L2HGDH

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: This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)6.41768291
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.26623355
3L-phenylalanine catabolic process (GO:0006559)6.26623355
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.16570709
5L-phenylalanine metabolic process (GO:0006558)6.16570709
6serine family amino acid catabolic process (GO:0009071)6.05758791
7cysteine metabolic process (GO:0006534)5.76365718
8aromatic amino acid family catabolic process (GO:0009074)5.75881919
9glycine metabolic process (GO:0006544)5.64264190
10lysine metabolic process (GO:0006553)5.48143101
11lysine catabolic process (GO:0006554)5.48143101
12glyoxylate metabolic process (GO:0046487)5.43544896
13indole-containing compound catabolic process (GO:0042436)5.34809376
14indolalkylamine catabolic process (GO:0046218)5.34809376
15tryptophan catabolic process (GO:0006569)5.34809376
16kynurenine metabolic process (GO:0070189)5.28191736
17serine family amino acid metabolic process (GO:0009069)5.23763753
18tryptophan metabolic process (GO:0006568)5.09676723
19serine family amino acid biosynthetic process (GO:0009070)5.02749759
20homocysteine metabolic process (GO:0050667)4.96483434
21sulfur amino acid catabolic process (GO:0000098)4.82576599
22amino-acid betaine metabolic process (GO:0006577)4.81719461
23triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.68194986
24bile acid biosynthetic process (GO:0006699)4.66487740
25urate metabolic process (GO:0046415)4.58872264
26urea metabolic process (GO:0019627)4.57840597
27urea cycle (GO:0000050)4.57840597
28aromatic amino acid family metabolic process (GO:0009072)4.51011567
29alpha-amino acid catabolic process (GO:1901606)4.50442631
30alpha-linolenic acid metabolic process (GO:0036109)4.34841151
31fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.34735672
32folic acid metabolic process (GO:0046655)4.29058039
33nitrogen cycle metabolic process (GO:0071941)4.24980106
34cellular amino acid catabolic process (GO:0009063)4.23175018
35L-fucose catabolic process (GO:0042355)4.17430901
36fucose catabolic process (GO:0019317)4.17430901
37L-fucose metabolic process (GO:0042354)4.17430901
38bile acid metabolic process (GO:0008206)4.07874382
39regulation of posttranscriptional gene silencing (GO:0060147)4.06195699
40regulation of gene silencing by miRNA (GO:0060964)4.06195699
41regulation of gene silencing by RNA (GO:0060966)4.06195699
42negative regulation of fibrinolysis (GO:0051918)4.03763694
43regulation of protein activation cascade (GO:2000257)4.01034054
44drug catabolic process (GO:0042737)4.00047950
45cellular ketone body metabolic process (GO:0046950)3.99825477
46detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.90599439
47aspartate family amino acid catabolic process (GO:0009068)3.90591005
48L-serine metabolic process (GO:0006563)3.88847326
49glutamate metabolic process (GO:0006536)3.86205661
50biotin metabolic process (GO:0006768)3.85769018
51cellular modified amino acid catabolic process (GO:0042219)3.84264419
52protein carboxylation (GO:0018214)3.83844515
53peptidyl-glutamic acid carboxylation (GO:0017187)3.83844515
54high-density lipoprotein particle remodeling (GO:0034375)3.83598333
55short-chain fatty acid metabolic process (GO:0046459)3.80813390
56drug transmembrane transport (GO:0006855)3.79643171
57tyrosine metabolic process (GO:0006570)3.78569287
58regulation of fibrinolysis (GO:0051917)3.78424156
59pantothenate metabolic process (GO:0015939)3.77406792
60purine nucleobase biosynthetic process (GO:0009113)3.77030272
61regulation of complement activation (GO:0030449)3.76308012
62indolalkylamine metabolic process (GO:0006586)3.74779192
63regulation of bile acid biosynthetic process (GO:0070857)3.74537157
64acetyl-CoA metabolic process (GO:0006084)3.74390703
65response to pheromone (GO:0019236)3.74358102
66complement activation, alternative pathway (GO:0006957)3.71915433
67* 2-oxoglutarate metabolic process (GO:0006103)3.70984536
68regulation of triglyceride catabolic process (GO:0010896)3.69417915
69imidazole-containing compound metabolic process (GO:0052803)3.66342008
70organic acid catabolic process (GO:0016054)3.65978700
71carboxylic acid catabolic process (GO:0046395)3.65978700
72cellular glucuronidation (GO:0052695)3.63444839
73regulation of hippo signaling (GO:0035330)3.63410196
74cellular biogenic amine catabolic process (GO:0042402)3.62664777
75amine catabolic process (GO:0009310)3.62664777
76acylglycerol homeostasis (GO:0055090)3.62093242
77triglyceride homeostasis (GO:0070328)3.62093242
78carnitine metabolic process (GO:0009437)3.61388455
79negative regulation of cholesterol transport (GO:0032375)3.61162815
80negative regulation of sterol transport (GO:0032372)3.61162815
81indole-containing compound metabolic process (GO:0042430)3.60787881
82coenzyme catabolic process (GO:0009109)3.59415165
83exogenous drug catabolic process (GO:0042738)3.58643750
84one-carbon metabolic process (GO:0006730)3.56760835
85bile acid and bile salt transport (GO:0015721)3.55785428
86dicarboxylic acid biosynthetic process (GO:0043650)3.55307071
87benzene-containing compound metabolic process (GO:0042537)3.51796290
88valine metabolic process (GO:0006573)3.51119352
89ethanol oxidation (GO:0006069)3.49313486
90branched-chain amino acid catabolic process (GO:0009083)3.46899594
91fatty acid beta-oxidation (GO:0006635)3.45991965
92sulfur amino acid metabolic process (GO:0000096)3.45753221
93cilium or flagellum-dependent cell motility (GO:0001539)3.45136686
94ketone body metabolic process (GO:1902224)3.43664996
95negative regulation of fatty acid biosynthetic process (GO:0045717)3.43407065
96sulfation (GO:0051923)3.42212025
97regulation of cholesterol homeostasis (GO:2000188)3.42022437
98negative regulation of translation, ncRNA-mediated (GO:0040033)3.41662096
99regulation of translation, ncRNA-mediated (GO:0045974)3.41662096
100negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.41662096
101fatty acid oxidation (GO:0019395)3.39475943
102vitamin transmembrane transport (GO:0035461)3.38563788
103neural tube formation (GO:0001841)3.37367083
104drug transport (GO:0015893)3.32806186
105branched-chain amino acid metabolic process (GO:0009081)3.32577364
106lipid oxidation (GO:0034440)3.31449318
107nucleobase biosynthetic process (GO:0046112)3.30046314
108plasma lipoprotein particle remodeling (GO:0034369)3.29576021
109protein-lipid complex remodeling (GO:0034368)3.29576021
110macromolecular complex remodeling (GO:0034367)3.29576021
111fructose metabolic process (GO:0006000)3.29477911
112reverse cholesterol transport (GO:0043691)3.28277146
