LPIN1

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 a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fatty acid transmembrane transport (GO:1902001)5.67971077
2regulation of sequestering of triglyceride (GO:0010889)5.59659452
3carnitine shuttle (GO:0006853)5.57757845
4sperm motility (GO:0030317)5.47142855
5alpha-linolenic acid metabolic process (GO:0036109)5.38197694
6acrosome reaction (GO:0007340)5.30969448
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.16138302
8L-phenylalanine catabolic process (GO:0006559)5.16138302
9fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.98074871
10L-phenylalanine metabolic process (GO:0006558)4.94850432
11erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.94850432
12establishment of protein localization to Golgi (GO:0072600)4.91950395
13positive regulation of fatty acid beta-oxidation (GO:0032000)4.87527898
14fatty acid beta-oxidation (GO:0006635)4.86551574
15biotin metabolic process (GO:0006768)4.85000354
16carnitine transmembrane transport (GO:1902603)4.76340657
17regulation of triglyceride catabolic process (GO:0010896)4.75457030
18acetyl-CoA metabolic process (GO:0006084)4.68556998
19valine metabolic process (GO:0006573)4.68001741
20lysine catabolic process (GO:0006554)4.60073603
21lysine metabolic process (GO:0006553)4.60073603
22carnitine transport (GO:0015879)4.58614033
23amino-acid betaine transport (GO:0015838)4.58614033
24low-density lipoprotein particle clearance (GO:0034383)4.56419472
25protein polyglutamylation (GO:0018095)4.54479189
26protein targeting to Golgi (GO:0000042)4.49587420
27positive regulation of fatty acid oxidation (GO:0046321)4.45809274
28fatty acid oxidation (GO:0019395)4.44602586
29behavioral response to nicotine (GO:0035095)4.43554548
30triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.43337590
31complement activation, alternative pathway (GO:0006957)4.43131604
32lipid oxidation (GO:0034440)4.36729273
33aromatic amino acid family catabolic process (GO:0009074)4.34444434
342-oxoglutarate metabolic process (GO:0006103)4.34421628
35* fatty acid catabolic process (GO:0009062)4.34381943
36ketone body metabolic process (GO:1902224)4.30499131
37triglyceride catabolic process (GO:0019433)4.27816239
38retrograde transport, vesicle recycling within Golgi (GO:0000301)4.20417395
39sulfur amino acid catabolic process (GO:0000098)4.13563775
40response to pheromone (GO:0019236)4.13206784
41amino-acid betaine metabolic process (GO:0006577)4.11829408
42urea cycle (GO:0000050)4.11825305
43urea metabolic process (GO:0019627)4.11825305
44regulation of fatty acid oxidation (GO:0046320)4.09014851
45fusion of sperm to egg plasma membrane (GO:0007342)4.08379857
46positive regulation of lipid catabolic process (GO:0050996)4.06856252
47acylglycerol catabolic process (GO:0046464)4.06753769
48neutral lipid catabolic process (GO:0046461)4.06753769
49regulation of fatty acid beta-oxidation (GO:0031998)4.05823632
50plasma lipoprotein particle clearance (GO:0034381)3.96457337
51short-chain fatty acid metabolic process (GO:0046459)3.95377386
52acylglycerol homeostasis (GO:0055090)3.93082326
53triglyceride homeostasis (GO:0070328)3.93082326
54* monocarboxylic acid catabolic process (GO:0072329)3.89331028
55carnitine metabolic process (GO:0009437)3.86840188
56glyoxylate metabolic process (GO:0046487)3.84770620
57bile acid biosynthetic process (GO:0006699)3.83783636
58kynurenine metabolic process (GO:0070189)3.83766130
59branched-chain amino acid catabolic process (GO:0009083)3.81239092
60nitrogen cycle metabolic process (GO:0071941)3.80143031
61aspartate family amino acid catabolic process (GO:0009068)3.78475343
62tricarboxylic acid cycle (GO:0006099)3.76307384
63regulation of protein activation cascade (GO:2000257)3.76151568
64calcium ion-dependent exocytosis (GO:0017156)3.71396909
65thioester biosynthetic process (GO:0035384)3.71216834
66acyl-CoA biosynthetic process (GO:0071616)3.71216834
67phospholipid homeostasis (GO:0055091)3.70871930
68protein localization to Golgi apparatus (GO:0034067)3.70316334
69branched-chain amino acid metabolic process (GO:0009081)3.69622628
70quaternary ammonium group transport (GO:0015697)3.68502181
71tryptophan catabolic process (GO:0006569)3.64682715
72indole-containing compound catabolic process (GO:0042436)3.64682715
73indolalkylamine catabolic process (GO:0046218)3.64682715
74monoubiquitinated protein deubiquitination (GO:0035520)3.64511977
75cysteine metabolic process (GO:0006534)3.64457473
76multicellular organism reproduction (GO:0032504)3.60098297
77regulation of complement activation (GO:0030449)3.57835376
78spermatid development (GO:0007286)3.52051668
79tricarboxylic acid metabolic process (GO:0072350)3.51857681
80fatty acid homeostasis (GO:0055089)3.48641002
81ethanol oxidation (GO:0006069)3.46840735
82alpha-amino acid catabolic process (GO:1901606)3.46277351
83peptidyl-glutamic acid carboxylation (GO:0017187)3.44126007
84protein carboxylation (GO:0018214)3.44126007
85positive regulation of triglyceride metabolic process (GO:0090208)3.43955155
86regulation of triglyceride metabolic process (GO:0090207)3.43499863
87protein K48-linked deubiquitination (GO:0071108)3.43416905
88tryptophan metabolic process (GO:0006568)3.43053506
89fatty-acyl-CoA biosynthetic process (GO:0046949)3.42648850
90homocysteine metabolic process (GO:0050667)3.42119962
91regulation of cholesterol storage (GO:0010885)3.41669590
92microtubule severing (GO:0051013)3.39906162
93cellular ketone body metabolic process (GO:0046950)3.38120687
94coenzyme catabolic process (GO:0009109)3.37829241
95* organic acid catabolic process (GO:0016054)3.37104946
96* carboxylic acid catabolic process (GO:0046395)3.37104946
97oxaloacetate metabolic process (GO:0006107)3.36905901
98tyrosine metabolic process (GO:0006570)3.35871486
99serine family amino acid catabolic process (GO:0009071)3.35826242
100bile acid metabolic process (GO:0008206)3.35756217
101primary amino compound metabolic process (GO:1901160)3.34620374
102brown fat cell differentiation (GO:0050873)3.31816176
103high-density lipoprotein particle remodeling (GO:0034375)3.31527411
104cellular amino acid catabolic process (GO:0009063)3.31160175
105negative regulation of fibrinolysis (GO:0051918)3.30782245
