PNPLA1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.58750274
2L-phenylalanine catabolic process (GO:0006559)6.58750274
3aromatic amino acid family catabolic process (GO:0009074)6.32745766
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.24117479
5L-phenylalanine metabolic process (GO:0006558)6.24117479
6indole-containing compound catabolic process (GO:0042436)6.16744942
7indolalkylamine catabolic process (GO:0046218)6.16744942
8tryptophan catabolic process (GO:0006569)6.16744942
9tryptophan metabolic process (GO:0006568)5.82553120
10kynurenine metabolic process (GO:0070189)5.61162848
11triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.48638971
12urea cycle (GO:0000050)5.37211965
13urea metabolic process (GO:0019627)5.37211965
14bile acid biosynthetic process (GO:0006699)5.26797016
15high-density lipoprotein particle remodeling (GO:0034375)5.21713240
16protein carboxylation (GO:0018214)5.05379481
17peptidyl-glutamic acid carboxylation (GO:0017187)5.05379481
18homocysteine metabolic process (GO:0050667)4.99186394
19nitrogen cycle metabolic process (GO:0071941)4.87749998
20response to pheromone (GO:0019236)4.79849998
21glyoxylate metabolic process (GO:0046487)4.74903545
22imidazole-containing compound metabolic process (GO:0052803)4.73718949
23amino-acid betaine metabolic process (GO:0006577)4.72052566
24complement activation, alternative pathway (GO:0006957)4.70698430
25regulation of protein activation cascade (GO:2000257)4.66429735
26fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.61349020
27phospholipid efflux (GO:0033700)4.60029466
28sulfur amino acid catabolic process (GO:0000098)4.58324635
29aromatic amino acid family metabolic process (GO:0009072)4.56667512
30indolalkylamine metabolic process (GO:0006586)4.54812964
31bile acid metabolic process (GO:0008206)4.53449698
32reverse cholesterol transport (GO:0043691)4.44714335
33negative regulation of fibrinolysis (GO:0051918)4.43121014
34cysteine metabolic process (GO:0006534)4.42004541
35regulation of triglyceride catabolic process (GO:0010896)4.39298082
36regulation of fibrinolysis (GO:0051917)4.37955555
37serine family amino acid catabolic process (GO:0009071)4.37179090
38regulation of complement activation (GO:0030449)4.36042927
39alpha-linolenic acid metabolic process (GO:0036109)4.32665954
40plasma lipoprotein particle remodeling (GO:0034369)4.32451999
41protein-lipid complex remodeling (GO:0034368)4.32451999
42macromolecular complex remodeling (GO:0034367)4.32451999
43molting cycle (GO:0042303)4.32055643
44hair cycle (GO:0042633)4.32055643
45amine catabolic process (GO:0009310)4.29149565
46cellular biogenic amine catabolic process (GO:0042402)4.29149565
47DNA deamination (GO:0045006)4.24984307
48behavioral response to nicotine (GO:0035095)4.23945950
49triglyceride homeostasis (GO:0070328)4.23429864
50acylglycerol homeostasis (GO:0055090)4.23429864
51tyrosine metabolic process (GO:0006570)4.18574197
52regulation of cholesterol esterification (GO:0010872)4.11194223
53negative regulation of cholesterol transport (GO:0032375)4.09999522
54negative regulation of sterol transport (GO:0032372)4.09999522
55fibrinolysis (GO:0042730)4.09475557
56fucose catabolic process (GO:0019317)3.98050680
57L-fucose metabolic process (GO:0042354)3.98050680
58L-fucose catabolic process (GO:0042355)3.98050680
59alpha-amino acid catabolic process (GO:1901606)3.97788511
60platelet dense granule organization (GO:0060155)3.97649880
61bile acid and bile salt transport (GO:0015721)3.96657189
62linoleic acid metabolic process (GO:0043651)3.96285685
63coenzyme catabolic process (GO:0009109)3.90107594
64cholesterol efflux (GO:0033344)3.85230678
65establishment of skin barrier (GO:0061436)3.80164083
66keratinization (GO:0031424)3.79497781
67plasma lipoprotein particle clearance (GO:0034381)3.79380379
68NAD biosynthetic process (GO:0009435)3.77762136
69urate metabolic process (GO:0046415)3.77502845
70cellular glucuronidation (GO:0052695)3.77322543
71carnitine metabolic process (GO:0009437)3.76701648
72lysine metabolic process (GO:0006553)3.74752942
73lysine catabolic process (GO:0006554)3.74752942
74negative regulation of lipase activity (GO:0060192)3.73571300
75drug catabolic process (GO:0042737)3.73073080
76arginine metabolic process (GO:0006525)3.63832779
77benzene-containing compound metabolic process (GO:0042537)3.62283367
78pyridine nucleotide biosynthetic process (GO:0019363)3.59813037
79nicotinamide nucleotide biosynthetic process (GO:0019359)3.59813037
80cellular amino acid catabolic process (GO:0009063)3.59242207
81glutamate metabolic process (GO:0006536)3.55663612
82plasma lipoprotein particle assembly (GO:0034377)3.54293533
83cellular ketone body metabolic process (GO:0046950)3.54181141
84negative regulation of interleukin-1 production (GO:0032692)3.53944926
85complement activation (GO:0006956)3.52117367
86regulation of bile acid biosynthetic process (GO:0070857)3.50429604
87phospholipid homeostasis (GO:0055091)3.50329673
88drug transmembrane transport (GO:0006855)3.50185314
89positive regulation of triglyceride lipase activity (GO:0061365)3.47221013
90positive regulation of lipoprotein lipase activity (GO:0051006)3.47221013
91positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.45647471
92very-low-density lipoprotein particle assembly (GO:0034379)3.45282251
93cofactor catabolic process (GO:0051187)3.41828610
94dicarboxylic acid biosynthetic process (GO:0043650)3.40760245
95cellular modified amino acid catabolic process (GO:0042219)3.40130000
96negative regulation of interleukin-1 beta production (GO:0032691)3.37812166
97protein activation cascade (GO:0072376)3.36950427
98cholesterol homeostasis (GO:0042632)3.36947982
99complement activation, classical pathway (GO:0006958)3.35920279
100plasma lipoprotein particle organization (GO:0071827)3.35800322
101low-density lipoprotein particle remodeling (GO:0034374)3.35110081
102aldehyde catabolic process (GO:0046185)3.31393325
103sterol homeostasis (GO:0055092)3.31052855
104glucuronate metabolic process (GO:0019585)3.29919563
105uronic acid metabolic process (GO:0006063)3.29919563
106serine family amino acid metabolic process (GO:0009069)3.29340841
107positive regulation of lipid catabolic process (GO:0050996)3.28758438
108desmosome organization (GO:0002934)3.28459169
109exogenous drug catabolic process (GO:0042738)3.28347382