113gamma-aminobutyric acid transport (GO:0015812)3.27225813
114drug metabolic process (GO:0017144)3.25355286
115nephron epithelium morphogenesis (GO:0072088)3.22876574
116nephron tubule morphogenesis (GO:0072078)3.22876574
117regulation of cholesterol esterification (GO:0010872)3.22739658
118epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.22219519
119fatty acid catabolic process (GO:0009062)3.21842285
120kidney morphogenesis (GO:0060993)3.21829059
121* dicarboxylic acid metabolic process (GO:0043648)3.21694699
122monocarboxylic acid catabolic process (GO:0072329)3.20334875
123NAD biosynthetic process (GO:0009435)3.17478669
124neuronal action potential (GO:0019228)3.16652625
125negative regulation of telomere maintenance (GO:0032205)3.14569706
126primary amino compound metabolic process (GO:1901160)3.14170662
127serotonin metabolic process (GO:0042428)3.09051939
128reflex (GO:0060004)3.04187436
129positive regulation of sodium ion transmembrane transporter activity (GO:2000651)3.03925477
130protein import into peroxisome matrix (GO:0016558)2.98015917
131rRNA catabolic process (GO:0016075)2.94341126
132nonmotile primary cilium assembly (GO:0035058)2.92631000
133positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.92244127
134cornea development in camera-type eye (GO:0061303)2.90340750
135protein K11-linked deubiquitination (GO:0035871)2.83413426
136hindbrain development (GO:0030902)2.82971247
137interkinetic nuclear migration (GO:0022027)2.80634457
138cell morphogenesis involved in neuron differentiation (GO:0048667)2.80205518
139negative regulation of synaptic transmission, GABAergic (GO:0032229)2.77008614
140spinal cord motor neuron differentiation (GO:0021522)2.76058238
141positive regulation of sodium ion transmembrane transport (GO:1902307)2.74620315
142regulation of mesoderm development (GO:2000380)2.71861199
143membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.71628703
144behavioral response to ethanol (GO:0048149)2.70446349
145mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.69092626
146mitochondrial respiratory chain complex I assembly (GO:0032981)2.69092626
147NADH dehydrogenase complex assembly (GO:0010257)2.69092626
148detection of light stimulus involved in sensory perception (GO:0050962)2.68895927
149detection of light stimulus involved in visual perception (GO:0050908)2.68895927
150protein K48-linked deubiquitination (GO:0071108)2.68207853
151transmission of nerve impulse (GO:0019226)2.67360155
152axon ensheathment in central nervous system (GO:0032291)2.64594540
153central nervous system myelination (GO:0022010)2.64594540
154auditory receptor cell stereocilium organization (GO:0060088)2.64587488
155membrane depolarization during action potential (GO:0086010)2.63921437
156positive regulation of oligodendrocyte differentiation (GO:0048714)2.63890978
157inner ear receptor stereocilium organization (GO:0060122)2.63833310
158oxidative demethylation (GO:0070989)2.61970205
159histone-serine phosphorylation (GO:0035404)2.60962778
160epithelial cilium movement (GO:0003351)2.59066727
161cilium organization (GO:0044782)2.58237001
162synaptic transmission, cholinergic (GO:0007271)2.57949396
163regulation of action potential (GO:0098900)2.56976642
164somite development (GO:0061053)2.55542418
165urinary tract smooth muscle contraction (GO:0014848)2.53956464
166rhodopsin mediated signaling pathway (GO:0016056)2.52025092
167reciprocal DNA recombination (GO:0035825)2.51608284
168reciprocal meiotic recombination (GO:0007131)2.51608284
169peristalsis (GO:0030432)2.51068462
170negative regulation of reactive oxygen species metabolic process (GO:2000378)2.50459338
171regulation of rhodopsin mediated signaling pathway (GO:0022400)2.50068444
172positive regulation of fatty acid oxidation (GO:0046321)2.50007429
173cilium assembly (GO:0042384)2.49900869
174piRNA metabolic process (GO:0034587)2.48787290
175phosphatidylinositol acyl-chain remodeling (GO:0036149)2.46975102
176cilium movement (GO:0003341)2.45549089
177action potential (GO:0001508)2.44912384
178positive regulation of fatty acid beta-oxidation (GO:0032000)2.44611543
179membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.44363082
180cardiovascular system development (GO:0072358)2.41282812
181cilium morphogenesis (GO:0060271)2.40615779
182negative regulation of mast cell activation (GO:0033004)2.39877060
183G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.39667280
184multicellular organism reproduction (GO:0032504)2.39592135
185neuronal stem cell maintenance (GO:0097150)2.38847774
186cAMP catabolic process (GO:0006198)2.38454093
187positive regulation of CREB transcription factor activity (GO:0032793)2.37908061

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse8.45039548
2RXR_22158963_ChIP-Seq_LIVER_Mouse5.91435927
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.22129575
4EGR1_23403033_ChIP-Seq_LIVER_Mouse4.53717084
5LXR_22158963_ChIP-Seq_LIVER_Mouse4.28715160
6ZNF274_21170338_ChIP-Seq_K562_Hela4.19816609
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.10109881
8EZH2_22144423_ChIP-Seq_EOC_Human3.78380228
9CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.75851345
10E2F7_22180533_ChIP-Seq_HELA_Human3.54491234
11GBX2_23144817_ChIP-Seq_PC3_Human3.46816520
12FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.39288311
13VDR_22108803_ChIP-Seq_LS180_Human3.36812180
14E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.27396643
15CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.24593392
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.01186380
17MYC_18555785_ChIP-Seq_MESCs_Mouse2.72827322
18GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.64734091
19ZFP57_27257070_Chip-Seq_ESCs_Mouse2.52747614
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.52358425
21AR_21909140_ChIP-Seq_LNCAP_Human2.45060543
22CTBP2_25329375_ChIP-Seq_LNCAP_Human2.39919993
23EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.35908234
24TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.27841515
25KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.22694302
26CTBP1_25329375_ChIP-Seq_LNCAP_Human2.18560158
27HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.15265012
28POU3F2_20337985_ChIP-ChIP_501MEL_Human2.10424992
29TAF15_26573619_Chip-Seq_HEK293_Human2.07851211
30EWS_26573619_Chip-Seq_HEK293_Human2.05441731
31FUS_26573619_Chip-Seq_HEK293_Human2.03415360
32RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.02691077
33ER_23166858_ChIP-Seq_MCF-7_Human2.00990122
34CREB1_15753290_ChIP-ChIP_HEK293T_Human1.99648271
35AR_21572438_ChIP-Seq_LNCaP_Human1.94289816