106cilium or flagellum-dependent cell motility (GO:0001539)3.30364524
107positive regulation of fatty acid metabolic process (GO:0045923)3.29726878
108thioester metabolic process (GO:0035383)3.27541453
109acyl-CoA metabolic process (GO:0006637)3.27541453
110negative regulation of lipase activity (GO:0060192)3.26698506
111* triglyceride metabolic process (GO:0006641)3.24832508
112intracellular lipid transport (GO:0032365)3.24640633
113indolalkylamine metabolic process (GO:0006586)3.21539807
114positive regulation of glycolytic process (GO:0045821)3.21250018
115succinate metabolic process (GO:0006105)3.19221767
116regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.18811860
117regulation of triglyceride biosynthetic process (GO:0010866)3.18501982
118cytolysis (GO:0019835)3.18324850
119fatty-acyl-CoA metabolic process (GO:0035337)3.17323358
120NADH metabolic process (GO:0006734)3.17004278
121piRNA metabolic process (GO:0034587)3.14159728
122detection of light stimulus involved in sensory perception (GO:0050962)3.12922689
123detection of light stimulus involved in visual perception (GO:0050908)3.12922689
124regulation of Rab GTPase activity (GO:0032313)3.09586652
125positive regulation of Rab GTPase activity (GO:0032851)3.09586652
126RNA destabilization (GO:0050779)3.06507599
127reproduction (GO:0000003)3.04429504
128plasma membrane fusion (GO:0045026)3.04218035
129cAMP catabolic process (GO:0006198)3.01979125
130sperm capacitation (GO:0048240)3.01628413
131regulation of skeletal muscle contraction (GO:0014819)3.01326771
132organic cation transport (GO:0015695)2.99474843
133alanine transport (GO:0032328)2.99319704
134DNA methylation involved in gamete generation (GO:0043046)2.99258550
135negative regulation of cytosolic calcium ion concentration (GO:0051481)2.98013411
136membrane depolarization during action potential (GO:0086010)2.95921830
137interkinetic nuclear migration (GO:0022027)2.95703146
138* phosphatidylethanolamine metabolic process (GO:0046337)2.94266961
139regulation of cilium movement (GO:0003352)2.91768780
140* phosphatidylethanolamine biosynthetic process (GO:0006646)2.89495690
141seminiferous tubule development (GO:0072520)2.88395239
142centriole replication (GO:0007099)2.88305506
143multicellular organismal movement (GO:0050879)2.87686835
144musculoskeletal movement (GO:0050881)2.87686835
145serotonin metabolic process (GO:0042428)2.85552385
146single strand break repair (GO:0000012)2.81343925
147epithelial cilium movement (GO:0003351)2.80731223
148NAD biosynthetic process (GO:0009435)2.77428443
149positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.72663141
150spermatid nucleus differentiation (GO:0007289)2.72070414
151cyclic nucleotide catabolic process (GO:0009214)2.70610291
152sperm-egg recognition (GO:0035036)2.68034070
153macroautophagy (GO:0016236)2.66222393
154indole-containing compound metabolic process (GO:0042430)2.64536451
155regulation of sarcomere organization (GO:0060297)2.63920267
156spermatogenesis (GO:0007283)2.62660703
157gamma-aminobutyric acid transport (GO:0015812)2.62548864
158male gamete generation (GO:0048232)2.62104369
159membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.61489664
160G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.54426428
161detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.54157645
162behavioral response to ethanol (GO:0048149)2.53006482
163negative regulation of Rho protein signal transduction (GO:0035024)2.51230919
164axoneme assembly (GO:0035082)2.51161265
165neuromuscular synaptic transmission (GO:0007274)2.50130439
166calcium ion import (GO:0070509)2.46954301
167vesicle transport along microtubule (GO:0047496)2.41187475
168peristalsis (GO:0030432)2.40310477
169protein K63-linked deubiquitination (GO:0070536)2.40173852
170gamete generation (GO:0007276)2.37888801
171synaptic transmission, cholinergic (GO:0007271)2.36442304
172regulation of microtubule-based movement (GO:0060632)2.35346255
173neuronal action potential (GO:0019228)2.34529084
174negative regulation of inclusion body assembly (GO:0090084)2.34237150
175regulation of neurotransmitter uptake (GO:0051580)2.33810065
176cell-cell recognition (GO:0009988)2.31388029
177microtubule polymerization or depolymerization (GO:0031109)2.30615241
178reflex (GO:0060004)2.30153390
179regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.30137123
180regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.30137123
181pyridine nucleotide biosynthetic process (GO:0019363)2.29953204
182nicotinamide nucleotide biosynthetic process (GO:0019359)2.29953204
183cilium movement (GO:0003341)2.29192458
184amine catabolic process (GO:0009310)2.28835683
185cellular biogenic amine catabolic process (GO:0042402)2.28835683
186myofibril assembly (GO:0030239)2.28637215
187negative regulation of synaptic transmission, GABAergic (GO:0032229)2.28432337

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse8.36079616
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse8.08732070
3* RXR_22158963_ChIP-Seq_LIVER_Mouse5.86430186
4* PPARA_22158963_ChIP-Seq_LIVER_Mouse5.11558043
5* LXR_22158963_ChIP-Seq_LIVER_Mouse4.92949593
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.25407729
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.07150380
8EGR1_23403033_ChIP-Seq_LIVER_Mouse3.78842162
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.42697436
10EZH2_22144423_ChIP-Seq_EOC_Human3.40882710
11CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.81988290
12GBX2_23144817_ChIP-Seq_PC3_Human2.79147852
13GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.48360897
14* CLOCK_20551151_ChIP-Seq_293T_Human2.27395280
15VDR_22108803_ChIP-Seq_LS180_Human2.17292973
16ZNF274_21170338_ChIP-Seq_K562_Hela2.15836908
17CTBP2_25329375_ChIP-Seq_LNCAP_Human2.13901369
18CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.93476542
19ER_23166858_ChIP-Seq_MCF-7_Human1.90295578
20PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.89586610
21IGF1R_20145208_ChIP-Seq_DFB_Human1.83357746
22DROSHA_22980978_ChIP-Seq_HELA_Human1.78928466
23ZFP57_27257070_Chip-Seq_ESCs_Mouse1.74761709
24STAT3_23295773_ChIP-Seq_U87_Human1.72991693
25CTBP1_25329375_ChIP-Seq_LNCAP_Human1.72783489
26AR_21572438_ChIP-Seq_LNCaP_Human1.67897496
