14MP0001968_abnormal_touch/_nociception2.69382381
15MP0002736_abnormal_nociception_after2.67534948
16MP0001501_abnormal_sleep_pattern2.61354707
17MP0005332_abnormal_amino_acid2.56695667
18MP0009745_abnormal_behavioral_response2.53474290
19MP0001666_abnormal_nutrient_absorption2.46967266
20MP0000920_abnormal_myelination2.31437830
21MP0001984_abnormal_olfaction2.19669653
22MP0008057_abnormal_DNA_replication2.15257623
23MP0002064_seizures2.07504196
24MP0002118_abnormal_lipid_homeostasis2.01676892
25MP0002735_abnormal_chemical_nociception1.98382008
26MP0005451_abnormal_body_composition1.96548229
27MP0002272_abnormal_nervous_system1.93112227
28MP0003329_amyloid_beta_deposits1.92478937
29MP0003635_abnormal_synaptic_transmissio1.87470675
30MP0003191_abnormal_cellular_cholesterol1.83400550
31MP0001486_abnormal_startle_reflex1.82678085
32MP0002572_abnormal_emotion/affect_behav1.80422861
33MP0004019_abnormal_vitamin_homeostasis1.78344900
34MP0006276_abnormal_autonomic_nervous1.77702580
35MP0003646_muscle_fatigue1.71379638
36MP0004381_abnormal_hair_follicle1.70909784
37MP0005253_abnormal_eye_physiology1.65611321
38MP0008877_abnormal_DNA_methylation1.65214271
39MP0003690_abnormal_glial_cell1.64227591
40MP0000609_abnormal_liver_physiology1.63655589
41MP0000604_amyloidosis1.61682790
42MP0003880_abnormal_central_pattern1.61107066
43MP0003011_delayed_dark_adaptation1.57273275
44MP0002063_abnormal_learning/memory/cond1.57221904
45MP0003868_abnormal_feces_composition1.56706605
46MP0004859_abnormal_synaptic_plasticity1.56324809
47MP0005584_abnormal_enzyme/coenzyme_acti1.55636699
48MP0004924_abnormal_behavior1.55272233
49MP0005386_behavior/neurological_phenoty1.55272233
50MP0005670_abnormal_white_adipose1.50846909
51MP0010386_abnormal_urinary_bladder1.50167375
52MP0005174_abnormal_tail_pigmentation1.48581043
53MP0005645_abnormal_hypothalamus_physiol1.46800755
54MP0001970_abnormal_pain_threshold1.43137915
55MP0002102_abnormal_ear_morphology1.42203331
56MP0003787_abnormal_imprinting1.41466943
57MP0008872_abnormal_physiological_respon1.40545832
58MP0005646_abnormal_pituitary_gland1.39188277
59MP0002067_abnormal_sensory_capabilities1.38045997
60MP0002138_abnormal_hepatobiliary_system1.36643996
61MP0005319_abnormal_enzyme/_coenzyme1.33037099
62MP0002733_abnormal_thermal_nociception1.32692107
63MP0000778_abnormal_nervous_system1.31844470
64MP0002796_impaired_skin_barrier1.30924207
65MP0002638_abnormal_pupillary_reflex1.29995957
66MP0005408_hypopigmentation1.29640454
67MP0002734_abnormal_mechanical_nocicepti1.29103603
68MP0002557_abnormal_social/conspecific_i1.26653263
69MP0001485_abnormal_pinna_reflex1.25104373
70MP0006072_abnormal_retinal_apoptosis1.23122159
71MP0001764_abnormal_homeostasis1.22898358
72MP0003656_abnormal_erythrocyte_physiolo1.20099884
73MP0001986_abnormal_taste_sensitivity1.19786735
74MP0002837_dystrophic_cardiac_calcinosis1.19361533
75MP0005647_abnormal_sex_gland1.18262534
76MP0003186_abnormal_redox_activity1.16115365
77MP0009697_abnormal_copulation1.13312506
78MP0005171_absent_coat_pigmentation1.13153795
79MP0002928_abnormal_bile_duct1.11900124
80MP0003950_abnormal_plasma_membrane1.09224304
81MP0003045_fibrosis1.08942682
82MP0000371_diluted_coat_color1.08479460
83MP0003890_abnormal_embryonic-extraembry1.07836120
84MP0005310_abnormal_salivary_gland1.07618478
85MP0000579_abnormal_nail_morphology1.06677033
86MP0003633_abnormal_nervous_system1.06298862
87MP0009643_abnormal_urine_homeostasis1.05440612
88MP0010678_abnormal_skin_adnexa1.03856522
89MP0002184_abnormal_innervation1.02377990
90MP0002254_reproductive_system_inflammat1.01828052