36FOXM1_23109430_ChIP-Seq_U2OS_Human1.93780862
37JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.93147445
38P300_19829295_ChIP-Seq_ESCs_Human1.92026421
39MYC_18358816_ChIP-ChIP_MESCs_Mouse1.91463995
40ZNF263_19887448_ChIP-Seq_K562_Human1.89561086
41IGF1R_20145208_ChIP-Seq_DFB_Human1.85609670
42FLI1_27457419_Chip-Seq_LIVER_Mouse1.84644492
43STAT3_1855785_ChIP-Seq_MESCs_Mouse1.77672929
44MYC_19030024_ChIP-ChIP_MESCs_Mouse1.76582156
45PIAS1_25552417_ChIP-Seq_VCAP_Human1.74397581
46SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.74240712
47MYC_19079543_ChIP-ChIP_MESCs_Mouse1.73514224
48CBX2_27304074_Chip-Seq_ESCs_Mouse1.71876405
49EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.70781952
50AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.70427538
51CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.70222571
52STAT3_23295773_ChIP-Seq_U87_Human1.70039432
53ETS1_20019798_ChIP-Seq_JURKAT_Human1.69011456
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.67102356
55REST_21632747_ChIP-Seq_MESCs_Mouse1.61222537
56TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.59330103
57POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.59330103
58UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.58083787
59BMI1_23680149_ChIP-Seq_NPCS_Mouse1.57637368
60MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.57012780
61MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.53603673
62AR_25329375_ChIP-Seq_VCAP_Human1.52632380
63TCF4_23295773_ChIP-Seq_U87_Human1.50291176
64IRF1_19129219_ChIP-ChIP_H3396_Human1.49683748
65FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.49005584
66PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.48638570
67SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.47184938
68* NELFA_20434984_ChIP-Seq_ESCs_Mouse1.46588491
69E2F1_18555785_ChIP-Seq_MESCs_Mouse1.46468053
70NR3C1_21868756_ChIP-Seq_MCF10A_Human1.44907465
71E2F4_17652178_ChIP-ChIP_JURKAT_Human1.44904866
72DROSHA_22980978_ChIP-Seq_HELA_Human1.44485490
73ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.44276828
74* SMAD4_21799915_ChIP-Seq_A2780_Human1.44190302
75PCGF2_27294783_Chip-Seq_ESCs_Mouse1.43011979
76CLOCK_20551151_ChIP-Seq_293T_Human1.42760228
77POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.42463642
78NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.41955040
79MYCN_18555785_ChIP-Seq_MESCs_Mouse1.41303144
80BCAT_22108803_ChIP-Seq_LS180_Human1.39494634
81EST1_17652178_ChIP-ChIP_JURKAT_Human1.38660725
82GABP_17652178_ChIP-ChIP_JURKAT_Human1.37482026
83MYC_18940864_ChIP-ChIP_HL60_Human1.34651466
84PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.34606815
85POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.33949540
86NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.33774669
87MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.32588936
88TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.32056777
89NANOG_18555785_ChIP-Seq_MESCs_Mouse1.31500660
90SMAD3_21741376_ChIP-Seq_EPCs_Human1.31115675
91TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29631025
92TP53_22573176_ChIP-Seq_HFKS_Human1.28476354
93TP53_16413492_ChIP-PET_HCT116_Human1.28326981
94RUNX2_22187159_ChIP-Seq_PCA_Human1.28170526
95EED_16625203_ChIP-ChIP_MESCs_Mouse1.27379824
96ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.25357483
97FOXA1_25329375_ChIP-Seq_VCAP_Human1.25149042
98FOXA1_27270436_Chip-Seq_PROSTATE_Human1.25149042
99CBP_20019798_ChIP-Seq_JUKART_Human1.25090770
100IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25090770
101RNF2_27304074_Chip-Seq_NSC_Mouse1.24521483
102NOTCH1_21737748_ChIP-Seq_TLL_Human1.23565175
103HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.22457193
104TCF4_22108803_ChIP-Seq_LS180_Human1.22144664
105NANOG_19829295_ChIP-Seq_ESCs_Human1.21937622
106SOX2_19829295_ChIP-Seq_ESCs_Human1.21937622
107GABP_19822575_ChIP-Seq_HepG2_Human1.21470405
108SMAD4_21741376_ChIP-Seq_EPCs_Human1.20605765
109GATA1_22025678_ChIP-Seq_K562_Human1.20172257
110ZFX_18555785_ChIP-Seq_MESCs_Mouse1.20043986
111EZH2_27304074_Chip-Seq_ESCs_Mouse1.19746639
112FLI1_21867929_ChIP-Seq_TH2_Mouse1.19721605
113GATA3_21878914_ChIP-Seq_MCF-7_Human1.19538886
114JARID2_20064375_ChIP-Seq_MESCs_Mouse1.16616372
115* HNF4A_19822575_ChIP-Seq_HepG2_Human1.16413685
116KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.15464062
117PRDM14_20953172_ChIP-Seq_ESCs_Human1.15185823
118SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.15127007
119ESR1_15608294_ChIP-ChIP_MCF-7_Human1.15094437
120FOXA1_21572438_ChIP-Seq_LNCaP_Human1.14405311
121XRN2_22483619_ChIP-Seq_HELA_Human1.14156039
122MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.12968738
123* KDM5A_27292631_Chip-Seq_BREAST_Human1.12342646
124DCP1A_22483619_ChIP-Seq_HELA_Human1.12324593
125PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.12028268
126STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.11229527
127KLF5_20875108_ChIP-Seq_MESCs_Mouse1.10962786
128SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10350870
129ARNT_22903824_ChIP-Seq_MCF-7_Human1.10097723
130NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.09786120
131EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.09710457
132SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.09496711
133CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.09464089
134OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09193642
135HOXB7_26014856_ChIP-Seq_BT474_Human1.08537472
136PCGF2_27294783_Chip-Seq_NPCs_Mouse1.08083157
137FOXP3_21729870_ChIP-Seq_TREG_Human1.05225294
138VDR_23849224_ChIP-Seq_CD4+_Human1.05216237
139* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.03955923
140EZH2_27294783_Chip-Seq_ESCs_Mouse1.03392580
141SUZ12_27294783_Chip-Seq_NPCs_Mouse1.03043722
142BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.02937746
143RXRA_24833708_ChIP-Seq_LIVER_Mouse1.02900386
144SRF_21415370_ChIP-Seq_HL-1_Mouse1.02796668
145AR_20517297_ChIP-Seq_VCAP_Human1.02394403
146SOX2_21211035_ChIP-Seq_LN229_Gbm1.02071429
147EZH2_27294783_Chip-Seq_NPCs_Mouse1.01972928
148NFE2_27457419_Chip-Seq_LIVER_Mouse1.01526266
149JARID2_20075857_ChIP-Seq_MESCs_Mouse1.00901829
150AHR_22903824_ChIP-Seq_MCF-7_Human1.00240608
151E2F1_21310950_ChIP-Seq_MCF-7_Human0.99752999
152PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.99562746
153* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.99417123
154CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.99112130
155GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.99052733
156* KAP1_22055183_ChIP-Seq_ESCs_Mouse0.98136832
157SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.98059036
158TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97093389
159TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.96932818
160NCOR_22424771_ChIP-Seq_293T_Human0.96932181
161SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.96744349
162TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.96492359
163KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.96079360
164RBPJ_22232070_ChIP-Seq_NCS_Mouse0.90279676
165TCF3_18692474_ChIP-Seq_MEFs_Mouse0.88736290
166SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.87942897
167PADI4_21655091_ChIP-ChIP_MCF-7_Human0.87771559
168YY1_21170310_ChIP-Seq_MESCs_Mouse0.85019493
169FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.84969511
170ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.82933416
171* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.82531265
172HTT_18923047_ChIP-ChIP_STHdh_Human0.81719669
173HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.81247308
174* FOXA2_19822575_ChIP-Seq_HepG2_Human0.81114241
175SALL1_21062744_ChIP-ChIP_HESCs_Human0.80625175
176* RARA_24833708_ChIP-Seq_LIVER_Mouse0.79794289
177POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.79752577
178SOX2_18692474_ChIP-Seq_MEFs_Mouse0.78320141
179* GATA4_25053715_ChIP-Seq_YYC3_Human0.78109241
180MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.77118162
181SALL4_18804426_ChIP-ChIP_XEN_Mouse0.75321373
182YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.75161838
183OCT4_18692474_ChIP-Seq_MEFs_Mouse0.73554780
184AUTS2_25519132_ChIP-Seq_293T-REX_Human0.73166162
185FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.72446099
186NANOG_21062744_ChIP-ChIP_HESCs_Human0.71566730
187SOX2_27498859_Chip-Seq_STOMACH_Mouse0.70282252
188ATF3_27146783_Chip-Seq_COLON_Human0.69434372
189NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.68048672
190TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.67526449
191* RARB_24833708_ChIP-Seq_LIVER_Mouse0.67485461
192GATA6_25053715_ChIP-Seq_YYC3_Human0.67328102
193NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.67180142
194DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.65676630
195THAP11_20581084_ChIP-Seq_MESCs_Mouse0.64988370
196SOX17_20123909_ChIP-Seq_XEN_Mouse0.64159894
197* POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.64079449
198TCF3_18692474_ChIP-Seq_MESCs_Mouse0.63356643

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.46330659
2MP0005360_urolithiasis7.05411823
3MP0005085_abnormal_gallbladder_physiolo5.67048647
4MP0005365_abnormal_bile_salt5.62614318
5MP0003806_abnormal_nucleotide_metabolis4.51131572
6MP0008875_abnormal_xenobiotic_pharmacok4.39648827
7MP0003136_yellow_coat_color3.35175138
8MP0003252_abnormal_bile_duct3.30120039
9MP0005332_abnormal_amino_acid3.19284502
10MP0009840_abnormal_foam_cell3.04273350
11MP0010329_abnormal_lipoprotein_level2.95406927
12MP0000569_abnormal_digit_pigmentation2.93440567
13MP0004019_abnormal_vitamin_homeostasis2.53022281
14MP0009046_muscle_twitch2.45869942
15MP0001485_abnormal_pinna_reflex2.42226445
16MP0002653_abnormal_ependyma_morphology2.37549379
17MP0003195_calcinosis2.36284158
18MP0005551_abnormal_eye_electrophysiolog2.26798615
19MP0001666_abnormal_nutrient_absorption2.26294229
20MP0005083_abnormal_biliary_tract2.17198972
21MP0002102_abnormal_ear_morphology2.15000256
22MP0008877_abnormal_DNA_methylation2.11383493
23MP0009745_abnormal_behavioral_response2.06068845
24MP0001968_abnormal_touch/_nociception2.04233108
25MP0000609_abnormal_liver_physiology1.98204882
26MP0002736_abnormal_nociception_after1.90629632
27MP0008872_abnormal_physiological_respon1.89705992
28MP0005319_abnormal_enzyme/_coenzyme1.87433824
29MP0004133_heterotaxia1.87062441
30MP0001764_abnormal_homeostasis1.84582757
31MP0004142_abnormal_muscle_tone1.84259792
32MP0002735_abnormal_chemical_nociception1.83337411
33MP0001501_abnormal_sleep_pattern1.82641979
34MP0000427_abnormal_hair_cycle1.79009387
35MP0002118_abnormal_lipid_homeostasis1.78852750
36MP0004742_abnormal_vestibular_system1.77104429
37MP0000383_abnormal_hair_follicle1.77099538
38MP0003693_abnormal_embryo_hatching1.76133105
39MP0002938_white_spotting1.73362512
40MP0004145_abnormal_muscle_electrophysio1.72634374
41MP0002138_abnormal_hepatobiliary_system1.72214585
42MP0004885_abnormal_endolymph1.68840019
43MP0003868_abnormal_feces_composition1.64583653
44MP0009643_abnormal_urine_homeostasis1.62166350
45MP0002638_abnormal_pupillary_reflex1.61397701
46MP0002064_seizures1.59753240
47MP0006036_abnormal_mitochondrial_physio1.59318819
48MP0002272_abnormal_nervous_system1.58568930
49MP0005451_abnormal_body_composition1.56530705
50MP0006072_abnormal_retinal_apoptosis1.55818141
51MP0003718_maternal_effect1.55182575
52MP0003191_abnormal_cellular_cholesterol1.52395649
53MP0000631_abnormal_neuroendocrine_gland1.51807218
54MP0005253_abnormal_eye_physiology1.51442861
55MP0001486_abnormal_startle_reflex1.50979021
56MP0003186_abnormal_redox_activity1.48252843
57MP0006292_abnormal_olfactory_placode1.46191533
58MP0002572_abnormal_emotion/affect_behav1.43769786
59MP0003890_abnormal_embryonic-extraembry1.41699725
60MP0002067_abnormal_sensory_capabilities1.41635953
61MP0005386_behavior/neurological_phenoty1.38486021
62MP0004924_abnormal_behavior1.38486021
63MP0002733_abnormal_thermal_nociception1.34110628
64MP0002557_abnormal_social/conspecific_i1.30727878
65MP0002160_abnormal_reproductive_system1.30010377
66MP0005646_abnormal_pituitary_gland1.28480782
67MP0005645_abnormal_hypothalamus_physiol1.28422675
68MP0003283_abnormal_digestive_organ1.28367904
69MP0001970_abnormal_pain_threshold1.27515051
70MP0009697_abnormal_copulation1.25874839
71MP0005584_abnormal_enzyme/coenzyme_acti1.25215574
72MP0002063_abnormal_learning/memory/cond1.24885595
73MP0003137_abnormal_impulse_conducting1.22744152
74MP0003705_abnormal_hypodermis_morpholog1.21489644
75MP0006276_abnormal_autonomic_nervous1.21367522
76MP0001661_extended_life_span1.20860173
77MP0003656_abnormal_erythrocyte_physiolo1.20532368
78MP0005636_abnormal_mineral_homeostasis1.19870566
79MP0001986_abnormal_taste_sensitivity1.19784298
80MP0000598_abnormal_liver_morphology1.19102045
81MP0010386_abnormal_urinary_bladder1.17200266
82MP0000026_abnormal_inner_ear1.16917659
83MP0004215_abnormal_myocardial_fiber1.16893875
84MP0003111_abnormal_nucleus_morphology1.15289789
85MP0004043_abnormal_pH_regulation1.14510259
86MP0003119_abnormal_digestive_system1.13207044
87MP0003635_abnormal_synaptic_transmissio1.13095500
88MP0004957_abnormal_blastocyst_morpholog1.12774025
89MP0006035_abnormal_mitochondrial_morpho1.11297514
90MP0005670_abnormal_white_adipose1.08629458
91MP0005195_abnormal_posterior_eye1.08357928
92MP0001756_abnormal_urination1.07873336