27ZNF263_19887448_ChIP-Seq_K562_Human1.65503215
28SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62041918
29AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.61801306
30POU3F2_20337985_ChIP-ChIP_501MEL_Human1.61768457
31FUS_26573619_Chip-Seq_HEK293_Human1.59707719
32RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.58539874
33* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.58538957
34* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.57167553
35* SMAD4_21799915_ChIP-Seq_A2780_Human1.55170656
36FLI1_27457419_Chip-Seq_LIVER_Mouse1.54319663
37CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.52121277
38TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51165070
39POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.51165070
40* FOXA2_19822575_ChIP-Seq_HepG2_Human1.50089357
41* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.48917737
42EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.48301852
43TCF4_23295773_ChIP-Seq_U87_Human1.47556689
44ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.44768364
45* TBX20_22328084_ChIP-Seq_HEART_Mouse1.44053840
46* TBX20_22080862_ChIP-Seq_HEART_Mouse1.44053840
47* AR_25329375_ChIP-Seq_VCAP_Human1.43059311
48* P300_19829295_ChIP-Seq_ESCs_Human1.41086169
49RARG_19884340_ChIP-ChIP_MEFs_Mouse1.40553655
50FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.40532821
51PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.37049221
52NR3C1_21868756_ChIP-Seq_MCF10A_Human1.36547485
53TAF15_26573619_Chip-Seq_HEK293_Human1.34567034
54* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33561108
55* REST_21632747_ChIP-Seq_MESCs_Mouse1.33164936
56* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.31430131
57GATA1_22025678_ChIP-Seq_K562_Human1.28803137
58PCGF2_27294783_Chip-Seq_ESCs_Mouse1.28207136
59TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28185566
60THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.26638278
61* ARNT_22903824_ChIP-Seq_MCF-7_Human1.24961108
62SMAD3_21741376_ChIP-Seq_EPCs_Human1.23779986
63* SMAD4_21741376_ChIP-Seq_EPCs_Human1.21690252
64* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21246349
65KLF5_20875108_ChIP-Seq_MESCs_Mouse1.17900054
66PCGF2_27294783_Chip-Seq_NPCs_Mouse1.17796276
67STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.17270213
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.16612614
69* PRDM14_20953172_ChIP-Seq_ESCs_Human1.16534818
70EP300_21415370_ChIP-Seq_HL-1_Mouse1.16411271
71SUZ12_27294783_Chip-Seq_NPCs_Mouse1.15168687
72MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.13929661
73LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.12473957
74BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.11883738
75* RUNX2_22187159_ChIP-Seq_PCA_Human1.11153014
76* FLI1_21867929_ChIP-Seq_TH2_Mouse1.10895135
77* SOX2_21211035_ChIP-Seq_LN229_Gbm1.10820927
78ETV2_25802403_ChIP-Seq_MESCs_Mouse1.10669836
79EZH2_27294783_Chip-Seq_ESCs_Mouse1.10054689
80SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.08247312
81* NANOG_19829295_ChIP-Seq_ESCs_Human1.07525797
82* SOX2_19829295_ChIP-Seq_ESCs_Human1.07525797
83GATA3_21878914_ChIP-Seq_MCF-7_Human1.07117832
84* STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.06905354
85* CBX2_27304074_Chip-Seq_ESCs_Mouse1.06403746
86* RUNX_20019798_ChIP-Seq_JUKART_Human1.06314548
87KDM2B_26808549_Chip-Seq_REH_Human1.05051286
88AHR_22903824_ChIP-Seq_MCF-7_Human1.04967382
89SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.03196789
90* HNF4A_19822575_ChIP-Seq_HepG2_Human1.02320625
91CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.02078524
92NFE2_27457419_Chip-Seq_LIVER_Mouse1.01789359
93SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.01038863
94MTF2_20144788_ChIP-Seq_MESCs_Mouse1.00654875
95CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.99917965
96JARID2_20064375_ChIP-Seq_MESCs_Mouse0.99749808
97SUZ12_27294783_Chip-Seq_ESCs_Mouse0.99623544
98RXR_22108803_ChIP-Seq_LS180_Human0.99576773
99BMI1_23680149_ChIP-Seq_NPCS_Mouse0.99381960
100EZH2_27294783_Chip-Seq_NPCs_Mouse0.99129004
101JARID2_20075857_ChIP-Seq_MESCs_Mouse0.98935456
102FOXA1_21572438_ChIP-Seq_LNCaP_Human0.98804150
103REST_18959480_ChIP-ChIP_MESCs_Mouse0.98659340
104* EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.98301702
105CJUN_26792858_Chip-Seq_BT549_Human0.97986552
106PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.97702941
107IRF8_22096565_ChIP-ChIP_GC-B_Human0.96365245
108TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.96342966
109* SMAD4_21741376_ChIP-Seq_HESCs_Human0.96220739
110* SMAD3_21741376_ChIP-Seq_ESCs_Human0.95980881
111NCOR_22424771_ChIP-Seq_293T_Human0.95841178
112MYC_19829295_ChIP-Seq_ESCs_Human0.95714728
113BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.95646791
114TBL1_22424771_ChIP-Seq_293T_Human0.95606848
115* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.95366241
116PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.95041063
117PPAR_26484153_Chip-Seq_NCI-H1993_Human0.94992199
118NANOG_18555785_Chip-Seq_ESCs_Mouse0.94893039
119OCT1_27270436_Chip-Seq_PROSTATE_Human0.94086751
120* TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.93311656
121Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.92549967
122TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91654583
123ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.91042801
124ESR1_20079471_ChIP-ChIP_T-47D_Human0.88976800
125RXRA_24833708_ChIP-Seq_LIVER_Mouse0.86521574
126HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.86359943
127TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.85396685
128* SOX2_27498859_Chip-Seq_STOMACH_Mouse0.84546621
129AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83775250
130ESR2_21235772_ChIP-Seq_MCF-7_Human0.83506885
131STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.83013768
132HTT_18923047_ChIP-ChIP_STHdh_Human0.78209947
133AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.77854869
134IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.77311494
135CBP_20019798_ChIP-Seq_JUKART_Human0.77311494
136CDX2_19796622_ChIP-Seq_MESCs_Mouse0.76988883
137* RAD21_21589869_ChIP-Seq_MESCs_Mouse0.76872248
138GATA1_19941826_ChIP-Seq_K562_Human0.75889013
139BCAT_22108803_ChIP-Seq_LS180_Human0.72740217