91MP0000631_abnormal_neuroendocrine_gland1.01087693
92MP0002882_abnormal_neuron_morphology0.99360770
93MP0001440_abnormal_grooming_behavior0.95918199
94MP0002909_abnormal_adrenal_gland0.95793886
95MP0004885_abnormal_endolymph0.94644712
96MP0005187_abnormal_penis_morphology0.94441611
97MP0002938_white_spotting0.93215705
98MP0003183_abnormal_peptide_metabolism0.93036338
99MP0001661_extended_life_span0.92316666
100MP0005636_abnormal_mineral_homeostasis0.92106908
101MP0002095_abnormal_skin_pigmentation0.90509648
102MP0000015_abnormal_ear_pigmentation0.89103340
103MP0000647_abnormal_sebaceous_gland0.88222490
104MP0004130_abnormal_muscle_cell0.87895471
105MP0000955_abnormal_spinal_cord0.87232826
106MP0005167_abnormal_blood-brain_barrier0.86928133
107MP0003632_abnormal_nervous_system0.85657584
108MP0005423_abnormal_somatic_nervous0.85386647
109MP0008961_abnormal_basal_metabolism0.84409049
110MP0000383_abnormal_hair_follicle0.84008327
111MP0003137_abnormal_impulse_conducting0.82627016
112MP0005195_abnormal_posterior_eye0.81423135
113MP0000639_abnormal_adrenal_gland0.81180175
114MP0002234_abnormal_pharynx_morphology0.80926151
115MP0004147_increased_porphyrin_level0.80075885
116MP0000538_abnormal_urinary_bladder0.80036532
117MP0002752_abnormal_somatic_nervous0.79737645
118MP0002168_other_aberrant_phenotype0.79004045
119MP0002090_abnormal_vision0.78301081
120MP0004142_abnormal_muscle_tone0.78004333
121MP0000598_abnormal_liver_morphology0.77845083
122MP0009763_increased_sensitivity_to0.77399698
123MP0009765_abnormal_xenobiotic_induced0.75017525
124MP0000467_abnormal_esophagus_morphology0.73395147
125MP0000462_abnormal_digestive_system0.73233421
126MP0004043_abnormal_pH_regulation0.68405943
127MP0004742_abnormal_vestibular_system0.66700201
128MP0009379_abnormal_foot_pigmentation0.66244982
129MP0003634_abnormal_glial_cell0.65557415
130MP0005376_homeostasis/metabolism_phenot0.64926184
131MP0001529_abnormal_vocalization0.64798894
132MP0002876_abnormal_thyroid_physiology0.64432738
133MP0003453_abnormal_keratinocyte_physiol0.62014795
134MP0003718_maternal_effect0.62010046
135MP0002229_neurodegeneration0.61933346
136MP0001905_abnormal_dopamine_level0.61867195
137MP0009642_abnormal_blood_homeostasis0.61346707
138MP0010368_abnormal_lymphatic_system0.60734218
139MP0000566_synostosis0.60373318
140MP0004270_analgesia0.60369694
141MP0009764_decreased_sensitivity_to0.59011663
142MP0006036_abnormal_mitochondrial_physio0.58758050
143MP0005501_abnormal_skin_physiology0.56869675
144MP0009384_cardiac_valve_regurgitation0.55985841
145MP0005084_abnormal_gallbladder_morpholo0.53689140
146MP0003631_nervous_system_phenotype0.52664580
147MP0009053_abnormal_anal_canal0.52044131
148MP0005410_abnormal_fertilization0.51564443
149MP0008469_abnormal_protein_level0.51159793
150MP0005551_abnormal_eye_electrophysiolog0.50063399
151MP0002295_abnormal_pulmonary_circulatio0.49473855
152MP0005220_abnormal_exocrine_pancreas0.49310262
153MP0001177_atelectasis0.49031001
154MP0008874_decreased_physiological_sensi0.48781842
155MP0001346_abnormal_lacrimal_gland0.48504653
156MP0000427_abnormal_hair_cycle0.48427750
157MP0003136_yellow_coat_color0.48212387
158MP0000377_abnormal_hair_follicle0.47749266
159MP0006082_CNS_inflammation0.45293916
160MP0002098_abnormal_vibrissa_morphology0.44772076
161MP0005058_abnormal_lysosome_morphology0.44236964
162MP0001340_abnormal_eyelid_morphology0.43732913
163MP0002971_abnormal_brown_adipose0.43690139
164MP0002060_abnormal_skin_morphology0.43620103
165MP0001243_abnormal_dermal_layer0.42362030
166MP0005266_abnormal_metabolism0.41643186
167MP0003638_abnormal_response/metabolism_0.41594527