110regulation of memory T cell differentiation (GO:0043380)3.10324941
111positive regulation of defense response to virus by host (GO:0002230)3.06199085
112phosphatidylinositol acyl-chain remodeling (GO:0036149)2.98344985
113regulation of interleukin-6 biosynthetic process (GO:0045408)2.87563395
114water-soluble vitamin biosynthetic process (GO:0042364)2.85142456
115cytidine metabolic process (GO:0046087)2.84569217
116cytidine catabolic process (GO:0006216)2.84569217
117cytidine deamination (GO:0009972)2.84569217
118detection of light stimulus involved in visual perception (GO:0050908)2.82634804
119detection of light stimulus involved in sensory perception (GO:0050962)2.82634804
120positive regulation of interleukin-1 beta secretion (GO:0050718)2.78213253
121positive regulation of prostaglandin secretion (GO:0032308)2.77113056
122detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.76188606
123negative regulation of mast cell activation (GO:0033004)2.74504225
124adaptation of signaling pathway (GO:0023058)2.71220479
125regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.69784524
126neural tube formation (GO:0001841)2.64990395
127piRNA metabolic process (GO:0034587)2.63344771
128regulation of MHC class II biosynthetic process (GO:0045346)2.59951339
129regulation of interleukin-1 beta secretion (GO:0050706)2.59698455
130negative regulation of telomere maintenance (GO:0032205)2.59291531
131positive regulation of interleukin-1 secretion (GO:0050716)2.57880369
132inositol phosphate catabolic process (GO:0071545)2.54028664
133positive regulation of oligodendrocyte differentiation (GO:0048714)2.52971562
134positive regulation of T cell mediated cytotoxicity (GO:0001916)2.50216330
135polyol catabolic process (GO:0046174)2.49206209
136indole-containing compound metabolic process (GO:0042430)2.49106001
137photoreceptor cell maintenance (GO:0045494)2.49010094
138pyrimidine ribonucleoside catabolic process (GO:0046133)2.48112276
139interferon-gamma production (GO:0032609)2.45070380
140rRNA catabolic process (GO:0016075)2.43507156
141positive regulation of fatty acid transport (GO:2000193)2.43460054
142neutrophil mediated immunity (GO:0002446)2.42961968
143neutrophil activation (GO:0042119)2.40851468
144positive regulation of T-helper 1 type immune response (GO:0002827)2.40676750
145respiratory chain complex IV assembly (GO:0008535)2.40100816
146axoneme assembly (GO:0035082)2.39408160
147preassembly of GPI anchor in ER membrane (GO:0016254)2.38144330
148protein polyglutamylation (GO:0018095)2.37539532
149regulation of heat generation (GO:0031650)2.37164178
150cell wall macromolecule catabolic process (GO:0016998)2.36338432
151positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.34799704
152regulation of glucokinase activity (GO:0033131)2.34158803
153regulation of hexokinase activity (GO:1903299)2.34158803
154mast cell activation (GO:0045576)2.33949186
155regulation of T cell mediated cytotoxicity (GO:0001914)2.33916136
156pyrimidine nucleobase catabolic process (GO:0006208)2.32443432
157protein K11-linked deubiquitination (GO:0035871)2.30428495
158positive regulation of heat generation (GO:0031652)2.29837621
159cellular response to interleukin-15 (GO:0071350)2.29823443
160retinal cone cell development (GO:0046549)2.28883383
161regulation of defense response to virus by host (GO:0050691)2.28237550
162magnesium ion transport (GO:0015693)2.27934023
163negative regulation of interleukin-12 production (GO:0032695)2.27045501
164DNA methylation involved in gamete generation (GO:0043046)2.25711252
165inositol phosphate dephosphorylation (GO:0046855)2.25528661
166phosphorylated carbohydrate dephosphorylation (GO:0046838)2.25528661
167arginine catabolic process (GO:0006527)2.24088901
168nitric oxide mediated signal transduction (GO:0007263)2.22573568
169positive regulation of organic acid transport (GO:0032892)2.22562216
170DNA demethylation (GO:0080111)2.20939726
171superoxide anion generation (GO:0042554)2.20663278
172positive regulation of NF-kappaB import into nucleus (GO:0042346)2.20511144
173protein complex biogenesis (GO:0070271)2.19590487
174ketone body metabolic process (GO:1902224)2.19380696
175regulation of action potential (GO:0098900)2.18881047
176regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.18699648
177regulation of cilium movement (GO:0003352)2.18057200
178mannosylation (GO:0097502)2.17767559
179multicellular organism reproduction (GO:0032504)2.17759343
180mast cell degranulation (GO:0043303)2.17398762
181mast cell activation involved in immune response (GO:0002279)2.17398762
182positive regulation of mast cell activation (GO:0033005)2.17237063
183response to interferon-beta (GO:0035456)2.16168140
184phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.15996082
185cornea development in camera-type eye (GO:0061303)2.15932593
186regulation of B cell receptor signaling pathway (GO:0050855)2.14620780
187RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.14137369
188epithelial cilium movement (GO:0003351)2.13972314
189synaptic transmission, cholinergic (GO:0007271)2.13736664
190positive regulation of toll-like receptor signaling pathway (GO:0034123)2.13638971

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse8.51973677
2EGR1_23403033_ChIP-Seq_LIVER_Mouse6.38631789
3RXR_22158963_ChIP-Seq_LIVER_Mouse6.35285182
4PPARA_22158963_ChIP-Seq_LIVER_Mouse5.43821752
5LXR_22158963_ChIP-Seq_LIVER_Mouse4.94025741
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.33522351
7TP63_17297297_ChIP-ChIP_HaCaT_Human4.09443829
8ZNF274_21170338_ChIP-Seq_K562_Hela4.03578635
9CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.97350650
10NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.13590615
11CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.87523692
12VDR_22108803_ChIP-Seq_LS180_Human2.86116739
13IGF1R_20145208_ChIP-Seq_DFB_Human2.79399177
14PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.54738303
15TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.50998848
16HTT_18923047_ChIP-ChIP_STHdh_Human2.16919511
17POU3F2_20337985_ChIP-ChIP_501MEL_Human2.15343199
18IRF8_22096565_ChIP-ChIP_GC-B_Human2.00543681
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.97013749
20EZH2_22144423_ChIP-Seq_EOC_Human1.95986867
21IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.95253232