140* GATA2_19941826_ChIP-Seq_K562_Human0.71584798
141* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.68299881
142GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.67754835
143ELK4_26923725_Chip-Seq_MESODERM_Mouse0.67754157
144STAT1_17558387_ChIP-Seq_HELA_Human0.66984857
145ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.66808503
146* CEBPB_22108803_ChIP-Seq_LS180_Human0.66735175
147LXR_22292898_ChIP-Seq_THP-1_Human0.65233037
148FOXO3_23340844_ChIP-Seq_DLD1_Human0.65120293
149PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.64754554
150KLF4_19829295_ChIP-Seq_ESCs_Human0.63864608
151* SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.63322923
152* ERG_20517297_ChIP-Seq_VCAP_Human0.62656986
153NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.62389272
154NRF2_20460467_ChIP-Seq_MEFs_Mouse0.62389272
155CBP_21632823_ChIP-Seq_H3396_Human0.61220682
156SOX9_24532713_ChIP-Seq_HFSC_Mouse0.61124185
157* MYC_27129775_Chip-Seq_CORNEA_Mouse0.60120869
158NFIB_24661679_ChIP-Seq_LUNG_Mouse0.59483673
159* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.59165506
160ESET_19884257_ChIP-Seq_ESCs_Mouse0.59125716
161P53_21459846_ChIP-Seq_SAOS-2_Human0.59090983
162CTCF_27219007_Chip-Seq_Bcells_Human0.58313139
163PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.58128062
164GATA2_21666600_ChIP-Seq_HMVEC_Human0.57672705
165RARA_24833708_ChIP-Seq_LIVER_Mouse0.57171754
166* TP63_22573176_ChIP-Seq_HFKS_Human0.55678400
167* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.54860405
168FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.54448570
169CSB_26484114_Chip-Seq_FIBROBLAST_Human0.53984119
170VDR_24787735_ChIP-Seq_THP-1_Human0.53462833
171SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.53320132
172GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.52866681
173CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.52649926
174PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.51321173
175FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.50985680
176RAC3_21632823_ChIP-Seq_H3396_Human0.50807578
177IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.50802914
178PIAS1_25552417_ChIP-Seq_VCAP_Human0.50613004
179* LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.50114919
180SOX2_22085726_ChIP-Seq_NPCs_Mouse0.50076834
181CDX2_22108803_ChIP-Seq_LS180_Human0.49716018
182MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.49659339
183* OCT4_20526341_ChIP-Seq_ESCs_Human0.49387056
184* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.49304945
185SMC4_20622854_ChIP-Seq_HELA_Human0.49245761
186STAT3_1855785_ChIP-Seq_MESCs_Mouse0.48810748

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system5.58476342
2MP0005360_urolithiasis4.74406947
3MP0005365_abnormal_bile_salt4.36853331
4* MP0005670_abnormal_white_adipose4.18476474
5MP0005085_abnormal_gallbladder_physiolo4.16011599
6MP0002837_dystrophic_cardiac_calcinosis3.81355927
7MP0004130_abnormal_muscle_cell3.75580555
8* MP0010329_abnormal_lipoprotein_level3.24533840
9MP0008875_abnormal_xenobiotic_pharmacok3.17771842
10MP0003646_muscle_fatigue3.08940873
11* MP0005666_abnormal_adipose_tissue3.00067592
12MP0003806_abnormal_nucleotide_metabolis2.57342952
13MP0003252_abnormal_bile_duct2.51820229
14MP0003191_abnormal_cellular_cholesterol2.42218200
15* MP0002118_abnormal_lipid_homeostasis2.35832699
16MP0004185_abnormal_adipocyte_glucose2.31485367
17MP0005410_abnormal_fertilization2.24961066
18MP0005332_abnormal_amino_acid2.20413102
19MP0009840_abnormal_foam_cell2.15941514
20MP0000569_abnormal_digit_pigmentation2.14374778
21* MP0002971_abnormal_brown_adipose2.09372052
22* MP0005375_adipose_tissue_phenotype2.03418032
23MP0000751_myopathy2.03069201
24* MP0000609_abnormal_liver_physiology1.96089561
25MP0005083_abnormal_biliary_tract1.94854632
26MP0001501_abnormal_sleep_pattern1.89061549
27MP0009046_muscle_twitch1.88598072
28MP0005551_abnormal_eye_electrophysiolog1.84150793
29MP0006036_abnormal_mitochondrial_physio1.76285721
30MP0002822_catalepsy1.73488953
31MP0003879_abnormal_hair_cell1.71378305
32MP0005645_abnormal_hypothalamus_physiol1.70635979
33MP0005377_hearing/vestibular/ear_phenot1.70375863
34MP0003878_abnormal_ear_physiology1.70375863
35MP0001486_abnormal_startle_reflex1.69621664
36MP0000372_irregular_coat_pigmentation1.69606690
37* MP0003698_abnormal_male_reproductive1.66354254
38MP0000749_muscle_degeneration1.65693323
39* MP0005334_abnormal_fat_pad1.65633940
40* MP0005319_abnormal_enzyme/_coenzyme1.64552916
41MP0004036_abnormal_muscle_relaxation1.62558405
42MP0003195_calcinosis1.61927537
43MP0009745_abnormal_behavioral_response1.56201713
44MP0001968_abnormal_touch/_nociception1.54520297
45MP0005535_abnormal_body_temperature1.54252423
46MP0005646_abnormal_pituitary_gland1.52853591
47MP0004142_abnormal_muscle_tone1.51825515
48MP0001666_abnormal_nutrient_absorption1.47413519
49* MP0002272_abnormal_nervous_system1.46554539
50* MP0005584_abnormal_enzyme/coenzyme_acti1.45408846
51MP0005330_cardiomyopathy1.43051476
52MP0004019_abnormal_vitamin_homeostasis1.41838380
53MP0004087_abnormal_muscle_fiber1.39836369
54MP0003705_abnormal_hypodermis_morpholog1.37688492
55MP0003045_fibrosis1.36022684
56* MP0002078_abnormal_glucose_homeostasis1.35254774
57MP0001929_abnormal_gametogenesis1.34060057
58MP0001764_abnormal_homeostasis1.34040488
59* MP0009115_abnormal_fat_cell1.33832910
60MP0000013_abnormal_adipose_tissue1.33659778
61MP0002572_abnormal_emotion/affect_behav1.33325990
62MP0005386_behavior/neurological_phenoty1.32799920
63MP0004924_abnormal_behavior1.32799920
64MP0001485_abnormal_pinna_reflex1.30856758
65MP0002735_abnormal_chemical_nociception1.29244094
66MP0004215_abnormal_myocardial_fiber1.29140070
67MP0004084_abnormal_cardiac_muscle1.28639701
68MP0001661_extended_life_span1.28628685
69MP0000003_abnormal_adipose_tissue1.26710684
70MP0000015_abnormal_ear_pigmentation1.26398347
71MP0006276_abnormal_autonomic_nervous1.26196287
72* MP0002269_muscular_atrophy1.26185208
73MP0002064_seizures1.25096983
74MP0002876_abnormal_thyroid_physiology1.24109935
75MP0008872_abnormal_physiological_respon1.23608483
76MP0005620_abnormal_muscle_contractility1.20862656
77MP0001348_abnormal_lacrimal_gland1.20652167
78MP0008877_abnormal_DNA_methylation1.18410885