93MP0002928_abnormal_bile_duct1.05938339
94MP0005389_reproductive_system_phenotype1.05912254
95MP0008961_abnormal_basal_metabolism1.04418801
96MP0003937_abnormal_limbs/digits/tail_de1.03743529
97MP0001919_abnormal_reproductive_system1.01354498
98MP0000230_abnormal_systemic_arterial1.00455536
99MP0005220_abnormal_exocrine_pancreas0.99342605
100MP0005174_abnormal_tail_pigmentation0.98492418
101MP0009672_abnormal_birth_weight0.96933234
102MP0002734_abnormal_mechanical_nocicepti0.96421728
103MP0005666_abnormal_adipose_tissue0.96229713
104MP0000778_abnormal_nervous_system0.95838529
105MP0005647_abnormal_sex_gland0.94488755
106MP0005266_abnormal_metabolism0.92278676
107MP0003646_muscle_fatigue0.92036031
108MP0001963_abnormal_hearing_physiology0.90257422
109MP0002277_abnormal_respiratory_mucosa0.90154069
110MP0005448_abnormal_energy_balance0.89270399
111MP0002752_abnormal_somatic_nervous0.89208955
112MP0000647_abnormal_sebaceous_gland0.88953262
113MP0000538_abnormal_urinary_bladder0.88416460
114MP0002234_abnormal_pharynx_morphology0.87938718
115MP0002269_muscular_atrophy0.87127658
116MP0010094_abnormal_chromosome_stability0.86152938
117MP0001730_embryonic_growth_arrest0.85137612
118MP0005187_abnormal_penis_morphology0.84926540
119MP0009053_abnormal_anal_canal0.84548835
120MP0002229_neurodegeneration0.84032758
121MP0003698_abnormal_male_reproductive0.82573748
122MP0000372_irregular_coat_pigmentation0.82362398
123MP0003880_abnormal_central_pattern0.82276059
124MP0003638_abnormal_response/metabolism_0.81021368
125MP0001529_abnormal_vocalization0.80929127
126MP0000470_abnormal_stomach_morphology0.80602165
127MP0003221_abnormal_cardiomyocyte_apopto0.79702129
128MP0005376_homeostasis/metabolism_phenot0.79518495
129MP0005395_other_phenotype0.78097880
130MP0003077_abnormal_cell_cycle0.77195895
131MP0004264_abnormal_extraembryonic_tissu0.75723503
132MP0008057_abnormal_DNA_replication0.74924920
133MP0005084_abnormal_gallbladder_morpholo0.74708406
134MP0005167_abnormal_blood-brain_barrier0.74504840
135MP0002882_abnormal_neuron_morphology0.74203735
136MP0002210_abnormal_sex_determination0.74017346
137MP0003959_abnormal_lean_body0.73794194
138MP0001664_abnormal_digestion0.73083486
139MP0004130_abnormal_muscle_cell0.72236546
140MP0002971_abnormal_brown_adipose0.72144138
141MP0002078_abnormal_glucose_homeostasis0.71986341
142MP0009642_abnormal_blood_homeostasis0.71908651
143MP0001293_anophthalmia0.71291313
144MP0010030_abnormal_orbit_morphology0.70904019
145MP0002136_abnormal_kidney_physiology0.70169027
146MP0001672_abnormal_embryogenesis/_devel0.68597513
147MP0005380_embryogenesis_phenotype0.68597513
148MP0002837_dystrophic_cardiac_calcinosis0.68049525
149MP0000747_muscle_weakness0.66301378
150MP0002088_abnormal_embryonic_growth/wei0.64195205
151MP0003984_embryonic_growth_retardation0.63460561
152MP0009763_increased_sensitivity_to0.60351818
153MP0005330_cardiomyopathy0.59551309
154MP0008260_abnormal_autophagy0.59291725
155MP0005334_abnormal_fat_pad0.58990637
156MP0003011_delayed_dark_adaptation0.57569371
157MP0003878_abnormal_ear_physiology0.57044468
158MP0005377_hearing/vestibular/ear_phenot0.57044468
159MP0004185_abnormal_adipocyte_glucose0.53830356
160MP0003567_abnormal_fetal_cardiomyocyte0.53523390
161MP0008469_abnormal_protein_level0.52071948
162MP0005408_hypopigmentation0.51883411
163MP0002086_abnormal_extraembryonic_tissu0.49981952
164MP0003123_paternal_imprinting0.48750272
165MP0001697_abnormal_embryo_size0.47224537
166MP0002080_prenatal_lethality0.47055125
167MP0000358_abnormal_cell_content/0.46133313
168MP0004147_increased_porphyrin_level0.45711647
169MP0002254_reproductive_system_inflammat0.45685539
170MP0010234_abnormal_vibrissa_follicle0.45088373
171MP0010307_abnormal_tumor_latency0.42750554
172MP0002970_abnormal_white_adipose0.42452872
173MP0001765_abnormal_ion_homeostasis0.42323897
174MP0009765_abnormal_xenobiotic_induced0.42232225
175MP0002876_abnormal_thyroid_physiology0.42151407
176MP0000750_abnormal_muscle_regeneration0.41896862
177MP0005535_abnormal_body_temperature0.41750797
178MP0008058_abnormal_DNA_repair0.41715144
179MP0003953_abnormal_hormone_level0.40668150
180MP0009703_decreased_birth_body0.40190013
181MP0009115_abnormal_fat_cell0.39240485
182MP0009764_decreased_sensitivity_to0.39120333
183MP0003699_abnormal_female_reproductive0.38844682

Predicted human phenotypes

RankGene SetZ-score
1Hyperglycinemia (HP:0002154)6.40165278
2Hyperglycinuria (HP:0003108)6.14704598
3Abnormality of aromatic amino acid family metabolism (HP:0004338)6.08884730
4Intrahepatic cholestasis (HP:0001406)5.75216953
5Birth length less than 3rd percentile (HP:0003561)5.63603932
6Abnormality of glycine metabolism (HP:0010895)5.63223296
7Abnormality of serine family amino acid metabolism (HP:0010894)5.63223296
8Abnormality of monocarboxylic acid metabolism (HP:0010996)5.51019579
9Hypobetalipoproteinemia (HP:0003563)5.30323860
10Deep venous thrombosis (HP:0002625)5.14195041
11Xanthomatosis (HP:0000991)5.01835312
12Gout (HP:0001997)5.00378956
13Hyperammonemia (HP:0001987)4.78828709
14Prolonged partial thromboplastin time (HP:0003645)4.46099646
15Pancreatic cysts (HP:0001737)4.35684249
16Abnormality of serum amino acid levels (HP:0003112)4.33385993
17Ketosis (HP:0001946)4.31452475
18Abnormality of sulfur amino acid metabolism (HP:0004339)4.20620859
19Hyperventilation (HP:0002883)4.20615515
20Molar tooth sign on MRI (HP:0002419)4.18474828
21Abnormality of midbrain morphology (HP:0002418)4.18474828
22Hyperlipoproteinemia (HP:0010980)4.15732944
23Abnormality of glutamine family amino acid metabolism (HP:0010902)4.05026836
24Hypolipoproteinemia (HP:0010981)4.04320561
25Abnormality of aspartate family amino acid metabolism (HP:0010899)3.97854029
26True hermaphroditism (HP:0010459)3.96374845
27Pancreatic fibrosis (HP:0100732)3.94681880
28Hypoglycemic coma (HP:0001325)3.90776079
29Abnormality of fatty-acid metabolism (HP:0004359)3.80647308
30Congenital stationary night blindness (HP:0007642)3.68265551
31Abnormality of pyrimidine metabolism (HP:0004353)3.62545814
32Abnormality of nucleobase metabolism (HP:0010932)3.59378603
33Abnormality of methionine metabolism (HP:0010901)3.58370923
34Abnormality of purine metabolism (HP:0004352)3.57794998
35Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.54551162
36Dicarboxylic aciduria (HP:0003215)3.54102938
37Abnormality of dicarboxylic acid metabolism (HP:0010995)3.54102938
38Nephronophthisis (HP:0000090)3.51169260
39Hypoalphalipoproteinemia (HP:0003233)3.49593277
40Genetic anticipation (HP:0003743)3.43551534
41Complement deficiency (HP:0004431)3.38543517
42Patellar aplasia (HP:0006443)3.37349326