22ER_23166858_ChIP-Seq_MCF-7_Human1.92524710
23P300_19829295_ChIP-Seq_ESCs_Human1.85969455
24CTBP2_25329375_ChIP-Seq_LNCAP_Human1.84997370
25EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.77889959
26EWS_26573619_Chip-Seq_HEK293_Human1.77228466
27CTBP1_25329375_ChIP-Seq_LNCAP_Human1.76803901
28KAP1_22055183_ChIP-Seq_ESCs_Mouse1.74608366
29HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.73508591
30FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.71037806
31NOTCH1_21737748_ChIP-Seq_TLL_Human1.71016948
32FUS_26573619_Chip-Seq_HEK293_Human1.68393795
33RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.67225851
34STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.62177105
35TP53_22573176_ChIP-Seq_HFKS_Human1.62065124
36STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.56529576
37LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.55662812
38Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.48255833
39GATA3_26560356_Chip-Seq_TH2_Human1.45514268
40TAF15_26573619_Chip-Seq_HEK293_Human1.43339291
41MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.42957103
42CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.42874593
43SUZ12_27294783_Chip-Seq_NPCs_Mouse1.42647430
44NFE2_27457419_Chip-Seq_LIVER_Mouse1.42581013
45UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.40606554
46TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.38199582
47IRF1_19129219_ChIP-ChIP_H3396_Human1.36274656
48NANOG_19829295_ChIP-Seq_ESCs_Human1.35433481
49SOX2_19829295_ChIP-Seq_ESCs_Human1.35433481
50MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.34792801
51STAT3_23295773_ChIP-Seq_U87_Human1.33894587
52POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.33641680
53TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33641680
54SALL1_21062744_ChIP-ChIP_HESCs_Human1.31366562
55AR_25329375_ChIP-Seq_VCAP_Human1.30773061
56IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.30726841
57CBP_20019798_ChIP-Seq_JUKART_Human1.30726841
58GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.28978715
59SMAD4_21799915_ChIP-Seq_A2780_Human1.28702970
60ETV2_25802403_ChIP-Seq_MESCs_Mouse1.27445941
61EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.26221317
62EZH2_27294783_Chip-Seq_NPCs_Mouse1.25089855
63TCF4_22108803_ChIP-Seq_LS180_Human1.24833727
64FOXA1_27270436_Chip-Seq_PROSTATE_Human1.23586708
65FOXA1_25329375_ChIP-Seq_VCAP_Human1.23586708
66* GATA3_21878914_ChIP-Seq_MCF-7_Human1.23364196
67SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.22907926
68BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.22442725
69GABP_17652178_ChIP-ChIP_JURKAT_Human1.22169074
70TCF4_23295773_ChIP-Seq_U87_Human1.21088206
71PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.20681571
72NR3C1_21868756_ChIP-Seq_MCF10A_Human1.20650247
73PRDM14_20953172_ChIP-Seq_ESCs_Human1.20264162
74RXRA_24833708_ChIP-Seq_LIVER_Mouse1.20010817
75FOXA2_19822575_ChIP-Seq_HepG2_Human1.18009505
76HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.17773337
77NCOR_22424771_ChIP-Seq_293T_Human1.16878776
78IRF8_21731497_ChIP-ChIP_J774_Mouse1.16851747
79* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15214828
80REST_21632747_ChIP-Seq_MESCs_Mouse1.14485788
81RUNX2_22187159_ChIP-Seq_PCA_Human1.14473221
82HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.12446875
83PCGF2_27294783_Chip-Seq_ESCs_Mouse1.11865389
84CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.11675786
85* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.11508193
86FOXA1_21572438_ChIP-Seq_LNCaP_Human1.11202827
87SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.10253100
88PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.09545314
89MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.08801399
90KLF5_20875108_ChIP-Seq_MESCs_Mouse1.08735684
91MYC_18940864_ChIP-ChIP_HL60_Human1.08148147
92HOXB7_26014856_ChIP-Seq_BT474_Human1.07026816
93GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.06619612
94STAT1_17558387_ChIP-Seq_HELA_Human1.06506779
95CRX_20693478_ChIP-Seq_RETINA_Mouse1.06000819
96FLI1_21867929_ChIP-Seq_TH2_Mouse1.05822423
97EST1_17652178_ChIP-ChIP_JURKAT_Human1.04781153
98SMRT_27268052_Chip-Seq_Bcells_Human1.04356775
99RUNX_20019798_ChIP-Seq_JUKART_Human1.03441512
100VDR_23849224_ChIP-Seq_CD4+_Human1.03061447
101KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.02933992
102SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02770457
103TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.02571620
104MYC_19829295_ChIP-Seq_ESCs_Human1.02306028
105NANOG_20526341_ChIP-Seq_ESCs_Human1.02267135
106OCT4_21477851_ChIP-Seq_ESCs_Mouse1.01926724
107PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.01804931
108* SMAD4_21741376_ChIP-Seq_EPCs_Human1.01406881
109HNF4A_19822575_ChIP-Seq_HepG2_Human1.00804159
110BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.00489760
111VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.99993136
112PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.99921178
113BP1_19119308_ChIP-ChIP_Hs578T_Human0.99808045
114GATA1_22025678_ChIP-Seq_K562_Human0.99580668
115GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99537626
116* GATA4_25053715_ChIP-Seq_YYC3_Human0.97641620
117ZFP57_27257070_Chip-Seq_ESCs_Mouse0.95910434
118TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95524352
119RUNX1_27457419_Chip-Seq_LIVER_Mouse0.95297783
120FLI1_27457419_Chip-Seq_LIVER_Mouse0.94621183
121AUTS2_25519132_ChIP-Seq_293T-REX_Human0.94132653
122RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.93801936
123PCGF2_27294783_Chip-Seq_NPCs_Mouse0.92613612
124PU1_27457419_Chip-Seq_LIVER_Mouse0.92043087
125SMAD1_18555785_Chip-Seq_ESCs_Mouse0.90875825
126PIAS1_25552417_ChIP-Seq_VCAP_Human0.90828812
127EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.90779438
128OCT4_18555785_Chip-Seq_ESCs_Mouse0.89319828
129GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.89064866
130P53_22387025_ChIP-Seq_ESCs_Mouse0.88418519
131ESRRB_18555785_Chip-Seq_ESCs_Mouse0.88120527
132ESR1_21235772_ChIP-Seq_MCF-7_Human0.87674510
133SUZ12_18555785_Chip-Seq_ESCs_Mouse0.87079334
134EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.85608731
135NMYC_18555785_Chip-Seq_ESCs_Mouse0.84270518
136AR_20517297_ChIP-Seq_VCAP_Human0.83987779
137TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.83848904