79MP0004885_abnormal_endolymph1.18115079
80MP0003011_delayed_dark_adaptation1.17907569
81MP0003186_abnormal_redox_activity1.15783913
82* MP0002970_abnormal_white_adipose1.15340687
83MP0005423_abnormal_somatic_nervous1.13489067
84MP0003635_abnormal_synaptic_transmissio1.12672852
85MP0002332_abnormal_exercise_endurance1.12117308
86MP0000759_abnormal_skeletal_muscle1.11792615
87MP0002733_abnormal_thermal_nociception1.11411548
88MP0008775_abnormal_heart_ventricle1.10952314
89MP0006138_congestive_heart_failure1.10848735
90MP0008438_abnormal_cutaneous_collagen1.09555366
91MP0009643_abnormal_urine_homeostasis1.08745196
92MP0005448_abnormal_energy_balance1.07999952
93MP0002102_abnormal_ear_morphology1.05820676
94MP0005385_cardiovascular_system_phenoty1.05744190
95MP0001544_abnormal_cardiovascular_syste1.05744190
96* MP0002067_abnormal_sensory_capabilities1.05681627
97MP0004085_abnormal_heartbeat1.05597910
98MP0004145_abnormal_muscle_electrophysio1.05019091
99MP0001970_abnormal_pain_threshold1.04163356
100MP0000747_muscle_weakness1.03432199
101MP0005174_abnormal_tail_pigmentation1.01670948
102MP0001440_abnormal_grooming_behavior1.00881848
103MP0002638_abnormal_pupillary_reflex0.99231651
104MP0003656_abnormal_erythrocyte_physiolo0.98894727
105MP0005253_abnormal_eye_physiology0.98880264
106MP0001905_abnormal_dopamine_level0.98775329
107MP0002106_abnormal_muscle_physiology0.98706884
108MP0000750_abnormal_muscle_regeneration0.98181048
109MP0003137_abnormal_impulse_conducting0.97724835
110MP0005647_abnormal_sex_gland0.97111690
111MP0001984_abnormal_olfaction0.95854397
112MP0003690_abnormal_glial_cell0.95349598
113MP0002972_abnormal_cardiac_muscle0.95074548
114* MP0002229_neurodegeneration0.94508904
115MP0002063_abnormal_learning/memory/cond0.91397469
116MP0004742_abnormal_vestibular_system0.90114026
117* MP0002557_abnormal_social/conspecific_i0.89143939
118MP0005451_abnormal_body_composition0.89011166
119MP0002138_abnormal_hepatobiliary_system0.88663375
120MP0001963_abnormal_hearing_physiology0.87999638
121MP0003787_abnormal_imprinting0.87754582
122MP0003868_abnormal_feces_composition0.87451128
123MP0010386_abnormal_urinary_bladder0.87034931
124MP0010630_abnormal_cardiac_muscle0.85281788
125MP0002653_abnormal_ependyma_morphology0.85250433
126* MP0000598_abnormal_liver_morphology0.84288960
127MP0002254_reproductive_system_inflammat0.82970672
128MP0001502_abnormal_circadian_rhythm0.80470277
129MP0003221_abnormal_cardiomyocyte_apopto0.80112993
130MP0001765_abnormal_ion_homeostasis0.79951328
131MP0009763_increased_sensitivity_to0.79766888
132MP0006035_abnormal_mitochondrial_morpho0.79452282
133MP0003880_abnormal_central_pattern0.79243893
134MP0002928_abnormal_bile_duct0.79183109
135* MP0008569_lethality_at_weaning0.78561795
136MP0005369_muscle_phenotype0.77770509
137MP0002127_abnormal_cardiovascular_syste0.77340491
138* MP0005452_abnormal_adipose_tissue0.76909018
139MP0000230_abnormal_systemic_arterial0.75811693
140MP0008961_abnormal_basal_metabolism0.75618843
141* MP0005266_abnormal_metabolism0.74425223
142* MP0009642_abnormal_blood_homeostasis0.73873185
143* MP0003959_abnormal_lean_body0.71952099
144MP0001881_abnormal_mammary_gland0.71680290
145MP0002909_abnormal_adrenal_gland0.70777786
146* MP0003953_abnormal_hormone_level0.69053523
147MP0005636_abnormal_mineral_homeostasis0.67661589
148MP0001756_abnormal_urination0.67071041
149MP0004233_abnormal_muscle_weight0.66821233
150MP0009697_abnormal_copulation0.66692140
151MP0005275_abnormal_skin_tensile0.66064133
152* MP0005376_homeostasis/metabolism_phenot0.66031395
153MP0000604_amyloidosis0.64503380
154MP0003724_increased_susceptibility_to0.60248542
155MP0004043_abnormal_pH_regulation0.58909988
156MP0002108_abnormal_muscle_morphology0.57800523
157MP0004484_altered_response_of0.57506200
158MP0004147_increased_porphyrin_level0.57482317
159MP0003950_abnormal_plasma_membrane0.57302392
160MP0008469_abnormal_protein_level0.56247840

Predicted human phenotypes

RankGene SetZ-score
1Xanthomatosis (HP:0000991)4.62489885
2Hyperglycinuria (HP:0003108)4.58989003
3Ketosis (HP:0001946)4.56032049
4Complement deficiency (HP:0004431)4.49910898
5Deep venous thrombosis (HP:0002625)4.40402098
6Hyperlipoproteinemia (HP:0010980)4.34174639
7Hypoalphalipoproteinemia (HP:0003233)4.30799974
8Abnormality of aromatic amino acid family metabolism (HP:0004338)4.28027811
9* Myoglobinuria (HP:0002913)4.21772214
10Hyperammonemia (HP:0001987)4.21369287
11Hypoglycemic coma (HP:0001325)4.20950908
12Intrahepatic cholestasis (HP:0001406)4.18911793
13Exercise-induced myalgia (HP:0003738)4.15300771
14Abnormality of serine family amino acid metabolism (HP:0010894)4.09564086
15Abnormality of glycine metabolism (HP:0010895)4.09564086
16Genetic anticipation (HP:0003743)4.04914561
17Ketoacidosis (HP:0001993)3.96312567
18Attenuation of retinal blood vessels (HP:0007843)3.94078774
19Progressive cerebellar ataxia (HP:0002073)3.93986504
20Abnormality of fatty-acid metabolism (HP:0004359)3.90170915
21Muscle fiber inclusion bodies (HP:0100299)3.83664746
22Epidermoid cyst (HP:0200040)3.79213243
23Hypolipoproteinemia (HP:0010981)3.75449514
24Chronic hepatic failure (HP:0100626)3.69597366
25Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.69022557
26Abnormality of monocarboxylic acid metabolism (HP:0010996)3.66618494
27Oligomenorrhea (HP:0000876)3.65843830
28Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.59475229
29Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.58796079
30Hyperglycinemia (HP:0002154)3.54367993
31Nemaline bodies (HP:0003798)3.49815909
32Prolonged partial thromboplastin time (HP:0003645)3.47949872
33Hypobetalipoproteinemia (HP:0003563)3.46598913
34Congenital stationary night blindness (HP:0007642)3.36251677
35Nephronophthisis (HP:0000090)3.31290312
36Abnormality of the renal cortex (HP:0011035)3.27705094
37Bony spicule pigmentary retinopathy (HP:0007737)3.25861185
38Exercise-induced muscle cramps (HP:0003710)3.23790491
39Hyporeflexia of lower limbs (HP:0002600)3.20790613
40Gaze-evoked nystagmus (HP:0000640)3.18532204
41Abnormality of complement system (HP:0005339)3.17305519
42Febrile seizures (HP:0002373)3.13673948
43Dicarboxylic aciduria (HP:0003215)3.13233035