43Hyperuricemia (HP:0002149)3.37118126
44Increased purine levels (HP:0004368)3.37118126
45Fat malabsorption (HP:0002630)3.32975454
46Lethargy (HP:0001254)3.31885352
47Ketoacidosis (HP:0001993)3.30713793
48Protruding tongue (HP:0010808)3.29619427
49Epidermoid cyst (HP:0200040)3.29580528
50Breast hypoplasia (HP:0003187)3.26482102
51Type II lissencephaly (HP:0007260)3.21889957
52Inability to walk (HP:0002540)3.19759938
53Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.18393476
54Aplasia/Hypoplasia of the patella (HP:0006498)3.17932855
55Delayed CNS myelination (HP:0002188)3.15450635
56Metabolic acidosis (HP:0001942)3.07669266
57Clumsiness (HP:0002312)3.07601948
58Generalized aminoaciduria (HP:0002909)3.04826056
59Abnormality of the intrinsic pathway (HP:0010989)3.02335658
60Abnormality of the renal medulla (HP:0100957)3.00786187
61Large for gestational age (HP:0001520)2.96707349
62Abnormality of the renal cortex (HP:0011035)2.95126931
63Abnormality of the common coagulation pathway (HP:0010990)2.93965634
64Proximal tubulopathy (HP:0000114)2.92455169
65Progressive cerebellar ataxia (HP:0002073)2.92395913
66Tubular atrophy (HP:0000092)2.92163927
67Attenuation of retinal blood vessels (HP:0007843)2.87816824
68Congenital, generalized hypertrichosis (HP:0004540)2.85672758
69Joint hemorrhage (HP:0005261)2.77692023
70Hyperbilirubinemia (HP:0002904)2.75878912
71Cystic liver disease (HP:0006706)2.73989068
72Progressive inability to walk (HP:0002505)2.71535806
73Spastic diplegia (HP:0001264)2.71112898
74Conjugated hyperbilirubinemia (HP:0002908)2.70788984
75Malnutrition (HP:0004395)2.63495172
76Dynein arm defect of respiratory motile cilia (HP:0012255)2.60013729
77Absent/shortened dynein arms (HP:0200106)2.60013729
78Concave nail (HP:0001598)2.59774882
79Cerebral edema (HP:0002181)2.55904162
80Fair hair (HP:0002286)2.53493851
81Pendular nystagmus (HP:0012043)2.51676891
82Sclerocornea (HP:0000647)2.51303890
83Hepatocellular carcinoma (HP:0001402)2.50134326
84Furrowed tongue (HP:0000221)2.50040174
85Irritability (HP:0000737)2.50016053
86Gaze-evoked nystagmus (HP:0000640)2.48548231
87Steatorrhea (HP:0002570)2.45102797
88Chronic hepatic failure (HP:0100626)2.44850917
89Nausea (HP:0002018)2.44407756
90Abolished electroretinogram (ERG) (HP:0000550)2.43510013
91Hyperglycemia (HP:0003074)2.41786207
92Lissencephaly (HP:0001339)2.41059901
93Hypercholesterolemia (HP:0003124)2.38610405
94Medial flaring of the eyebrow (HP:0010747)2.38530084
95Megaloblastic anemia (HP:0001889)2.35854893
96Aplasia/Hypoplasia of the tibia (HP:0005772)2.33574774
97Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.32175236
98Abnormal cartilage morphology (HP:0002763)2.31596659
99Partial agenesis of the corpus callosum (HP:0001338)2.31147446
100Hypoplastic labia majora (HP:0000059)2.30930193
101Abnormality of complement system (HP:0005339)2.30616288
102Prominent supraorbital ridges (HP:0000336)2.30043260
103Vomiting (HP:0002013)2.29415298
104Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.28164185
105Broad-based gait (HP:0002136)2.26196447
106Progressive muscle weakness (HP:0003323)2.26170513
107Cerebellar dysplasia (HP:0007033)2.23788034
108Abnormality of urine glucose concentration (HP:0011016)2.22440331
109Glycosuria (HP:0003076)2.22440331
110Vascular calcification (HP:0004934)2.21753200
111Hypochromic microcytic anemia (HP:0004840)2.21130478
112Keratoconus (HP:0000563)2.17733877
113Increased corneal curvature (HP:0100692)2.17733877
114Bronchomalacia (HP:0002780)2.17485666
115Methylmalonic aciduria (HP:0012120)2.17209225
116Abnormal respiratory epithelium morphology (HP:0012253)2.16311271
117Abnormal respiratory motile cilium morphology (HP:0005938)2.16311271
118Abnormality of the labia majora (HP:0012881)2.14801561
119Febrile seizures (HP:0002373)2.14463486
120Chorioretinal atrophy (HP:0000533)2.14320130
121Hypoplastic ischia (HP:0003175)2.14229361
122Abnormality of the pons (HP:0007361)2.12457333
123Decreased circulating renin level (HP:0003351)2.11871706
124Abnormal ciliary motility (HP:0012262)2.11520233
125Anencephaly (HP:0002323)2.11255645
126Aplasia/Hypoplasia of the tongue (HP:0010295)2.11153277
127Acanthocytosis (HP:0001927)2.07030249
128Multiple enchondromatosis (HP:0005701)2.06481127
129Skin nodule (HP:0200036)2.06445533
130Hypoplasia of the pons (HP:0012110)2.06429955
131Gait imbalance (HP:0002141)2.04918400
132Spontaneous abortion (HP:0005268)2.04502071
133Male pseudohermaphroditism (HP:0000037)2.03625301
134Neonatal onset (HP:0003623)2.03385479
135Abnormal number of erythroid precursors (HP:0012131)2.02197762
136Hypoglycemic seizures (HP:0002173)2.01483851
137Congenital sensorineural hearing impairment (HP:0008527)2.01414517
138Brushfield spots (HP:0001088)2.01217953
139Polydipsia (HP:0001959)2.00614718
140Abnormal drinking behavior (HP:0030082)2.00614718
141Alkalosis (HP:0001948)1.98873832
142Tetraplegia (HP:0002445)1.97612206
143Long nose (HP:0003189)1.97492086
144Rhabdomyolysis (HP:0003201)1.96085073
145Generalized hypopigmentation of hair (HP:0011358)1.95259290
146Bile duct proliferation (HP:0001408)1.95175682
147Abnormal biliary tract physiology (HP:0012439)1.95175682
148Impulsivity (HP:0100710)1.94341161
149Abnormality of the pubic bones (HP:0003172)1.93770366
150Congenital hepatic fibrosis (HP:0002612)1.93760057
151Increased neuronal autofluorescent lipopigment (HP:0002074)1.93727426
152Cardiovascular calcification (HP:0011915)1.91832692
153Congenital primary aphakia (HP:0007707)1.90469225
154Optic nerve hypoplasia (HP:0000609)1.89503408
155Myoglobinuria (HP:0002913)1.89009770
156Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.88715617
157Late onset (HP:0003584)1.88215095
158Confusion (HP:0001289)1.87389632
159Abnormality of alanine metabolism (HP:0010916)1.87310436
160Hyperalaninemia (HP:0003348)1.87310436
161Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.87310436
162Hyperinsulinemic hypoglycemia (HP:0000825)1.86910463
163Mesangial abnormality (HP:0001966)1.85755740
164Abnormal enzyme/coenzyme activity (HP:0012379)1.85505851
165Bony spicule pigmentary retinopathy (HP:0007737)1.85142754
166Myocardial infarction (HP:0001658)1.84949689
167Hydroxyprolinuria (HP:0003080)1.84525871
168Abnormality of proline metabolism (HP:0010907)1.84525871
169Absent speech (HP:0001344)1.82810729
170Bilateral microphthalmos (HP:0007633)1.82100762
171Sensorimotor neuropathy (HP:0007141)1.81814424
172Preaxial foot polydactyly (HP:0001841)1.80813040
173Atrioventricular block (HP:0001678)1.79921993
174Abnormality of the ischium (HP:0003174)1.77550557
175Abnormality of vitamin metabolism (HP:0100508)1.77550436