168MP0005395_other_phenotype0.40954243
169MP0005535_abnormal_body_temperature0.40013376
170MP0008873_increased_physiological_sensi0.39942578
171MP0000230_abnormal_systemic_arterial0.39216502

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.37720272
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.21188518
3Deep venous thrombosis (HP:0002625)6.47187224
4Xanthomatosis (HP:0000991)5.69694597
5Genetic anticipation (HP:0003743)5.67310910
6Abnormality of monocarboxylic acid metabolism (HP:0010996)5.64727423
7Prolonged partial thromboplastin time (HP:0003645)5.54721441
8Hypobetalipoproteinemia (HP:0003563)5.42314332
9Hyperlipoproteinemia (HP:0010980)5.15154621
10Hyperventilation (HP:0002883)5.11822288
11Complement deficiency (HP:0004431)5.11277526
12Progressive cerebellar ataxia (HP:0002073)4.71799181
13Gaze-evoked nystagmus (HP:0000640)4.40990730
14Pancreatic cysts (HP:0001737)4.16615865
15Fat malabsorption (HP:0002630)4.10771499
16Abnormality of methionine metabolism (HP:0010901)4.09315042
17Epidermoid cyst (HP:0200040)4.08476487
18Abnormality of aspartate family amino acid metabolism (HP:0010899)3.86580108
19Hypolipoproteinemia (HP:0010981)3.79687911
20Hyperammonemia (HP:0001987)3.74354910
21Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.67282301
22Abnormality of sulfur amino acid metabolism (HP:0004339)3.64736421
23Hyperglycinemia (HP:0002154)3.64472672
24Joint hemorrhage (HP:0005261)3.63868044
25True hermaphroditism (HP:0010459)3.62261151
26Abnormality of complement system (HP:0005339)3.58690756
27Pancreatic fibrosis (HP:0100732)3.58634551
28Neurofibrillary tangles (HP:0002185)3.56259934
29Conjugated hyperbilirubinemia (HP:0002908)3.52806408
30Abnormality of glycine metabolism (HP:0010895)3.50640947
31Abnormality of serine family amino acid metabolism (HP:0010894)3.50640947
32Abnormality of the common coagulation pathway (HP:0010990)3.49781733
33Ketosis (HP:0001946)3.46578631
34Steatorrhea (HP:0002570)3.41316480
35Febrile seizures (HP:0002373)3.31606179
36Focal seizures (HP:0007359)3.31259554
37Fair hair (HP:0002286)3.30871956
38Protruding tongue (HP:0010808)3.29978397
39Degeneration of the lateral corticospinal tracts (HP:0002314)3.29417130
40Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.29417130
41Congenital sensorineural hearing impairment (HP:0008527)3.20721183
42Attenuation of retinal blood vessels (HP:0007843)3.17072861
43Abnormality of glutamine family amino acid metabolism (HP:0010902)3.12354953
44Parakeratosis (HP:0001036)3.12261905
45Dialeptic seizures (HP:0011146)3.11305266
46Hypoalphalipoproteinemia (HP:0003233)3.08472285
47Focal motor seizures (HP:0011153)3.06404530
48Dysmetric saccades (HP:0000641)3.04169046
49Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.03633093
50Congenital stationary night blindness (HP:0007642)3.03230525
51Absence seizures (HP:0002121)2.97827412
52Absent speech (HP:0001344)2.97237815
53Aplasia/Hypoplasia of the tibia (HP:0005772)2.96855106
54Clumsiness (HP:0002312)2.94665924
55Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.92983296
56Abnormality of midbrain morphology (HP:0002418)2.90073265
57Molar tooth sign on MRI (HP:0002419)2.90073265
58Hyperglycinuria (HP:0003108)2.88362026
59Delayed CNS myelination (HP:0002188)2.86391717
60Abnormality of the intrinsic pathway (HP:0010989)2.84811757
61Chronic hepatic failure (HP:0100626)2.84086181
62Abnormality of fatty-acid metabolism (HP:0004359)2.83455550
63Hypercholesterolemia (HP:0003124)2.82593054
64Hypoglycemic coma (HP:0001325)2.79470578
65Broad-based gait (HP:0002136)2.77142584
66Abnormality of the renal cortex (HP:0011035)2.76538242