44Abnormality of dicarboxylic acid metabolism (HP:0010995)3.13233035
45Abnormality of glutamine family amino acid metabolism (HP:0010902)3.10173884
46* Rhabdomyolysis (HP:0003201)3.09901990
47Difficulty running (HP:0009046)3.07229119
48Hypoplastic ischia (HP:0003175)3.05254430
49Hypercholesterolemia (HP:0003124)3.02023747
50Inability to walk (HP:0002540)2.99073295
51Abnormality of the renal medulla (HP:0100957)2.97631159
52Hypertriglyceridemia (HP:0002155)2.95772014
53Severe visual impairment (HP:0001141)2.91445412
54Skin nodule (HP:0200036)2.83134985
55Pancreatic cysts (HP:0001737)2.83057271
56Facial shape deformation (HP:0011334)2.76686102
57Potter facies (HP:0002009)2.76686102
58Acanthosis nigricans (HP:0000956)2.75021326
59Muscle fiber splitting (HP:0003555)2.69171543
60Polydipsia (HP:0001959)2.68449705
61Abnormal drinking behavior (HP:0030082)2.68449705
62Abnormality of purine metabolism (HP:0004352)2.66396724
63Tubular atrophy (HP:0000092)2.65822515
64Generalized aminoaciduria (HP:0002909)2.64148090
65Abnormality of the ischium (HP:0003174)2.63314447
66Abnormality of macular pigmentation (HP:0008002)2.62826453
67Increased connective tissue (HP:0009025)2.61329669
68Abnormality of the common coagulation pathway (HP:0010990)2.61241879
69Type II lissencephaly (HP:0007260)2.60603619
70Calf muscle hypertrophy (HP:0008981)2.58163061
71Cerebral edema (HP:0002181)2.57958250
72Insulin-resistant diabetes mellitus (HP:0000831)2.56951615
73Abnormal rod and cone electroretinograms (HP:0008323)2.56641746
74Joint hemorrhage (HP:0005261)2.56603313
75Metabolic acidosis (HP:0001942)2.55661680
76Myocardial infarction (HP:0001658)2.54928389
77Abnormality of aspartate family amino acid metabolism (HP:0010899)2.54173566
78Muscle hypertrophy of the lower extremities (HP:0008968)2.51158440
79Abnormality of alanine metabolism (HP:0010916)2.50102932
80Hyperalaninemia (HP:0003348)2.50102932
81Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.50102932
82Hyperinsulinemic hypoglycemia (HP:0000825)2.50084684
83Truncal obesity (HP:0001956)2.48011748
84Lethargy (HP:0001254)2.47392382
85Cholelithiasis (HP:0001081)2.47329550
86Abnormality of serum amino acid levels (HP:0003112)2.47198689
87Hyperglycemia (HP:0003074)2.44948380
88Sudden death (HP:0001699)2.44094254
89Abnormal gallbladder physiology (HP:0012438)2.42766559
90Cholecystitis (HP:0001082)2.42766559
91Hyperventilation (HP:0002883)2.41502224
92Abnormal gallbladder morphology (HP:0012437)2.40167558
93Abnormality of sulfur amino acid metabolism (HP:0004339)2.37559700
94Tubulointerstitial nephritis (HP:0001970)2.36209121
95Muscle stiffness (HP:0003552)2.36094081
96Molar tooth sign on MRI (HP:0002419)2.35714432
97Abnormality of midbrain morphology (HP:0002418)2.35714432
98Hemorrhage of the eye (HP:0011885)2.35515681
99Decreased circulating renin level (HP:0003351)2.35472605
100Asymmetric septal hypertrophy (HP:0001670)2.35044812
101Hyperbilirubinemia (HP:0002904)2.32920377
102Increased muscle lipid content (HP:0009058)2.32120158
103Gout (HP:0001997)2.31366866
104* Hyperkalemia (HP:0002153)2.30867783
105Congenital sensorineural hearing impairment (HP:0008527)2.30824119
106Large for gestational age (HP:0001520)2.30634146
107Increased purine levels (HP:0004368)2.30363752
108Hyperuricemia (HP:0002149)2.30363752
109Abnormality of methionine metabolism (HP:0010901)2.28873996
110Focal seizures (HP:0007359)2.27882696
111Pancreatic fibrosis (HP:0100732)2.27061487
112Pancreatitis (HP:0001733)2.26501226
113Abnormality of nucleobase metabolism (HP:0010932)2.25951273
114Hydroxyprolinuria (HP:0003080)2.25651727
115Abnormality of proline metabolism (HP:0010907)2.25651727
116Clumsiness (HP:0002312)2.24579295
117Progressive inability to walk (HP:0002505)2.24540557
118Protruding tongue (HP:0010808)2.23458183
119Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.21871972
120Insulin resistance (HP:0000855)2.19789099
121Diplopia (HP:0000651)2.19773278
122Abnormality of binocular vision (HP:0011514)2.19773278
123Hypokalemia (HP:0002900)2.19391683
124Abnormality of the intrinsic pathway (HP:0010989)2.18934751
125Lipoatrophy (HP:0100578)2.18565766
126Hypoglycemic seizures (HP:0002173)2.16782669
127Medial flaring of the eyebrow (HP:0010747)2.15867214
128Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.14933698
129Tubulointerstitial abnormality (HP:0001969)2.14848973
130Frequent falls (HP:0002359)2.13996383
131Dialeptic seizures (HP:0011146)2.10835090
132Abnormal urine output (HP:0012590)2.10672920
133Fat malabsorption (HP:0002630)2.10597491
134Cerebellar dysplasia (HP:0007033)2.10210786
135Polyuria (HP:0000103)2.10019497
136Vomiting (HP:0002013)2.09823563
137Ulnar deviation of the wrist (HP:0003049)2.09821032
138* Abnormality of potassium homeostasis (HP:0011042)2.08280374
139Myotonia (HP:0002486)2.08277386
140Ventricular tachycardia (HP:0004756)2.07047088
141Distal arthrogryposis (HP:0005684)2.05975060
142Palpitations (HP:0001962)2.04456095
143Late onset (HP:0003584)2.02206873
144Renal cortical cysts (HP:0000803)2.00775183
145Vascular calcification (HP:0004934)2.00433457
146Hepatic necrosis (HP:0002605)1.99492611
147Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.98733539
148Right ventricular cardiomyopathy (HP:0011663)1.98623985
149Systemic lupus erythematosus (HP:0002725)1.98362286
150Decreased central vision (HP:0007663)1.96220919
151Dynein arm defect of respiratory motile cilia (HP:0012255)1.95950854
152Absent/shortened dynein arms (HP:0200106)1.95950854
153Sensorimotor neuropathy (HP:0007141)1.95816844
154Amelogenesis imperfecta (HP:0000705)1.94495410
155Absent speech (HP:0001344)1.91969677
156Postural instability (HP:0002172)1.91472775
157Stage 5 chronic kidney disease (HP:0003774)1.89252256
158Metaphyseal dysplasia (HP:0100255)1.88398736
159Cone-rod dystrophy (HP:0000548)1.87956223
160Bulbous nose (HP:0000414)1.87475942
161Growth hormone excess (HP:0000845)1.87017916
162Bundle branch block (HP:0011710)1.87009420
163Albinism (HP:0001022)1.85869482
164Cardiovascular calcification (HP:0011915)1.84338494
165Focal motor seizures (HP:0011153)1.84328863
166Type 1 muscle fiber predominance (HP:0003803)1.83638227
167Abnormal ciliary motility (HP:0012262)1.81534979
168Brushfield spots (HP:0001088)1.80888080
169Absence seizures (HP:0002121)1.80162565