176Widely spaced teeth (HP:0000687)1.77340219
177Rickets (HP:0002748)1.77055047
178Genital tract atresia (HP:0001827)1.76285737
179Severe muscular hypotonia (HP:0006829)1.76231722
180Cholelithiasis (HP:0001081)1.75295212
181Small hand (HP:0200055)1.74991316
182Decreased central vision (HP:0007663)1.74843665
183Female pseudohermaphroditism (HP:0010458)1.73265259
184Renal cortical cysts (HP:0000803)1.72959211
185Limb dystonia (HP:0002451)1.72756026
186Pancreatitis (HP:0001733)1.72731225
187Poikilocytosis (HP:0004447)1.72196285
188Opisthotonus (HP:0002179)1.71857111
189Enlarged kidneys (HP:0000105)1.71722472
190Scrotal hypoplasia (HP:0000046)1.71238944
191Retinal dysplasia (HP:0007973)1.70981382
192Vaginal atresia (HP:0000148)1.70977035
193Abnormal gallbladder morphology (HP:0012437)1.70915583
194Aplasia/Hypoplasia of the uvula (HP:0010293)1.70037053
195Aplasia/Hypoplasia of the sternum (HP:0006714)1.69951684

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.38712152
2BMPR1B3.78555680
3NEK13.44023274
4WEE13.41755754
5PNCK3.34427315
6ADRBK23.11511864
7EIF2AK12.92385959
8BUB12.90238913
9PDK42.80332029
10PDK32.80332029
11STK38L2.50081522
12NEK22.42587300
13GRK12.36641769
14CASK2.35561952
15LATS12.27872623
16AKT32.14701302
17TLK11.90847518
18TTK1.87847117
19MAPK131.86258968
20NME21.85244115
21ACVR1B1.84844940
22TGFBR11.84211521
23SIK11.82875707
24PINK11.82042876
25STK161.81053893
26WNK31.79047206
27BRSK21.77856770
28PDK21.74028289
29FGFR41.70005823
30DAPK21.69958245
31CAMK1D1.69281075
32EPHA21.67455515
33CDC71.60127597
34CAMKK21.54121548
35PKN21.47702892
36TSSK61.46151431
37LATS21.38244315
38MARK11.38225520
39FLT31.36597651
40ERBB41.35048997
41STK31.33456240
42CDK41.33046880
43MAPKAPK51.31145471
44ADRBK11.28844335
45MAPK111.28735156
46CAMK1G1.27317106
47NTRK31.26453375
48PLK11.24455934
49MAP4K21.24134137
50STK391.23498391
51FRK1.22116830
52ERN11.20924322
53DYRK31.20182708
54PLK41.20071610
55NUAK11.11445228
56SRPK11.10990571
57EIF2AK31.09756828
58PIK3CA1.06200560
59PLK31.06019664
60TRIB31.05947062
61MAP2K31.05724180
62ABL21.01587305
63PRKCG1.00787846
64AURKB1.00494945
65PRKAA10.96127621
66CDK70.95969567
67MAP2K40.95729649
68TNIK0.92886646
69ZAK0.92060279
70MAP3K40.91424878
71MUSK0.90572249
72RPS6KA40.90187118
73MST1R0.87928456
74PIK3CG0.87535062
75IRAK10.87012549
76CHEK20.85284587
77MKNK10.85274242
78SCYL20.84911487
79BRSK10.83370816
80MTOR0.82785201
81MAPK150.81973764
82PHKG20.81492826
83PHKG10.81492826
84CAMKK10.81463959
85PRKAA20.79093158
86MAP3K80.79003351
87VRK10.78106631
88NME10.76099080
89RPS6KA50.75620088
90STK380.74644027
91OBSCN0.74319365
92INSRR0.73529520
93MAPKAPK30.72036484
94NTRK20.71443145
95PKN10.70957856
96PTK2B0.69570459
97CDK60.69450741
98MAP3K30.68664180
99WNK40.67353339
100NEK90.67091843
101PAK30.66449084
102CHEK10.63796746
103PRKCE0.63495513
104DYRK20.63396142
105AURKA0.62467445
106CAMK2A0.61591907
107RPS6KA60.59437678
108CCNB10.59307851
109CAMK10.58938132
110CDK120.57734467
111AKT20.56538330
112ATR0.56013716
113KDR0.55751134
114OXSR10.55734826
115TAF10.55356995
116MELK0.55301268
117MAP3K50.55035451
118TAOK20.54969235
119BRAF0.54778610
120CSNK1E0.54079177
121MAP3K70.53576155
122TYRO30.52804792
123STK110.52213361
124MKNK20.52033721
125MAP2K10.51436575
126TTN0.49718029
127TRPM70.49603461
128VRK20.48860962
129CSNK2A20.48596942
130CDK20.47631014
131CHUK0.47277677
132CAMK40.47184105
133TAOK30.43183191
134PTK60.43018809
135SIK20.42303501
136CDK30.40312398
137ATM0.39404674
138CSNK2A10.39320198
139CSNK1G10.38493812
140PRKACA0.38106560
141MAP3K110.37297825
142SGK30.36226103
143TXK0.35488434
144GSK3A0.34338779
145PRKACG0.34279260
146MAP2K70.33364138
147STK40.32633883
148PRKCZ0.32415996
149MAP2K60.30953177
150PRKCQ0.30738158
151JAK20.30596708
152GRK60.30497920
153MET0.30482954
154WNK10.30358366
155PRKCI0.29852954
156DYRK1B0.29270547
157PIM10.28710195
158CDK10.27317124
159ERBB20.27189405
160IKBKB0.25989960
161TIE10.25470522
162CSNK1D0.25342174
163PRKCA0.25282493
164CAMK2B0.24052128
165PRKG10.22954433
166PRKACB0.21385113
167CSNK1A10.20961848

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.42547270
2Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006303.15006002
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.98868631
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.98498204
5Nitrogen metabolism_Homo sapiens_hsa009102.94734096
6Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.84537394
7Phototransduction_Homo sapiens_hsa047442.79537444
8Nicotine addiction_Homo sapiens_hsa050332.75551724
9Arginine biosynthesis_Homo sapiens_hsa002202.62689198
10Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.55537885
11Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.46117813
12Fatty acid degradation_Homo sapiens_hsa000712.44998321
13Vitamin B6 metabolism_Homo sapiens_hsa007502.40771901
14Tryptophan metabolism_Homo sapiens_hsa003802.33413607
152-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.29708844
16Propanoate metabolism_Homo sapiens_hsa006402.28354570
17Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.25857346
18Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.18015303
19Ether lipid metabolism_Homo sapiens_hsa005652.14056136
20Pentose and glucuronate interconversions_Homo sapiens_hsa000402.12327828
21* Butanoate metabolism_Homo sapiens_hsa006502.08943443
22Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.07246588
23Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.02684750
24Folate biosynthesis_Homo sapiens_hsa007901.98877358
25Drug metabolism - other enzymes_Homo sapiens_hsa009831.95124572
26Peroxisome_Homo sapiens_hsa041461.91150163
27Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.85144836
28Selenocompound metabolism_Homo sapiens_hsa004501.80941772
29Cysteine and methionine metabolism_Homo sapiens_hsa002701.79707638
30Fatty acid metabolism_Homo sapiens_hsa012121.77475492
31beta-Alanine metabolism_Homo sapiens_hsa004101.73845308
32Complement and coagulation cascades_Homo sapiens_hsa046101.72846357
33Biosynthesis of amino acids_Homo sapiens_hsa012301.71693666
34Carbon metabolism_Homo sapiens_hsa012001.68345549
35Taste transduction_Homo sapiens_hsa047421.61288747
36Pyruvate metabolism_Homo sapiens_hsa006201.60323583
37Cyanoamino acid metabolism_Homo sapiens_hsa004601.59586818
38Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.56248055
39PPAR signaling pathway_Homo sapiens_hsa033201.55983001
40Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.55647560
41Morphine addiction_Homo sapiens_hsa050321.50359587
42Basal transcription factors_Homo sapiens_hsa030221.49975058
43Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.47680255
44Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.45274968