138STAT3_18555785_Chip-Seq_ESCs_Mouse0.83523682
139CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.82557169
140SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.82058669
141EGR1_19032775_ChIP-ChIP_M12_Human0.81903363
142IRF8_27001747_Chip-Seq_BMDM_Mouse0.80200653
143IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.78511221
144GATA6_21074721_ChIP-Seq_CACO-2_Human0.78121166
145SOX9_24532713_ChIP-Seq_HFSC_Mouse0.78092153
146* TP63_23658742_ChIP-Seq_EP156T_Human0.77999828
147CTCF_18555785_Chip-Seq_ESCs_Mouse0.77158880
148KLF4_18555785_Chip-Seq_ESCs_Mouse0.77047296
149NANOG_18555785_Chip-Seq_ESCs_Mouse0.76990428
150SOX2_18555785_Chip-Seq_ESCs_Mouse0.76876557
151ZFX_18555785_Chip-Seq_ESCs_Mouse0.75963655
152CEBPB_22108803_ChIP-Seq_LS180_Human0.75096027
153HNFA_21074721_ChIP-Seq_CACO-2_Human0.74599440
154PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.74591589
155E2F1_18555785_Chip-Seq_ESCs_Mouse0.74540528
156FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.73558809
157CMYC_18555785_Chip-Seq_ESCs_Mouse0.72646106
158GBX2_23144817_ChIP-Seq_PC3_Human0.72373429
159P300_18555785_Chip-Seq_ESCs_Mouse0.71926004
160TAL1_26923725_Chip-Seq_HPCs_Mouse0.71485529
161BCAT_22108803_ChIP-Seq_LS180_Human0.70897129
162KDM2B_26808549_Chip-Seq_REH_Human0.70539200
163GATA3_21867929_ChIP-Seq_TH1_Mouse0.69725827
164TAF2_19829295_ChIP-Seq_ESCs_Human0.69440355
165AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.66574052
166STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.66456025
167FOXM1_26456572_ChIP-Seq_MCF-7_Human0.66354614
168TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.66264157
169CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.65580476
170BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.65225353
171FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.65039833
172ESET_19884257_ChIP-Seq_ESCs_Mouse0.64672663
173NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.63949213
174AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.63672855

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.16550860
2MP0005360_urolithiasis6.53076175
3MP0005085_abnormal_gallbladder_physiolo5.47942595
4MP0005365_abnormal_bile_salt5.26424272
5MP0008875_abnormal_xenobiotic_pharmacok4.08878946
6MP0003252_abnormal_bile_duct3.47875762
7MP0000579_abnormal_nail_morphology3.23507412
8MP0002796_impaired_skin_barrier3.12711999
9MP0003806_abnormal_nucleotide_metabolis2.89763684
10MP0005451_abnormal_body_composition2.88561646
11MP0000569_abnormal_digit_pigmentation2.84872088
12MP0010329_abnormal_lipoprotein_level2.82387844
13MP0003195_calcinosis2.59763866
14MP0008877_abnormal_DNA_methylation2.55135373
15MP0004019_abnormal_vitamin_homeostasis2.43692129
16MP0002254_reproductive_system_inflammat2.26399778
17MP0009840_abnormal_foam_cell2.24352363
18MP0002102_abnormal_ear_morphology2.22660196
19MP0005332_abnormal_amino_acid2.20590263
20MP0003191_abnormal_cellular_cholesterol2.14065608
21MP0003787_abnormal_imprinting2.09333930
22MP0001666_abnormal_nutrient_absorption2.07993816
23MP0005671_abnormal_response_to2.06969466
24MP0008872_abnormal_physiological_respon2.05774185
25MP0003646_muscle_fatigue2.00865265
26MP0005645_abnormal_hypothalamus_physiol1.98804087
27MP0002837_dystrophic_cardiac_calcinosis1.96139605
28MP0004381_abnormal_hair_follicle1.95106521
29MP0000372_irregular_coat_pigmentation1.94428984
30MP0005551_abnormal_eye_electrophysiolog1.91592549
31MP0002138_abnormal_hepatobiliary_system1.91441774
32MP0001968_abnormal_touch/_nociception1.87313768
33MP0005083_abnormal_biliary_tract1.83455881
34MP0005275_abnormal_skin_tensile1.83150398
35MP0000383_abnormal_hair_follicle1.80890626
36MP0004885_abnormal_endolymph1.80021371
37MP0009697_abnormal_copulation1.77237438
38MP0002277_abnormal_respiratory_mucosa1.74726190
39MP0006072_abnormal_retinal_apoptosis1.74463774
40MP0005501_abnormal_skin_physiology1.74029159
41MP0005167_abnormal_blood-brain_barrier1.70253264
42MP0000609_abnormal_liver_physiology1.69947606
43MP0002098_abnormal_vibrissa_morphology1.67085652
44MP0009764_decreased_sensitivity_to1.66046476
45MP0002118_abnormal_lipid_homeostasis1.64648092
46MP0004043_abnormal_pH_regulation1.63597566
47MP0004142_abnormal_muscle_tone1.59123984
48MP0004947_skin_inflammation1.57890837
49MP0001501_abnormal_sleep_pattern1.56363313
50MP0009046_muscle_twitch1.56256988
51MP0002736_abnormal_nociception_after1.55647684
52MP0005253_abnormal_eye_physiology1.55114270
53MP0000427_abnormal_hair_cycle1.54564711
54MP0001986_abnormal_taste_sensitivity1.53979200
55MP0001216_abnormal_epidermal_layer1.52154519
56MP0003436_decreased_susceptibility_to1.50110532
57MP0000685_abnormal_immune_system1.49346674
58MP0002060_abnormal_skin_morphology1.47966563
59MP0003303_peritoneal_inflammation1.45179387
60MP0001764_abnormal_homeostasis1.44803816
61MP0005000_abnormal_immune_tolerance1.40946378
62MP0010678_abnormal_skin_adnexa1.39658079
63MP0009745_abnormal_behavioral_response1.38984164
64MP0000647_abnormal_sebaceous_gland1.38965368
65MP0003868_abnormal_feces_composition1.38935865
66MP0005319_abnormal_enzyme/_coenzyme1.36683285
67MP0005646_abnormal_pituitary_gland1.36352369
68MP0005075_abnormal_melanosome_morpholog1.35525214
69MP0002653_abnormal_ependyma_morphology1.35464501
70MP0002723_abnormal_immune_serum1.34621837
71MP0005174_abnormal_tail_pigmentation1.34168954
72MP0010234_abnormal_vibrissa_follicle1.29740201
73MP0003011_delayed_dark_adaptation1.28161737
74MP0000015_abnormal_ear_pigmentation1.26474244
75MP0002095_abnormal_skin_pigmentation1.24434764
76MP0000377_abnormal_hair_follicle1.19648296
77MP0002452_abnormal_antigen_presenting1.18312787
78MP0005647_abnormal_sex_gland1.15681319
79MP0003705_abnormal_hypodermis_morpholog1.14927483
80MP0003186_abnormal_redox_activity1.14630827
81MP0003453_abnormal_keratinocyte_physiol1.14463165
82MP0010771_integument_phenotype1.12720233
83MP0002420_abnormal_adaptive_immunity1.11608721
84MP0002693_abnormal_pancreas_physiology1.11601570
85MP0002272_abnormal_nervous_system1.10964332
86MP0002638_abnormal_pupillary_reflex1.10478638
87MP0006276_abnormal_autonomic_nervous1.10184014
88MP0001819_abnormal_immune_cell1.09490436
89MP0004782_abnormal_surfactant_physiolog1.08541298
90MP0005584_abnormal_enzyme/coenzyme_acti1.08053368
91MP0010386_abnormal_urinary_bladder1.03247377