170Abnormality of the left ventricular outflow tract (HP:0011103)1.79191956
171Subaortic stenosis (HP:0001682)1.79191956
172True hermaphroditism (HP:0010459)1.79145277
173Abnormality of the gallbladder (HP:0005264)1.77889492
174Proximal tubulopathy (HP:0000114)1.77797433
175Difficulty walking (HP:0002355)1.77779948
176Abnormality of dental color (HP:0011073)1.77672880
177Congenital hepatic fibrosis (HP:0002612)1.76665929
178Fair hair (HP:0002286)1.76278868
179Fatigable weakness (HP:0003473)1.75652695
180Abnormality of the neuromuscular junction (HP:0003398)1.75652695
181Anterior segment dysgenesis (HP:0007700)1.74892613
182Scotoma (HP:0000575)1.73760701
183Abnormality of renal excretion (HP:0011036)1.73591330
184Cystic liver disease (HP:0006706)1.73452477
185Abolished electroretinogram (ERG) (HP:0000550)1.72229563
186Gait imbalance (HP:0002141)1.71723697
187Keratoconus (HP:0000563)1.71675942
188Increased corneal curvature (HP:0100692)1.71675942

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK44.75708164
2PDK34.75708164
3BCKDK4.74375974
4TRIB33.58480259
5CAMK1D3.07845589
6SIK13.07305297
7PDK22.98601169
8CAMK1G2.53393629
9PHKG12.53307760
10PHKG22.53307760
11TTN2.52352213
12MAP4K22.35579207
13INSRR2.29190170
14ADRBK22.18839160
15ACVR1B2.12015184
16OBSCN2.11655025
17LMTK22.08777623
18ERN11.98978546
19PRKD31.86747830
20PKN21.81381381
21PINK11.80310756
22FGFR41.80149516
23BMPR1B1.75040309
24PLK41.69968560
25AKT31.64994664
26ICK1.62848907
27PRKAA21.59544570
28CAMKK21.50969753
29MAPK131.50216594
30DAPK21.43281420
31GRK11.39886607
32RIPK11.37813558
33NTRK31.36489421
34MAP3K71.33808930
35PNCK1.30136411
36MARK11.28282350
37TRPM71.28176775
38TXK1.26747264
39SIK21.26484184
40MAP2K41.25412643
41MAP3K41.19461213
42TGFBR21.18437181
43PRKAA11.16298957
44MAP2K31.14577449
45PIK3CA1.14156814
46FLT31.04870771
47PDPK11.00483021
48NEK90.99801880
49MAP3K30.97737040
50MAPK110.96996906
51PDK10.95706101
52MYLK0.95638783
53ADRBK10.95157327
54STK380.94925070
55DDR20.94695989
56MST1R0.91942189
57TESK10.87438804
58KIT0.86899585
59FGFR30.85798975
60PLK20.85709014
61PIK3CG0.84583008
62EPHB10.84542991
63TNK20.83360196
64LATS10.82942421
65WNK40.82393907
66JAK10.81483061
67JAK20.78851404
68FGFR20.78772920
69MAPK120.77212542
70TYRO30.75340156
71PTK2B0.74022923
72ERBB40.73906499
73CAMKK10.73576040
74TIE10.73253887
75FRK0.73136597
76PTK60.72033839
77TAOK30.68270549
78PRKACG0.67188857
79NEK20.65078880
80TEC0.64129967
81MAP2K20.61583642
82CASK0.61173416
83PDGFRA0.60278296
84STK160.60178764
85PAK30.59933200
86ITK0.59930302
87PRKCG0.58907833
88NUAK10.57164805
89PRKD10.56939658
90SGK4940.56626884
91SGK2230.56626884
92SYK0.55519444
93SGK10.55471789
94PRKCE0.54366530
95CCNB10.54247834
96DYRK1B0.54187086
97SGK30.54073262
98EPHA30.53996006
99MTOR0.53942834
100PRKCH0.53330345
101RET0.53029558
102CAMK2A0.52585346
103STK38L0.52342835
104CDK30.52052844
105PRKG10.51924776
106PRKCQ0.50632514
107CHUK0.50049713
108IKBKB0.45833146
109WNK30.44831155
110MAPKAPK30.44371019
111GSK3A0.43777154
112MAP2K70.43625723
113CDK60.43383276
114DMPK0.42852642
115MAPK40.42769065
116RPS6KA60.42683296
117MAPK150.42251981
118MAP3K50.42240186
119MAP2K60.42174480
120NTRK20.41344002
121GRK70.40447224
122NLK0.40257011
123ILK0.39441702
124MAPKAPK50.39416289
125IRAK10.39351716
126MARK20.39054308
127MAP2K10.38625786
128TYK20.38356110
129CDK90.37959851
130OXSR10.37291532
131MUSK0.37131574
132WNK10.36599884
133PKN10.35765725
134CAMK10.35257470
135CSK0.34145299
136CAMK40.33900270
137PRKCZ0.33811622
138SGK20.32224557
139MAP3K10.31605086
140MAP3K20.30431935
141MAPK70.30361348
142IGF1R0.29666771
143MAP3K60.29640913
144MET0.29489508
145STK390.28890857
146MAP3K110.28220347
147CAMK2G0.26577824
148TAOK20.25360253
149PRKACA0.25350288
150NEK10.24779800
151RPS6KA20.24379460
152RPS6KA30.24127947

Predicted pathways (KEGG)

RankGene SetZ-score
1Propanoate metabolism_Homo sapiens_hsa006403.61485673
2Fatty acid degradation_Homo sapiens_hsa000713.23564367
3Primary bile acid biosynthesis_Homo sapiens_hsa001203.02708396
4Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.98666008
5Nitrogen metabolism_Homo sapiens_hsa009102.92885433
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.91392562
7PPAR signaling pathway_Homo sapiens_hsa033202.90912801
8Fatty acid metabolism_Homo sapiens_hsa012122.89337051
9Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.82714702
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.62029586
11Fatty acid biosynthesis_Homo sapiens_hsa000612.53986348
12Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.52170190
13Arginine biosynthesis_Homo sapiens_hsa002202.36688252
14Pyruvate metabolism_Homo sapiens_hsa006202.36118924
15Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.21834585
16Tryptophan metabolism_Homo sapiens_hsa003802.20406356
17Phototransduction_Homo sapiens_hsa047442.08185267
18Butanoate metabolism_Homo sapiens_hsa006502.06126162
19Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.05542435
20Nicotine addiction_Homo sapiens_hsa050332.03088672
21Peroxisome_Homo sapiens_hsa041461.93818295
22Carbon metabolism_Homo sapiens_hsa012001.89091212
23Complement and coagulation cascades_Homo sapiens_hsa046101.83460009
24Olfactory transduction_Homo sapiens_hsa047401.82738714
25Dorso-ventral axis formation_Homo sapiens_hsa043201.81688344
26Caffeine metabolism_Homo sapiens_hsa002321.76296044
27beta-Alanine metabolism_Homo sapiens_hsa004101.71801682
28Morphine addiction_Homo sapiens_hsa050321.71007805
29Calcium signaling pathway_Homo sapiens_hsa040201.64409698
30Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.60133371
31Pentose and glucuronate interconversions_Homo sapiens_hsa000401.55035351
32Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.50219012
33Taste transduction_Homo sapiens_hsa047421.49209277
34Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.47834324
35Circadian entrainment_Homo sapiens_hsa047131.47381967
36Fatty acid elongation_Homo sapiens_hsa000621.43423606
37Phenylalanine metabolism_Homo sapiens_hsa003601.41195263
38Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.40246091
39Insulin secretion_Homo sapiens_hsa049111.39183929
40Starch and sucrose metabolism_Homo sapiens_hsa005001.37694220
41Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.34572063