45Chemical carcinogenesis_Homo sapiens_hsa052041.44267831
46Fanconi anemia pathway_Homo sapiens_hsa034601.41958142
47One carbon pool by folate_Homo sapiens_hsa006701.41427186
48Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.41408702
49Steroid hormone biosynthesis_Homo sapiens_hsa001401.40622328
50Oxidative phosphorylation_Homo sapiens_hsa001901.39484850
51Histidine metabolism_Homo sapiens_hsa003401.33352187
52Vitamin digestion and absorption_Homo sapiens_hsa049771.32135316
53Olfactory transduction_Homo sapiens_hsa047401.31456416
54Retinol metabolism_Homo sapiens_hsa008301.31318732
55Serotonergic synapse_Homo sapiens_hsa047261.27768907
56Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.27526126
57Cardiac muscle contraction_Homo sapiens_hsa042601.27305379
58Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.25924534
59Circadian entrainment_Homo sapiens_hsa047131.22962102
60Bile secretion_Homo sapiens_hsa049761.22001273
61Caffeine metabolism_Homo sapiens_hsa002321.21987229
62Glutamatergic synapse_Homo sapiens_hsa047241.21743594
63Phenylalanine metabolism_Homo sapiens_hsa003601.21357548
64Sulfur relay system_Homo sapiens_hsa041221.20850572
65Ovarian steroidogenesis_Homo sapiens_hsa049131.20651725
66GABAergic synapse_Homo sapiens_hsa047271.19515649
67Starch and sucrose metabolism_Homo sapiens_hsa005001.19292480
68Arginine and proline metabolism_Homo sapiens_hsa003301.18212340
69Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.15875097
70Arachidonic acid metabolism_Homo sapiens_hsa005901.15024957
71Pentose phosphate pathway_Homo sapiens_hsa000301.13681967
72Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.08944644
73Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.08026705
74Calcium signaling pathway_Homo sapiens_hsa040201.07292520
75Sulfur metabolism_Homo sapiens_hsa009201.06974188
76Insulin secretion_Homo sapiens_hsa049111.06057762
77Parkinsons disease_Homo sapiens_hsa050121.04801680
78Tyrosine metabolism_Homo sapiens_hsa003501.04255761
79Fat digestion and absorption_Homo sapiens_hsa049751.00625340
80Maturity onset diabetes of the young_Homo sapiens_hsa049500.94798670
81Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.91603595
82Fatty acid elongation_Homo sapiens_hsa000620.91475513
83Glutathione metabolism_Homo sapiens_hsa004800.91220652
84Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.91079921
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.89398442
86Lysine degradation_Homo sapiens_hsa003100.88991037
87Vascular smooth muscle contraction_Homo sapiens_hsa042700.87714980
88Huntingtons disease_Homo sapiens_hsa050160.87469806
89Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.82735263
90Cholinergic synapse_Homo sapiens_hsa047250.77681700
91Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.77588650
92Glycerolipid metabolism_Homo sapiens_hsa005610.77472479
93Steroid biosynthesis_Homo sapiens_hsa001000.75431017
94Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.75388721
95ABC transporters_Homo sapiens_hsa020100.75053866
96Cocaine addiction_Homo sapiens_hsa050300.72258136
97Staphylococcus aureus infection_Homo sapiens_hsa051500.72045695
98Fructose and mannose metabolism_Homo sapiens_hsa000510.71010260
99Salivary secretion_Homo sapiens_hsa049700.70089017
100Alzheimers disease_Homo sapiens_hsa050100.69036802
101Dopaminergic synapse_Homo sapiens_hsa047280.67101154
102RNA degradation_Homo sapiens_hsa030180.65960536
103Basal cell carcinoma_Homo sapiens_hsa052170.65174232
104Long-term depression_Homo sapiens_hsa047300.64928218
105Intestinal immune network for IgA production_Homo sapiens_hsa046720.64333796
106Metabolic pathways_Homo sapiens_hsa011000.63843350
107Pyrimidine metabolism_Homo sapiens_hsa002400.63348893
108Gastric acid secretion_Homo sapiens_hsa049710.62347168
109Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.61916767
110RNA polymerase_Homo sapiens_hsa030200.61820491
111Dorso-ventral axis formation_Homo sapiens_hsa043200.59031769
112cAMP signaling pathway_Homo sapiens_hsa040240.57264535
113RNA transport_Homo sapiens_hsa030130.55993344
114Amphetamine addiction_Homo sapiens_hsa050310.53077887
115Oxytocin signaling pathway_Homo sapiens_hsa049210.52622948
116Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.47480040
117Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.46531227
118Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.43909211
119Fatty acid biosynthesis_Homo sapiens_hsa000610.43579431
120Galactose metabolism_Homo sapiens_hsa000520.43255135
121Glycerophospholipid metabolism_Homo sapiens_hsa005640.43185826
122Type II diabetes mellitus_Homo sapiens_hsa049300.41076808
123Regulation of autophagy_Homo sapiens_hsa041400.40456672
124Aldosterone synthesis and secretion_Homo sapiens_hsa049250.37940373
125TGF-beta signaling pathway_Homo sapiens_hsa043500.37784439
126DNA replication_Homo sapiens_hsa030300.36981916
127Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.36336638
128Mineral absorption_Homo sapiens_hsa049780.36189425
129Proteasome_Homo sapiens_hsa030500.34826588
130Hedgehog signaling pathway_Homo sapiens_hsa043400.34586688
131Protein export_Homo sapiens_hsa030600.33579945
132Axon guidance_Homo sapiens_hsa043600.32114897
133Hippo signaling pathway_Homo sapiens_hsa043900.31298184
134Carbohydrate digestion and absorption_Homo sapiens_hsa049730.25429524
135Mismatch repair_Homo sapiens_hsa034300.21311770
136Purine metabolism_Homo sapiens_hsa002300.20990695
137Insulin resistance_Homo sapiens_hsa049310.20793650
138Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.20084297
139Adipocytokine signaling pathway_Homo sapiens_hsa049200.16866385
140Glucagon signaling pathway_Homo sapiens_hsa049220.16608985
141Nucleotide excision repair_Homo sapiens_hsa034200.16204097
142AMPK signaling pathway_Homo sapiens_hsa041520.16054321
143Cell cycle_Homo sapiens_hsa041100.13724746
144Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.13281531
145Renin-angiotensin system_Homo sapiens_hsa046140.12711147
146alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.12063921
147Linoleic acid metabolism_Homo sapiens_hsa005910.07170262
148p53 signaling pathway_Homo sapiens_hsa041150.05150478
149Circadian rhythm_Homo sapiens_hsa047100.02978204
150Spliceosome_Homo sapiens_hsa030400.02773551
151Homologous recombination_Homo sapiens_hsa034400.01781325
152Insulin signaling pathway_Homo sapiens_hsa04910-0.0167886
153Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0097674
154Base excision repair_Homo sapiens_hsa03410-0.0048780
155Prion diseases_Homo sapiens_hsa05020-0.0008042

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