67Inability to walk (HP:0002540)2.74109000
68Abnormality of the corticospinal tract (HP:0002492)2.73726911
69Hyperbilirubinemia (HP:0002904)2.72993079
70Cystic liver disease (HP:0006706)2.70471614
71Cerebral inclusion bodies (HP:0100314)2.69912927
72Urinary bladder sphincter dysfunction (HP:0002839)2.69425168
73Nephronophthisis (HP:0000090)2.68729679
74Abnormality of alanine metabolism (HP:0010916)2.67929050
75Hyperalaninemia (HP:0003348)2.67929050
76Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.67929050
77Generalized hypopigmentation of hair (HP:0011358)2.67288795
78Cholecystitis (HP:0001082)2.59902647
79Abnormal gallbladder physiology (HP:0012438)2.59902647
80Abnormality of serum amino acid levels (HP:0003112)2.55452169
81Abnormality of the renal medulla (HP:0100957)2.55297996
82Vascular calcification (HP:0004934)2.55261723
83Abolished electroretinogram (ERG) (HP:0000550)2.54813660
84Medial flaring of the eyebrow (HP:0010747)2.54158345
85Abnormality of glycolysis (HP:0004366)2.49598978
86Increased serum pyruvate (HP:0003542)2.49598978
87Hypochromic microcytic anemia (HP:0004840)2.49184919
88Bony spicule pigmentary retinopathy (HP:0007737)2.48257937
89Spastic paraparesis (HP:0002313)2.47148405
90Progressive inability to walk (HP:0002505)2.46324527
91Amyloidosis (HP:0011034)2.45596348
92Abnormal gallbladder morphology (HP:0012437)2.42870372
93Abnormality of pyrimidine metabolism (HP:0004353)2.39107936
94Gait imbalance (HP:0002141)2.39063732
95Hypophosphatemic rickets (HP:0004912)2.36818057
96Spontaneous abortion (HP:0005268)2.35016182
97Malnutrition (HP:0004395)2.34158696
98Action tremor (HP:0002345)2.34075933
99Rickets (HP:0002748)2.32335530
100Drooling (HP:0002307)2.31925318
101Cerebral edema (HP:0002181)2.31003400
102Metabolic acidosis (HP:0001942)2.30090994
103Irritability (HP:0000737)2.28031831
104Increased neuronal autofluorescent lipopigment (HP:0002074)2.27258082
105Lethargy (HP:0001254)2.27049383
106Hepatocellular carcinoma (HP:0001402)2.26846154
107Systemic lupus erythematosus (HP:0002725)2.26426806
108Sensory axonal neuropathy (HP:0003390)2.26015490
109Furrowed tongue (HP:0000221)2.25315247
110Hemiparesis (HP:0001269)2.24428340
111Widely spaced teeth (HP:0000687)2.24246444
112Abnormality of dicarboxylic acid metabolism (HP:0010995)2.22257751
113Dicarboxylic aciduria (HP:0003215)2.22257751
114Cardiovascular calcification (HP:0011915)2.21944784
115Large for gestational age (HP:0001520)2.20035360
116Cholelithiasis (HP:0001081)2.19953660
117Opisthotonus (HP:0002179)2.19912375
118Congenital primary aphakia (HP:0007707)2.19424320
119Ketoacidosis (HP:0001993)2.19421098
120Acanthocytosis (HP:0001927)2.17256156
121Keratoconus (HP:0000563)2.15178788
122Increased corneal curvature (HP:0100692)2.15178788
123Brushfield spots (HP:0001088)2.15140031
124Spastic diplegia (HP:0001264)2.14706608
125Cerebellar dysplasia (HP:0007033)2.13614756
126Skin nodule (HP:0200036)2.12144641
127Lissencephaly (HP:0001339)2.12060637
128Sclerocornea (HP:0000647)2.11579431
129Tubular atrophy (HP:0000092)2.10614324
130Abnormality of nucleobase metabolism (HP:0010932)2.10237078
131Impaired smooth pursuit (HP:0007772)2.10207439
132Decreased circulating renin level (HP:0003351)2.10158524
133Hypoplastic labia majora (HP:0000059)2.09395654
134Cerebral hemorrhage (HP:0001342)2.08685841
135Atonic seizures (HP:0010819)2.08508476
136Abnormality of vitamin metabolism (HP:0100508)2.07291333
137Preaxial foot polydactyly (HP:0001841)2.06716329
138Abnormality of the ischium (HP:0003174)2.05795385
139Myocardial infarction (HP:0001658)2.04185007