92MP0001970_abnormal_pain_threshold1.02499562
93MP0005410_abnormal_fertilization1.01934296
94MP0003880_abnormal_central_pattern1.00587406
95MP0009643_abnormal_urine_homeostasis0.98744081
96MP0003724_increased_susceptibility_to0.98586854
97MP0002733_abnormal_thermal_nociception0.97507809
98MP0002876_abnormal_thyroid_physiology0.97488227
99MP0004742_abnormal_vestibular_system0.96501860
100MP0009785_altered_susceptibility_to0.96309063
101MP0009763_increased_sensitivity_to0.95040042
102MP0008469_abnormal_protein_level0.93510989
103MP0003878_abnormal_ear_physiology0.93360628
104MP0005377_hearing/vestibular/ear_phenot0.93360628
105MP0002735_abnormal_chemical_nociception0.92737740
106MP0002572_abnormal_emotion/affect_behav0.91100542
107MP0001486_abnormal_startle_reflex0.91059360
108MP0006292_abnormal_olfactory_placode0.90466889
109MP0002064_seizures0.90136800
110MP0002132_abnormal_respiratory_system0.90093767
111MP0005636_abnormal_mineral_homeostasis0.89326003
112MP0001191_abnormal_skin_condition0.87562294
113MP0004147_increased_porphyrin_level0.86966744
114MP0000467_abnormal_esophagus_morphology0.86925811
115MP0002405_respiratory_system_inflammati0.86743408
116MP0001485_abnormal_pinna_reflex0.85803138
117MP0005386_behavior/neurological_phenoty0.85065170
118MP0004924_abnormal_behavior0.85065170
119MP0009931_abnormal_skin_appearance0.82914493
120MP0005310_abnormal_salivary_gland0.82488885
121MP0000367_abnormal_coat/_hair0.81905001
122MP0001905_abnormal_dopamine_level0.81607708
123MP0001243_abnormal_dermal_layer0.81418628
124MP0000230_abnormal_systemic_arterial0.80645067
125MP0001346_abnormal_lacrimal_gland0.80159944
126MP0001835_abnormal_antigen_presentation0.79854383
127MP0005408_hypopigmentation0.79447083
128MP0003656_abnormal_erythrocyte_physiolo0.79328717
129MP0005464_abnormal_platelet_physiology0.78787331
130MP0001529_abnormal_vocalization0.78373618
131MP0000598_abnormal_liver_morphology0.78164150
132MP0001533_abnormal_skeleton_physiology0.76494254
133MP0001919_abnormal_reproductive_system0.76210412
134MP0002229_neurodegeneration0.75014950
135MP0002163_abnormal_gland_morphology0.74071341
136MP0001984_abnormal_olfaction0.73769588
137MP0002006_tumorigenesis0.73752370
138MP0005389_reproductive_system_phenotype0.73160496
139MP0009765_abnormal_xenobiotic_induced0.72342786
140MP0005025_abnormal_response_to0.71741410
141MP0001661_extended_life_span0.71421282
142MP0002148_abnormal_hypersensitivity_rea0.70265697
143MP0009642_abnormal_blood_homeostasis0.70213097
144MP0000566_synostosis0.68940164
145MP0002419_abnormal_innate_immunity0.65670400
146MP0009053_abnormal_anal_canal0.64198480
147MP0001845_abnormal_inflammatory_respons0.61852156
148MP0002928_abnormal_bile_duct0.60045992
149MP0002136_abnormal_kidney_physiology0.58186482
150MP0001790_abnormal_immune_system0.56363635
151MP0005387_immune_system_phenotype0.56363635
152MP0003718_maternal_effect0.56050017
153MP0005220_abnormal_exocrine_pancreas0.55759359
154MP0005084_abnormal_gallbladder_morpholo0.54613832
155MP0005248_abnormal_Harderian_gland0.54086113
156MP0003941_abnormal_skin_development0.52835742
157MP0001853_heart_inflammation0.52022173
158MP0000538_abnormal_urinary_bladder0.50790542
159MP0005395_other_phenotype0.50780974
160MP0002971_abnormal_brown_adipose0.50595271
161MP0005535_abnormal_body_temperature0.50372697
162MP0004264_abnormal_extraembryonic_tissu0.47634904
163MP0003075_altered_response_to0.46855707
164MP0002078_abnormal_glucose_homeostasis0.46206667
165MP0005334_abnormal_fat_pad0.46013277
166MP0008260_abnormal_autophagy0.45760650
167MP0003638_abnormal_response/metabolism_0.45596211
168MP0006082_CNS_inflammation0.44681252
169MP0001188_hyperpigmentation0.43324312
170MP0001800_abnormal_humoral_immune0.43054570

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)6.45247351
2Abnormality of aromatic amino acid family metabolism (HP:0004338)6.42505051
3Deep venous thrombosis (HP:0002625)6.04498903
4Prolonged partial thromboplastin time (HP:0003645)5.76444770
5Abnormality of monocarboxylic acid metabolism (HP:0010996)5.53085355
6Xanthomatosis (HP:0000991)5.26113919
7Hypobetalipoproteinemia (HP:0003563)4.92219590
8Hyperlipoproteinemia (HP:0010980)4.74798235
9Stomatitis (HP:0010280)4.54604134
10Joint hemorrhage (HP:0005261)4.51729216
11Complement deficiency (HP:0004431)4.43482220
12Pancreatic cysts (HP:0001737)4.04008078
13Hypolipoproteinemia (HP:0010981)3.93170915
14Abnormality of glutamine family amino acid metabolism (HP:0010902)3.89771423
15Epidermoid cyst (HP:0200040)3.88007750
16Hypoalphalipoproteinemia (HP:0003233)3.75179690
17Abnormality of the common coagulation pathway (HP:0010990)3.67989121
18Congenital stationary night blindness (HP:0007642)3.64917680
19Abnormality of midbrain morphology (HP:0002418)3.62835628
20Molar tooth sign on MRI (HP:0002419)3.62835628
21Recurrent gram-negative bacterial infections (HP:0005420)3.62529049
22Fat malabsorption (HP:0002630)3.59625038
23Hyperammonemia (HP:0001987)3.57891664
24Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.55730854
25Abnormality of sulfur amino acid metabolism (HP:0004339)3.51732386
26Pancreatic fibrosis (HP:0100732)3.49146261
27Abnormality of methionine metabolism (HP:0010901)3.43425489
28Conjugated hyperbilirubinemia (HP:0002908)3.41308884
29Hypotrichosis (HP:0001006)3.39758727
30Abnormality of aspartate family amino acid metabolism (HP:0010899)3.39173822
31Abnormality of complement system (HP:0005339)3.37529268
32Abnormality of pyrimidine metabolism (HP:0004353)3.37464274
33Hypoglycemic coma (HP:0001325)3.36455406
34Abnormality of the intrinsic pathway (HP:0010989)3.34817004
35Hyperglycinemia (HP:0002154)3.33042031
36Ketosis (HP:0001946)3.32436081
37True hermaphroditism (HP:0010459)3.25539405
38Elevated erythrocyte sedimentation rate (HP:0003565)3.23174483
39Attenuation of retinal blood vessels (HP:0007843)3.10886266
40Retrobulbar optic neuritis (HP:0100654)3.09708107
41Optic neuritis (HP:0100653)3.09708107
42Hyperglycinuria (HP:0003108)3.08314054
43Myocardial infarction (HP:0001658)3.06278471
44Palmoplantar hyperkeratosis (HP:0000972)3.04350496
45Abnormality of nail color (HP:0100643)3.03067855
46Abolished electroretinogram (ERG) (HP:0000550)3.02572375
47Vascular calcification (HP:0004934)3.01285445
48Systemic lupus erythematosus (HP:0002725)3.00778957
49Increased IgE level (HP:0003212)2.94313479