42Fat digestion and absorption_Homo sapiens_hsa049751.33198478
43Salivary secretion_Homo sapiens_hsa049701.32335121
44* Glycerolipid metabolism_Homo sapiens_hsa005611.31582867
45Glutamatergic synapse_Homo sapiens_hsa047241.29065673
46Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.28927978
47Biosynthesis of amino acids_Homo sapiens_hsa012301.27777405
48Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.27759584
49Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.25695483
50Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.21470116
51Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.21091563
52Chemical carcinogenesis_Homo sapiens_hsa052041.18866299
53Tyrosine metabolism_Homo sapiens_hsa003501.18636636
54Vascular smooth muscle contraction_Homo sapiens_hsa042701.18299781
55GABAergic synapse_Homo sapiens_hsa047271.17769594
56ABC transporters_Homo sapiens_hsa020101.16763423
57Serotonergic synapse_Homo sapiens_hsa047261.16087414
58Bile secretion_Homo sapiens_hsa049761.15833287
59Staphylococcus aureus infection_Homo sapiens_hsa051501.15772000
60Oxytocin signaling pathway_Homo sapiens_hsa049211.15419042
61Adipocytokine signaling pathway_Homo sapiens_hsa049201.14908475
62Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.12856946
63Aldosterone synthesis and secretion_Homo sapiens_hsa049251.07227975
64Steroid hormone biosynthesis_Homo sapiens_hsa001401.02381618
65Sulfur metabolism_Homo sapiens_hsa009201.00477974
66Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.99909187
67Long-term depression_Homo sapiens_hsa047300.98963021
68Selenocompound metabolism_Homo sapiens_hsa004500.98415074
69Retinol metabolism_Homo sapiens_hsa008300.97692568
70Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.97462194
71Histidine metabolism_Homo sapiens_hsa003400.97269643
72Glucagon signaling pathway_Homo sapiens_hsa049220.96970471
73Cholinergic synapse_Homo sapiens_hsa047250.95880090
74Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.93977712
75Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.93806218
76Insulin resistance_Homo sapiens_hsa049310.93183715
77Vitamin B6 metabolism_Homo sapiens_hsa007500.93062458
78AMPK signaling pathway_Homo sapiens_hsa041520.92119953
79Drug metabolism - other enzymes_Homo sapiens_hsa009830.91137838
80Cysteine and methionine metabolism_Homo sapiens_hsa002700.89914727
81Gastric acid secretion_Homo sapiens_hsa049710.88905095
82cAMP signaling pathway_Homo sapiens_hsa040240.83098231
83Lysine degradation_Homo sapiens_hsa003100.82819717
84Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.82205499
85Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.80136803
86Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.79254709
87Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.68868211
88Dopaminergic synapse_Homo sapiens_hsa047280.68141577
89Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.67422826
90Pentose phosphate pathway_Homo sapiens_hsa000300.66652370
91Insulin signaling pathway_Homo sapiens_hsa049100.66111062
92Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.64163535
93Fructose and mannose metabolism_Homo sapiens_hsa000510.63940025
94Ether lipid metabolism_Homo sapiens_hsa005650.63232251
95Arginine and proline metabolism_Homo sapiens_hsa003300.63066906
96Cocaine addiction_Homo sapiens_hsa050300.58647477
97Intestinal immune network for IgA production_Homo sapiens_hsa046720.57709641
98Sulfur relay system_Homo sapiens_hsa041220.56776801
99Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.56086776
100Amphetamine addiction_Homo sapiens_hsa050310.55698553
101Synaptic vesicle cycle_Homo sapiens_hsa047210.53747426
102alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.52959325
103MAPK signaling pathway_Homo sapiens_hsa040100.52278391
104Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.51391774
105Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.50867866
106Pancreatic secretion_Homo sapiens_hsa049720.49181363
107Phosphatidylinositol signaling system_Homo sapiens_hsa040700.47646458
108Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.47509221
109Galactose metabolism_Homo sapiens_hsa000520.45534398
110Maturity onset diabetes of the young_Homo sapiens_hsa049500.44015252
111* Glycerophospholipid metabolism_Homo sapiens_hsa005640.43669042
112* Metabolic pathways_Homo sapiens_hsa011000.42385219
113Regulation of autophagy_Homo sapiens_hsa041400.41543724
114Platelet activation_Homo sapiens_hsa046110.39196100
115Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38966519
116Inositol phosphate metabolism_Homo sapiens_hsa005620.38926600
117Cardiac muscle contraction_Homo sapiens_hsa042600.38238107
118Linoleic acid metabolism_Homo sapiens_hsa005910.36775020
119Folate biosynthesis_Homo sapiens_hsa007900.32255164
120Vitamin digestion and absorption_Homo sapiens_hsa049770.31821921
121Glutathione metabolism_Homo sapiens_hsa004800.31322137
122Steroid biosynthesis_Homo sapiens_hsa001000.28475704
123Central carbon metabolism in cancer_Homo sapiens_hsa052300.27803612
124Type II diabetes mellitus_Homo sapiens_hsa049300.25610398
125Longevity regulating pathway - mammal_Homo sapiens_hsa042110.24940348
126Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.22160480
127Carbohydrate digestion and absorption_Homo sapiens_hsa049730.21937938
128Dilated cardiomyopathy_Homo sapiens_hsa054140.21260636
129Prion diseases_Homo sapiens_hsa050200.17423842
130Parkinsons disease_Homo sapiens_hsa050120.12575574
131Oxidative phosphorylation_Homo sapiens_hsa001900.11224026
132Circadian rhythm_Homo sapiens_hsa047100.07730286
133Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.06283700
134Alzheimers disease_Homo sapiens_hsa050100.06256564
135Renin secretion_Homo sapiens_hsa049240.06059468
136Cyanoamino acid metabolism_Homo sapiens_hsa004600.02182759
137Protein digestion and absorption_Homo sapiens_hsa04974-0.0634504
138mTOR signaling pathway_Homo sapiens_hsa04150-0.0617157
139Huntingtons disease_Homo sapiens_hsa05016-0.0574840
140Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0269708
141Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261-0.0117030
142cGMP-PKG signaling pathway_Homo sapiens_hsa04022-0.0006045

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