140Type II lissencephaly (HP:0007260)2.04041221
141Excessive salivation (HP:0003781)2.03979508
142Aplasia/Hypoplasia of the tongue (HP:0010295)2.03924635
143Postural instability (HP:0002172)2.03662938
144Genital tract atresia (HP:0001827)2.03112909
145Pendular nystagmus (HP:0012043)2.02804721
146Spastic paraplegia (HP:0001258)2.00650416
147Epileptic encephalopathy (HP:0200134)1.99642219
148Abnormality of the gallbladder (HP:0005264)1.99174367
149Nephrogenic diabetes insipidus (HP:0009806)1.97426213
150Axonal loss (HP:0003447)1.96985089
151Abnormality of macular pigmentation (HP:0008002)1.96529906
152Central scotoma (HP:0000603)1.96485547
153Abnormality of purine metabolism (HP:0004352)1.95801649
154Hypoplastic ischia (HP:0003175)1.94400160
155Chorioretinal atrophy (HP:0000533)1.94062757
156Vaginal atresia (HP:0000148)1.93770223
157Paraplegia (HP:0010550)1.92312305
158Blue irides (HP:0000635)1.91792128
159Abnormality of the labia majora (HP:0012881)1.91363236
160Intention tremor (HP:0002080)1.91224866
161Methylmalonic acidemia (HP:0002912)1.90504681
162Congenital ichthyosiform erythroderma (HP:0007431)1.89547371
163Alkalosis (HP:0001948)1.88421225
164Epileptiform EEG discharges (HP:0011182)1.86624179
165Congenital hepatic fibrosis (HP:0002612)1.86265092
166Vomiting (HP:0002013)1.86262898
167Gout (HP:0001997)1.86123438
168Renal cortical cysts (HP:0000803)1.85963106
169Intestinal atresia (HP:0011100)1.85805017
170Abnormal enzyme/coenzyme activity (HP:0012379)1.84968598
171Abnormal drinking behavior (HP:0030082)1.83556141
172Polydipsia (HP:0001959)1.83556141
173Hypoglycemic seizures (HP:0002173)1.83232459
174Paraparesis (HP:0002385)1.82703425
175Patellar aplasia (HP:0006443)1.82622904
176Hemorrhage of the eye (HP:0011885)1.82175507
177Pancreatitis (HP:0001733)1.81781716
178Small hand (HP:0200055)1.81731845
179Spastic gait (HP:0002064)1.81552109
180EEG with generalized epileptiform discharges (HP:0011198)1.81057803
181Highly arched eyebrow (HP:0002553)1.80843375
182Poor coordination (HP:0002370)1.80449796
183Hypsarrhythmia (HP:0002521)1.80012833
184Enlarged kidneys (HP:0000105)1.80007577
185Spastic tetraparesis (HP:0001285)1.79971133
186Morphological abnormality of the pyramidal tract (HP:0002062)1.79936952
187Short foot (HP:0001773)1.79811984
188Glomerulonephritis (HP:0000099)1.79721784
189Confusion (HP:0001289)1.79553270
190Decreased central vision (HP:0007663)1.79052936
191Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.78488591
192Neonatal onset (HP:0003623)1.77729428
193Intellectual disability, progressive (HP:0006887)1.77249097
194Bile duct proliferation (HP:0001408)1.75348876
195Abnormal biliary tract physiology (HP:0012439)1.75348876
196Male pseudohermaphroditism (HP:0000037)1.74938772
197Sensorimotor neuropathy (HP:0007141)1.73631437
198Cupped ear (HP:0000378)1.73248765
199Anencephaly (HP:0002323)1.72662432
200Preaxial hand polydactyly (HP:0001177)1.72080339

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK395.30560396
2OXSR13.98898588
3BCKDK3.98382445
4EPHB13.44887293
5ACVR1B3.05772476
6MET3.01138578
7BMPR1B2.75209208
8PKN12.74217961
9PBK2.73455529
10FGFR22.62552650
11ERBB42.52395538
12BCR2.52220177
13WNK32.26304751
14ADRBK22.17012138
15WNK42.07364581
16CSNK1G32.03895476
17FGFR42.00757598
18FRK10.0956135
19MAPK131.97522874
20LIMK11.96352553
21SIK11.94717693
22MAPKAPK51.93048256
23CSNK1A1L1.92583419
24NTRK31.88643125
25TESK21.82871028
26MAP3K41.81811983
27STK38L1.77810051
28CSNK1G11.75238018
29CDK191.74416259
30MST1R1.68343975
31ZAK1.58054763
32ERN11.51763042
33CSNK1G21.51017983
34MAP4K21.50501616
35INSRR1.46170168
36CAMK2G1.38133123