50Abnormality of nucleobase metabolism (HP:0010932)2.93226750
51Abnormality of serine family amino acid metabolism (HP:0010894)2.92770627
52Abnormality of glycine metabolism (HP:0010895)2.92770627
53Plantar hyperkeratosis (HP:0007556)2.92352950
54Absent rod-and cone-mediated responses on ERG (HP:0007688)2.91197667
55Hypercholesterolemia (HP:0003124)2.90345494
56Abnormal rod and cone electroretinograms (HP:0008323)2.88918733
57Stomach cancer (HP:0012126)2.88855352
58Palmar hyperkeratosis (HP:0010765)2.87519225
59Erythroderma (HP:0001019)2.87415232
60Nephronophthisis (HP:0000090)2.87026217
61Spontaneous abortion (HP:0005268)2.79708956
62Renal cortical cysts (HP:0000803)2.79437743
63Type II lissencephaly (HP:0007260)2.79180481
64Steatorrhea (HP:0002570)2.76127466
65Hyperbilirubinemia (HP:0002904)2.74449279
66Abnormality of fatty-acid metabolism (HP:0004359)2.74068456
67Myositis (HP:0100614)2.72444868
68Abnormality of purine metabolism (HP:0004352)2.71107989
69Abnormality of the renal medulla (HP:0100957)2.70891100
70Thick nail (HP:0001805)2.70717049
71Orchitis (HP:0100796)2.69459448
72Hypochromic microcytic anemia (HP:0004840)2.69169926
73Abnormality of the renal cortex (HP:0011035)2.68427921
74Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.68239134
75Cardiovascular calcification (HP:0011915)2.63689962
76Pendular nystagmus (HP:0012043)2.60867565
773-Methylglutaconic aciduria (HP:0003535)2.59453673
78Decreased electroretinogram (ERG) amplitude (HP:0000654)2.55361309
79Woolly hair (HP:0002224)2.54224368
80Alopecia of scalp (HP:0002293)2.51698985
81Onycholysis (HP:0001806)2.47486404
82Gangrene (HP:0100758)2.46235633
83Medial flaring of the eyebrow (HP:0010747)2.44914695
84Mitral stenosis (HP:0001718)2.44211546
85Hyperventilation (HP:0002883)2.43550781
86Keratoconjunctivitis (HP:0001096)2.40119799
87Gingival bleeding (HP:0000225)2.36265153
88Dicarboxylic aciduria (HP:0003215)2.35936006
89Abnormality of dicarboxylic acid metabolism (HP:0010995)2.35936006
90Hepatocellular carcinoma (HP:0001402)2.35453400
91Delayed CNS myelination (HP:0002188)2.35396306
92Erythema (HP:0010783)2.32272111
93Decreased central vision (HP:0007663)2.31799563
94Hypoglycemic seizures (HP:0002173)2.31545137
95Furrowed tongue (HP:0000221)2.30400937
96Inability to walk (HP:0002540)2.29378009
97Hypothermia (HP:0002045)2.28643460
98Progressive inability to walk (HP:0002505)2.28558381
99Ketoacidosis (HP:0001993)2.27235609
100Eczematoid dermatitis (HP:0000976)2.27210935
101Gaze-evoked nystagmus (HP:0000640)2.26054487
102Lissencephaly (HP:0001339)2.24090595
103Gout (HP:0001997)2.23901137
104Metabolic acidosis (HP:0001942)2.23157712
105Abnormality of serum amino acid levels (HP:0003112)2.22747716
106Large for gestational age (HP:0001520)2.22227027
107Right ventricular cardiomyopathy (HP:0011663)2.16026275
108Neonatal onset (HP:0003623)2.15853133
109Abnormal drinking behavior (HP:0030082)2.15326537
110Polydipsia (HP:0001959)2.15326537
111Menorrhagia (HP:0000132)2.12334118
112Keratoconjunctivitis sicca (HP:0001097)2.11521585
113Generalized aminoaciduria (HP:0002909)2.10413655
114Episodic fever (HP:0001954)2.07848475
115Constricted visual fields (HP:0001133)2.07076679
116Chronic hepatic failure (HP:0100626)2.05316590
117Abnormal gallbladder morphology (HP:0012437)2.05228397
118Pili torti (HP:0003777)2.04121759
119* Pruritus (HP:0000989)2.03002294
120Agitation (HP:0000713)2.02577927
121Abnormality of proline metabolism (HP:0010907)2.00459962
122Hydroxyprolinuria (HP:0003080)2.00459962
123Keratoconus (HP:0000563)2.00165168
124Increased corneal curvature (HP:0100692)2.00165168
125Encephalitis (HP:0002383)1.99670444
126Amyloidosis (HP:0011034)1.99281737
127Congenital, generalized hypertrichosis (HP:0004540)1.98976248
128Hemiparesis (HP:0001269)1.98634962
129Congenital sensorineural hearing impairment (HP:0008527)1.98213529
130Abnormal enzyme/coenzyme activity (HP:0012379)1.97602005
131Cystic liver disease (HP:0006706)1.97263287
132Enlarged kidneys (HP:0000105)1.96310907
133Optic disc pallor (HP:0000543)1.95084510
134Progressive macrocephaly (HP:0004481)1.94532078
135Cholelithiasis (HP:0001081)1.93429531
136Oral leukoplakia (HP:0002745)1.93340587
137Parakeratosis (HP:0001036)1.93314259
138Acute necrotizing encephalopathy (HP:0006965)1.92161372
139Tubular atrophy (HP:0000092)1.91874910
140Abnormality of macular pigmentation (HP:0008002)1.91327303
141Acanthocytosis (HP:0001927)1.90770422
142Malnutrition (HP:0004395)1.89979254
143Glomerulonephritis (HP:0000099)1.89963022
144Lethargy (HP:0001254)1.89662525
145Recurrent bacterial skin infections (HP:0005406)1.89579126
146Fair hair (HP:0002286)1.89003379
147Abnormal biliary tract physiology (HP:0012439)1.88512760
148Bile duct proliferation (HP:0001408)1.88512760
149Congenital ichthyosiform erythroderma (HP:0007431)1.88410248
150Abnormal delayed hypersensitivity skin test (HP:0002963)1.88337077
151Keratitis (HP:0000491)1.87959263
152Widely spaced teeth (HP:0000687)1.87725605
153Bony spicule pigmentary retinopathy (HP:0007737)1.87612172
154Rickets (HP:0002748)1.87347120
155Thrombophlebitis (HP:0004418)1.87323600
156Conjunctival hamartoma (HP:0100780)1.87292482
157Symptomatic seizures (HP:0011145)1.86998001
158Hypophosphatemic rickets (HP:0004912)1.86765913
159Thyroiditis (HP:0100646)1.86415076
160Chronic mucocutaneous candidiasis (HP:0002728)1.85621713
161Recurrent cutaneous fungal infections (HP:0011370)1.85621713
162Absent speech (HP:0001344)1.84366525
163Mitochondrial inheritance (HP:0001427)1.84166336
164Dynein arm defect of respiratory motile cilia (HP:0012255)1.83694607
165Absent/shortened dynein arms (HP:0200106)1.83694607
166Hypomagnesemia (HP:0002917)1.83623922
167Broad-based gait (HP:0002136)1.82323433
168Febrile seizures (HP:0002373)1.81744894
169Generalized hypopigmentation of hair (HP:0011358)1.81199027
170Polyuria (HP:0000103)1.81133329
171Abnormality of the labia minora (HP:0012880)1.80508179
172Increased CSF lactate (HP:0002490)1.79340713
173Congenital hepatic fibrosis (HP:0002612)1.78814277
174Nephrogenic diabetes insipidus (HP:0009806)1.75175687
175Aplasia/Hypoplasia of the tongue (HP:0010295)1.74693764
176Pachygyria (HP:0001302)1.74669680
177Intestinal atresia (HP:0011100)1.73175356
178Hyperalaninemia (HP:0003348)1.73017846
179Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.73017846