37MAPK151.34634149
38CAMK2B1.33674888
39MKNK21.33575913
40MST41.33099946
41PRPF4B1.26398634
42NTRK11.25422680
43PIK3CG1.20469686
44WNK11.20208164
45FER1.20176569
46ICK1.19136757
47ABL21.12294026
48TAOK31.09631743
49CAMKK21.08307818
50ADRBK11.08240846
51DYRK21.05712307
52SGK4941.03258113
53SGK2231.03258113
54AKT31.02360944
55MAP2K71.01107896
56PAK31.00086878
57TGFBR10.99795288
58PRKCG0.99017184
59NUAK10.96908062
60ROCK20.96873251
61CAMK2D0.96670766
62EPHA40.95377601
63TNIK0.94934202
64PRKCQ0.86843419
65UHMK10.86637466
66MARK10.85927739
67STK30.85629874
68FGR0.85514694
69TRIM280.84335228
70SGK20.83112787
71STK380.81700411
72GSK3A0.80787223
73MAP2K40.80103176
74PLK20.78785671
75PDPK10.78175543
76MAP2K20.77737616
77NTRK20.73716397
78SIK20.73299407
79CAMK1G0.69826231
80BRD40.69116159
81ERBB20.68945608
82PRKCZ0.68770512
83CAMK2A0.67989037
84PRKD10.66677629
85IRAK10.66578725
86PNCK0.66191837
87PTK2B0.65959776
88MAPK40.65653003
89MAPK110.65517758
90ERBB30.64104884
91TRPM70.63163072
92LATS10.60888282
93NEK60.60480633
94BRSK20.57823397
95MAP3K70.55037389
96TXK0.54479273
97CSNK1D0.53422458
98MARK20.51596685
99MAPK70.51328476
100MAP3K20.50468467
101PTK60.50335467
102PRKAA10.48881776
103MKNK10.48824813
104CAMK1D0.48083601
105MAP3K130.46521759
106MAPKAPK30.46022477
107GRK10.45600020
108CDK140.44910871
109PTK20.44591886
110CLK10.44501461
111PRKACB0.43812160
112GRK70.43248553
113PRKG10.43194815
114PRKACG0.42381754
115STK110.41358437
116MAP2K10.40696359
117PHKG10.40372282
118PHKG20.40372282
119JAK20.39198723
120TYRO30.38655374
121CHEK20.38354735
122CDK50.38237090
123PRKCE0.38034904
124PIK3CA0.37811559
125CAMK10.37516740
126MAPK120.37470627
127PRKAA20.36984923
128PAK20.36778813
129SGK10.35891733
130CDK30.35877294
131CASK0.35838562
132CSNK1E0.35686236
133CAMK40.35382898
134CDK150.35232466
135FYN0.34168467
136DAPK20.34147406
137DAPK30.33958063
138PAK60.32304491
139BMX0.32294061
140MELK0.32232452
141EPHA30.31761353
142EGFR0.31744014
143KSR20.31715806
144PRKCH0.30824078
145DYRK1B0.30705760
146PINK10.30687327
147CSNK1A10.29324004
148GRK50.28967088
149PDK10.28062251
150PRKACA0.27923349
151CDK180.27678431
152IRAK20.27289498
153DYRK1A0.27232119
154PRKCB0.25963510
155PRKCA0.25838442
156RPS6KA30.25767142
157NLK0.25720730
158TNK20.25615700

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.16998284
2Nicotine addiction_Homo sapiens_hsa050333.40763157
3Nitrogen metabolism_Homo sapiens_hsa009103.28439381
4Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.23014066
5Steroid biosynthesis_Homo sapiens_hsa001002.80869204
6Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.80632423
7Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.78607390
8Fatty acid elongation_Homo sapiens_hsa000622.71942805
9Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.55249383
10Arginine biosynthesis_Homo sapiens_hsa002202.49884227
11Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.48823966
12Complement and coagulation cascades_Homo sapiens_hsa046102.41948600
13Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.38172245
14Butanoate metabolism_Homo sapiens_hsa006502.37831094
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.37265253
16Histidine metabolism_Homo sapiens_hsa003402.37174890
17Tryptophan metabolism_Homo sapiens_hsa003802.36981864
18Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.24373498
19Fatty acid degradation_Homo sapiens_hsa000712.13364213
20Phototransduction_Homo sapiens_hsa047442.12365204
21Peroxisome_Homo sapiens_hsa041462.03089569
22Morphine addiction_Homo sapiens_hsa050321.97207555
23Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.94770616
24Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.91284863
25Chemical carcinogenesis_Homo sapiens_hsa052041.90550797
26Propanoate metabolism_Homo sapiens_hsa006401.90061045
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.87132841
28* Steroid hormone biosynthesis_Homo sapiens_hsa001401.86153625
29Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.85059454
30Fatty acid metabolism_Homo sapiens_hsa012121.83824157
31Sulfur metabolism_Homo sapiens_hsa009201.82143773
32GABAergic synapse_Homo sapiens_hsa047271.81117771
33Taste transduction_Homo sapiens_hsa047421.78461876
34Pentose and glucuronate interconversions_Homo sapiens_hsa000401.78249903
35Retinol metabolism_Homo sapiens_hsa008301.77591067
36Glutamatergic synapse_Homo sapiens_hsa047241.77590636
37Circadian entrainment_Homo sapiens_hsa047131.63921337
38Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.63239159
39Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.62321878
40beta-Alanine metabolism_Homo sapiens_hsa004101.62250394
41Vitamin B6 metabolism_Homo sapiens_hsa007501.61817424
42PPAR signaling pathway_Homo sapiens_hsa033201.61039228
43Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.57931382
44Serotonergic synapse_Homo sapiens_hsa047261.50187540
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.46428337
46Tyrosine metabolism_Homo sapiens_hsa003501.45956223
47Phenylalanine metabolism_Homo sapiens_hsa003601.40711652
48Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.39072074
49Salivary secretion_Homo sapiens_hsa049701.36053235
50Pyruvate metabolism_Homo sapiens_hsa006201.34360942
51Olfactory transduction_Homo sapiens_hsa047401.34089972
52Staphylococcus aureus infection_Homo sapiens_hsa051501.33946016
53Caffeine metabolism_Homo sapiens_hsa002321.33560320
54Bile secretion_Homo sapiens_hsa049761.31902801
55Folate biosynthesis_Homo sapiens_hsa007901.31072765
56Drug metabolism - other enzymes_Homo sapiens_hsa009831.29597106
57Arginine and proline metabolism_Homo sapiens_hsa003301.21102946
58Insulin secretion_Homo sapiens_hsa049111.16902916
59Calcium signaling pathway_Homo sapiens_hsa040201.15278002
60Dorso-ventral axis formation_Homo sapiens_hsa043201.15145758
61Selenocompound metabolism_Homo sapiens_hsa004501.12223862
62Cysteine and methionine metabolism_Homo sapiens_hsa002701.12196357
63Long-term depression_Homo sapiens_hsa047301.07457071
64ABC transporters_Homo sapiens_hsa020101.06480627
65Fat digestion and absorption_Homo sapiens_hsa049751.04450156
66Dopaminergic synapse_Homo sapiens_hsa047281.03772024
67Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.03729467
68Glutathione metabolism_Homo sapiens_hsa004801.01882393
69Cyanoamino acid metabolism_Homo sapiens_hsa004601.00215067
70Cholinergic synapse_Homo sapiens_hsa047250.95211804
71Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.92071148
722-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.91410240
73Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.91009611
74Biosynthesis of amino acids_Homo sapiens_hsa012300.90221310
75Vitamin digestion and absorption_Homo sapiens_hsa049770.90123804
76Starch and sucrose metabolism_Homo sapiens_hsa005000.88320485
77Vascular smooth muscle contraction_Homo sapiens_hsa042700.84195527
78Gastric acid secretion_Homo sapiens_hsa049710.82974790
79Carbon metabolism_Homo sapiens_hsa012000.81054522
80cAMP signaling pathway_Homo sapiens_hsa040240.79417769
81Homologous recombination_Homo sapiens_hsa034400.79106039
82Sulfur relay system_Homo sapiens_hsa041220.77884050
83Fanconi anemia pathway_Homo sapiens_hsa034600.77735545
84Cocaine addiction_Homo sapiens_hsa050300.75535820