180Abnormality of alanine metabolism (HP:0010916)1.73017846
181Methylmalonic acidemia (HP:0002912)1.72981751
182Gait imbalance (HP:0002141)1.71526040
183Aplasia/Hypoplasia of the tibia (HP:0005772)1.69508649
184Focal motor seizures (HP:0011153)1.68569560
185Photophobia (HP:0000613)1.67160530
186Recurrent fungal infections (HP:0002841)1.65833309
187Congenital primary aphakia (HP:0007707)1.65423197
188Acute encephalopathy (HP:0006846)1.64866689
189Chorioretinal atrophy (HP:0000533)1.62699664
190Vacuolated lymphocytes (HP:0001922)1.62418044

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST1R3.70767214
2ERN13.69805996
3INSRR3.38414258
4BCKDK3.22154039
5PIK3CG3.18944439
6MAP4K22.99548075
7FGFR42.85510391
8STK38L2.59680557
9TAOK32.50304205
10ERBB42.49152933
11SIK12.48338148
12BMPR1B2.36107594
13FRK2.34022819
14LATS12.32024489
15MAP3K142.17068275
16ZAK2.15252556
17ACVR1B1.97677362
18EPHA31.86750847
19TYK21.80922560
20TRPM71.78318621
21MAPK131.76093782
22TBK11.64089225
23TRIM281.62152221
24WNK41.62062913
25IRAK31.58426980
26TLK11.55248692
27AKT31.55170112
28CASK1.53027462
29MAPK111.47044203
30BLK1.43159456
31IKBKE1.41060768
32MAPKAPK31.38553949
33STK241.38440981
34OXSR11.34480617
35EIF2AK31.34212285
36MAP3K31.33526648
37EIF2AK21.30850555
38MAP3K41.29327495
39MAP2K41.27374517
40TNK21.27137066
41ERBB31.24421948
42MET1.24089766
43SGK21.20879311
44TNIK1.19729731
45PAK31.17487389
46SIK31.16189366
47FLT31.16159203
48PRKAA21.13991346
49TXK1.11597563
50ADRBK11.10393929
51JAK11.10370159
52MAP3K61.09341836
53GRK11.08738249
54EPHA21.07632998
55KIT1.04586791
56STK31.03116990
57CAMKK21.00297107
58PTK2B0.99007742
59DYRK20.95265430
60MAP3K70.89860550
61JAK20.88589125
62DAPK20.88116754
63MAPK150.87781021
64CSNK1G20.85138043
65MAP2K70.84949969
66TGFBR10.84792000
67FES0.83856603
68SGK30.83801381
69PRKCE0.83595176
70NUAK10.82546110
71MAP2K60.82196527
72JAK30.81412765
73NTRK30.81199608
74TEC0.79523185
75BCR0.79421058
76WNK30.78501988
77NEK90.78196232
78CSNK1G30.77569021
79ITK0.77324544
80PINK10.77171265
81CHUK0.75642906
82CSK0.74896131
83BRAF0.74601776
84VRK10.74027091
85RIPK10.72722645
86CSNK1G10.72577771
87IKBKB0.72176094
88GRK60.70873581
89PBK0.70139448
90MATK0.69904600
91MARK10.68371810
92PKN10.66823343
93BMPR20.66075221
94MAP4K10.65287128
95PHKG20.65110540
96PHKG10.65110540
97STK390.62941320
98MAP3K130.61609512
99ABL20.59868256
100IRAK40.59867178
101CSNK1A1L0.59656440
102MAPK70.59448473
103YES10.59024443
104MKNK20.58741187
105FGFR20.57517163
106BTK0.57018063
107STK110.56621350
108PLK20.56438145
109SYK0.56085837
110FER0.55155057
111MST40.54727497
112RPS6KA40.53790324
113NME10.53628731
114EIF2AK10.51588296
115STK160.50678944
116PRKAA10.50450414
117CDK30.49947713
118SGK2230.49265299
119SGK4940.49265299
120TAOK10.49094680
121LCK0.48852459
122HCK0.47247893
123MAPK40.46439920
124TGFBR20.46111489
125PRKCG0.45469410
126TIE10.44974727
127FGFR30.43971540
128TAOK20.42896837
129MAP3K110.42597431
130PIK3CA0.42330938
131PRKCI0.42209392
132ADRBK20.41886768
133PRKACG0.41759355
134PTK60.40091593
135RIPK40.39265642
136MAP3K50.38841999
137IRAK10.38822351
138CAMK1D0.38365806
139CAMK10.38287484
140CAMK2A0.38092304
141RPS6KA50.37700232
142PTK20.37688821
143PRKCQ0.37423831
144PLK30.37073765
145CSF1R0.37038948
146PRKCZ0.36899584
147GRK70.36647043
148LYN0.36398625
149PRKACA0.36340767
150NLK0.36250652
151ZAP700.36232046
152CAMK40.35151979
153MAPK120.35003845
154PRKCD0.34462850
155MAP2K30.34227556
156DYRK1B0.33832756
157ERBB20.33784083
158ABL10.31785844

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.45254589
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.21593423
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.13904423
4Arginine biosynthesis_Homo sapiens_hsa002202.87569743
5Complement and coagulation cascades_Homo sapiens_hsa046102.76396263
6Tryptophan metabolism_Homo sapiens_hsa003802.73565984
7Nitrogen metabolism_Homo sapiens_hsa009102.58750143
8Phototransduction_Homo sapiens_hsa047442.48704519
9Histidine metabolism_Homo sapiens_hsa003402.41262171
10Fatty acid degradation_Homo sapiens_hsa000712.38667680
11Staphylococcus aureus infection_Homo sapiens_hsa051502.34699551
12Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.28998713
13Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.26742563
14Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.25726250
15Pentose and glucuronate interconversions_Homo sapiens_hsa000402.23242074
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.22641938
17Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.20171455
18Type I diabetes mellitus_Homo sapiens_hsa049402.19018011
19Steroid hormone biosynthesis_Homo sapiens_hsa001402.14346618
20Peroxisome_Homo sapiens_hsa041462.13842273
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.11314718
22Allograft rejection_Homo sapiens_hsa053302.10704215
23Retinol metabolism_Homo sapiens_hsa008302.07505154
24Chemical carcinogenesis_Homo sapiens_hsa052042.01628375
25Phenylalanine metabolism_Homo sapiens_hsa003602.01222432
26Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.00027119
27Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.99961178
28Butanoate metabolism_Homo sapiens_hsa006501.95932786
29beta-Alanine metabolism_Homo sapiens_hsa004101.94695907
30Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.78552938
31Autoimmune thyroid disease_Homo sapiens_hsa053201.75858745
32NOD-like receptor signaling pathway_Homo sapiens_hsa046211.74580168
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.73187174
34PPAR signaling pathway_Homo sapiens_hsa033201.72305331
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.71757564
36Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.67459332
37Tyrosine metabolism_Homo sapiens_hsa003501.66674093
38Fatty acid metabolism_Homo sapiens_hsa012121.65475973
39Caffeine metabolism_Homo sapiens_hsa002321.61335883
40Oxidative phosphorylation_Homo sapiens_hsa001901.60962944
41Propanoate metabolism_Homo sapiens_hsa006401.60209203
42Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.56980122
43Rheumatoid arthritis_Homo sapiens_hsa053231.56551266
44Drug metabolism - other enzymes_Homo sapiens_hsa009831.56247719
45ABC transporters_Homo sapiens_hsa020101.53531434
46Basal transcription factors_Homo sapiens_hsa030221.49761307
47Primary immunodeficiency_Homo sapiens_hsa053401.47108126
48Fatty acid elongation_Homo sapiens_hsa000621.47060084
49Protein export_Homo sapiens_hsa030601.45633760
50Cyanoamino acid metabolism_Homo sapiens_hsa004601.43582004
51Collecting duct acid secretion_Homo sapiens_hsa049661.41051635
52Selenocompound metabolism_Homo sapiens_hsa004501.35337934
53Folate biosynthesis_Homo sapiens_hsa007901.33795490
54Leishmaniasis_Homo sapiens_hsa051401.30230157
55Vitamin digestion and absorption_Homo sapiens_hsa049771.29660909
56Starch and sucrose metabolism_Homo sapiens_hsa005001.29282115
57Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.27585721
58Olfactory transduction_Homo sapiens_hsa047401.27473661
59Bile secretion_Homo sapiens_hsa049761.25922835
60Homologous recombination_Homo sapiens_hsa034401.24653527
61Steroid biosynthesis_Homo sapiens_hsa001001.21713809
62Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.21339416
63Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.20390097
64Hematopoietic cell lineage_Homo sapiens_hsa046401.18980282
65Sulfur metabolism_Homo sapiens_hsa009201.11647701
66Fat digestion and absorption_Homo sapiens_hsa049751.11191398
67SNARE interactions in vesicular transport_Homo sapiens_hsa041301.09425451
68Maturity onset diabetes of the young_Homo sapiens_hsa049501.09423609
69Parkinsons disease_Homo sapiens_hsa050121.08396850
70Nicotine addiction_Homo sapiens_hsa050331.03605160
71Vitamin B6 metabolism_Homo sapiens_hsa007501.00296173
72alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.97631813
732-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.96706080
74Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.96201078
75Linoleic acid metabolism_Homo sapiens_hsa005910.95650981
76Cysteine and methionine metabolism_Homo sapiens_hsa002700.94434435
77Tuberculosis_Homo sapiens_hsa051520.94369166
78Pyruvate metabolism_Homo sapiens_hsa006200.93462217
79Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.89305540
80Fanconi anemia pathway_Homo sapiens_hsa034600.87720084
81Antigen processing and presentation_Homo sapiens_hsa046120.87308333
82Morphine addiction_Homo sapiens_hsa050320.85613348
83Serotonergic synapse_Homo sapiens_hsa047260.84094299
84Arginine and proline metabolism_Homo sapiens_hsa003300.82299229
85Biosynthesis of amino acids_Homo sapiens_hsa012300.78281286
86Jak-STAT signaling pathway_Homo sapiens_hsa046300.75196153
87Proteasome_Homo sapiens_hsa030500.73895970
88One carbon pool by folate_Homo sapiens_hsa006700.73697420
89Lysine degradation_Homo sapiens_hsa003100.72346836
90Taste transduction_Homo sapiens_hsa047420.71737404
91Carbon metabolism_Homo sapiens_hsa012000.70270950
92Osteoclast differentiation_Homo sapiens_hsa043800.69513120
93Circadian entrainment_Homo sapiens_hsa047130.65959599
94Dorso-ventral axis formation_Homo sapiens_hsa043200.65928124
95RNA polymerase_Homo sapiens_hsa030200.65657194
96Salivary secretion_Homo sapiens_hsa049700.65620529
97Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.65529430
98Glycerolipid metabolism_Homo sapiens_hsa005610.63551868
99Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.62068244
100RNA degradation_Homo sapiens_hsa030180.60919231
101Alzheimers disease_Homo sapiens_hsa050100.58652866
102Pentose phosphate pathway_Homo sapiens_hsa000300.58591707
103Insulin secretion_Homo sapiens_hsa049110.57798307
104Glutathione metabolism_Homo sapiens_hsa004800.57051548
105Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.56590587
106Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.53388303
107Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.52517702
108Measles_Homo sapiens_hsa051620.51649946
109Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.50958630
110Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.48507412
111TNF signaling pathway_Homo sapiens_hsa046680.48017728
112Glutamatergic synapse_Homo sapiens_hsa047240.47592190
113Mineral absorption_Homo sapiens_hsa049780.46291740
114Huntingtons disease_Homo sapiens_hsa050160.45018074
115Chemokine signaling pathway_Homo sapiens_hsa040620.44648995
116Metabolic pathways_Homo sapiens_hsa011000.42492476
117Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.42438447
118Arachidonic acid metabolism_Homo sapiens_hsa005900.42341812
119Sulfur relay system_Homo sapiens_hsa041220.40341804
120T cell receptor signaling pathway_Homo sapiens_hsa046600.40224078
121GABAergic synapse_Homo sapiens_hsa047270.39961800
122Fatty acid biosynthesis_Homo sapiens_hsa000610.39761149
123Long-term depression_Homo sapiens_hsa047300.39756974
124Glycerophospholipid metabolism_Homo sapiens_hsa005640.39450623
125Calcium signaling pathway_Homo sapiens_hsa040200.36550193
126Ether lipid metabolism_Homo sapiens_hsa005650.31404735
127Fructose and mannose metabolism_Homo sapiens_hsa000510.28538610
128Galactose metabolism_Homo sapiens_hsa000520.22825621
129Prion diseases_Homo sapiens_hsa050200.21076707
130RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.19412352
131Ovarian steroidogenesis_Homo sapiens_hsa049130.15990778
132Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.15524396
133Adipocytokine signaling pathway_Homo sapiens_hsa049200.15206780
134Regulation of autophagy_Homo sapiens_hsa041400.14922511
135Insulin resistance_Homo sapiens_hsa049310.14876790
136NF-kappa B signaling pathway_Homo sapiens_hsa040640.13415813
137Intestinal immune network for IgA production_Homo sapiens_hsa046720.12965632
138Sphingolipid metabolism_Homo sapiens_hsa006000.12408599
139Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.09732343
140Toll-like receptor signaling pathway_Homo sapiens_hsa046200.08088506
141African trypanosomiasis_Homo sapiens_hsa051430.07082407
142Legionellosis_Homo sapiens_hsa051340.06132346
143Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.05627037
144Other glycan degradation_Homo sapiens_hsa005110.05296762
145Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.05143655
146Pertussis_Homo sapiens_hsa051330.03279703
147Glucagon signaling pathway_Homo sapiens_hsa049220.03117984
148Graft-versus-host disease_Homo sapiens_hsa053320.03019658
149Hepatitis C_Homo sapiens_hsa051600.01417761
150Malaria_Homo sapiens_hsa051440.00946044
151Asthma_Homo sapiens_hsa053100.00807744
152Amoebiasis_Homo sapiens_hsa05146-0.0241755
153Phagosome_Homo sapiens_hsa04145-0.0150047
154Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.0133729

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