85Type II diabetes mellitus_Homo sapiens_hsa049300.74213082
86Maturity onset diabetes of the young_Homo sapiens_hsa049500.74045560
87alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.73277398
88Circadian rhythm_Homo sapiens_hsa047100.72703572
89Linoleic acid metabolism_Homo sapiens_hsa005910.72243929
90Renin secretion_Homo sapiens_hsa049240.71469998
91Oxytocin signaling pathway_Homo sapiens_hsa049210.71025033
92Ether lipid metabolism_Homo sapiens_hsa005650.69489700
93Amphetamine addiction_Homo sapiens_hsa050310.68658329
94Fatty acid biosynthesis_Homo sapiens_hsa000610.66014233
95Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.65244215
96Glycerolipid metabolism_Homo sapiens_hsa005610.59727304
97Metabolic pathways_Homo sapiens_hsa011000.58311147
98Aldosterone synthesis and secretion_Homo sapiens_hsa049250.57639070
99Prion diseases_Homo sapiens_hsa050200.54427082
100Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.53136732
101Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.53023475
102Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.49586885
103Lysine degradation_Homo sapiens_hsa003100.47877726
104Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.45713880
105Synaptic vesicle cycle_Homo sapiens_hsa047210.44299993
106Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.43917742
107cGMP-PKG signaling pathway_Homo sapiens_hsa040220.41785144
108Pancreatic secretion_Homo sapiens_hsa049720.40985286
109Phosphatidylinositol signaling system_Homo sapiens_hsa040700.39171462
110Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.37995558
111Pentose phosphate pathway_Homo sapiens_hsa000300.37913299
112Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32062951
113Glycerophospholipid metabolism_Homo sapiens_hsa005640.30879993
114Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.29165334
115Protein export_Homo sapiens_hsa030600.29058621
116Oxidative phosphorylation_Homo sapiens_hsa001900.27884782
117Ras signaling pathway_Homo sapiens_hsa040140.25636265
118Sphingolipid metabolism_Homo sapiens_hsa006000.22528718
119Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.21155747
120Arachidonic acid metabolism_Homo sapiens_hsa005900.21061986
121One carbon pool by folate_Homo sapiens_hsa006700.20348374
122Ovarian steroidogenesis_Homo sapiens_hsa049130.10424095
123Parkinsons disease_Homo sapiens_hsa050120.07993548
124Alzheimers disease_Homo sapiens_hsa050100.07085788
125Axon guidance_Homo sapiens_hsa043600.03326717
126Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.00655693
127Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923-0.1981832
128Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512-0.1978420
129Galactose metabolism_Homo sapiens_hsa00052-0.1910271
130Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1837151
131Regulation of autophagy_Homo sapiens_hsa04140-0.1815554
132Amoebiasis_Homo sapiens_hsa05146-0.1669974
133Renal cell carcinoma_Homo sapiens_hsa05211-0.1566499
134Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1554588
135AMPK signaling pathway_Homo sapiens_hsa04152-0.1515562
136Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1482046
137Insulin resistance_Homo sapiens_hsa04931-0.1308059
138Lysosome_Homo sapiens_hsa04142-0.1307706
139Fructose and mannose metabolism_Homo sapiens_hsa00051-0.1182635
140Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514-0.0982640
141Tight junction_Homo sapiens_hsa04530-0.0924096
142Mineral absorption_Homo sapiens_hsa04978-0.0164409
143Adipocytokine signaling pathway_Homo sapiens_hsa04920-0.0102527

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