CRYAA

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: Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1response to muscle activity (GO:0014850)9.77517554
2* visual perception (GO:0007601)9.43637996
3* sensory perception of light stimulus (GO:0050953)9.32358972
4L-phenylalanine catabolic process (GO:0006559)8.43026546
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)8.43026546
6camera-type eye development (GO:0043010)8.37949224
7regulation of fibrinolysis (GO:0051917)8.25786647
8negative regulation of fibrinolysis (GO:0051918)8.24020308
9L-phenylalanine metabolic process (GO:0006558)7.78144282
10erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.78144282
11cytolysis (GO:0019835)7.68273665
12peptidyl-glutamic acid carboxylation (GO:0017187)7.52137081
13protein carboxylation (GO:0018214)7.52137081
14histone H3-K9 demethylation (GO:0033169)7.45404858
15muscle cell cellular homeostasis (GO:0046716)7.34556193
16regulation of protein activation cascade (GO:2000257)7.22624267
17regulation of complement activation (GO:0030449)6.82848766
18eye development (GO:0001654)6.77162496
19complement activation, alternative pathway (GO:0006957)6.73196631
20cellular response to osmotic stress (GO:0071470)6.51863679
21bile acid and bile salt transport (GO:0015721)6.44582429
22glyoxylate metabolic process (GO:0046487)6.39806109
23blood coagulation, intrinsic pathway (GO:0007597)6.36565425
24regulation of protein sumoylation (GO:0033233)6.35304152
25triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.17773418
26fibrinolysis (GO:0042730)6.01765335
27negative regulation of sterol transport (GO:0032372)5.96538853
28negative regulation of cholesterol transport (GO:0032375)5.96538853
29myofibril assembly (GO:0030239)5.84786181
30urea metabolic process (GO:0019627)5.75397599
31epoxygenase P450 pathway (GO:0019373)5.74507981
32drug catabolic process (GO:0042737)5.70352953
33regulation of plasminogen activation (GO:0010755)5.70282429
34plasma lipoprotein particle remodeling (GO:0034369)5.68838655
35protein-lipid complex remodeling (GO:0034368)5.68838655
36macromolecular complex remodeling (GO:0034367)5.68838655
37exogenous drug catabolic process (GO:0042738)5.62946788
38very-low-density lipoprotein particle assembly (GO:0034379)5.53066105
39regulation of cholesterol esterification (GO:0010872)5.29575409
40cholesterol efflux (GO:0033344)5.27586519
41serine family amino acid catabolic process (GO:0009071)5.27256592
42aromatic amino acid family catabolic process (GO:0009074)5.26871260
43urea cycle (GO:0000050)5.26244273
44nitrogen cycle metabolic process (GO:0071941)5.20022886
45bile acid biosynthetic process (GO:0006699)5.19691993
46ethanol oxidation (GO:0006069)5.18196153
47intestinal cholesterol absorption (GO:0030299)5.18056190
48sensory organ development (GO:0007423)5.16174255
49high-density lipoprotein particle remodeling (GO:0034375)5.05589487
50plasma lipoprotein particle assembly (GO:0034377)5.04963533
51omega-hydroxylase P450 pathway (GO:0097267)5.04873693
52regulation of triglyceride catabolic process (GO:0010896)5.00403800
53positive regulation of lipoprotein lipase activity (GO:0051006)4.97547958
54positive regulation of triglyceride lipase activity (GO:0061365)4.97547958
55tyrosine metabolic process (GO:0006570)4.93083147
56cellular glucuronidation (GO:0052695)4.75315624
57positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)4.75102275
58low-density lipoprotein particle remodeling (GO:0034374)4.71880832
59acylglycerol homeostasis (GO:0055090)4.70703538
60triglyceride homeostasis (GO:0070328)4.70703538
61bile acid metabolic process (GO:0008206)4.69147062
62phospholipid efflux (GO:0033700)4.67044461
63negative regulation of blood coagulation (GO:0030195)4.66890390
64negative regulation of hemostasis (GO:1900047)4.66890390
65plasma lipoprotein particle organization (GO:0071827)4.64559241
66reverse cholesterol transport (GO:0043691)4.56360725
67negative regulation of protein activation cascade (GO:2000258)4.53857886
68insulin-like growth factor receptor signaling pathway (GO:0048009)4.52523450
69uronic acid metabolic process (GO:0006063)4.49823224
70glucuronate metabolic process (GO:0019585)4.49823224
71response to salt stress (GO:0009651)4.49502194
72protein activation cascade (GO:0072376)4.48942260
73drug metabolic process (GO:0017144)4.48880861
74plasma lipoprotein particle clearance (GO:0034381)4.48125767
75protein-lipid complex assembly (GO:0065005)4.47410842
76glutamate metabolic process (GO:0006536)4.40863665
77protein-lipid complex subunit organization (GO:0071825)4.35615609
78* sensory perception (GO:0007600)4.35020174
79acute-phase response (GO:0006953)4.34441318
80glycine metabolic process (GO:0006544)4.27548746
81positive regulation of blood coagulation (GO:0030194)4.27329645
82positive regulation of hemostasis (GO:1900048)4.27329645
83negative regulation of homotypic cell-cell adhesion (GO:0034111)4.27273059
84ethanol metabolic process (GO:0006067)4.25626253
85negative regulation of coagulation (GO:0050819)4.24792081
86sarcomere organization (GO:0045214)4.21524795
87proline metabolic process (GO:0006560)4.18467644
88negative regulation of wound healing (GO:0061045)4.16532985
89oxidative demethylation (GO:0070989)4.16481567
90regulation of apoptotic cell clearance (GO:2000425)4.14629950
91imidazole-containing compound metabolic process (GO:0052803)4.12909954
92phenylpropanoid metabolic process (GO:0009698)4.08955387
93regulation of humoral immune response (GO:0002920)4.08331083
94negative regulation of lipase activity (GO:0060192)4.07649031
95negative regulation of complement activation (GO:0045916)4.07591755
96complement activation, classical pathway (GO:0006958)4.04455955
97positive regulation of fatty acid biosynthetic process (GO:0045723)4.01576179
98lens development in camera-type eye (GO:0002088)35.6349038
99positive regulation of coagulation (GO:0050820)3.92653788
100amino-acid betaine metabolic process (GO:0006577)3.85178645
101complement activation (GO:0006956)3.84357449
102arginine metabolic process (GO:0006525)3.78765338
103alpha-amino acid catabolic process (GO:1901606)3.75828879
104cholesterol homeostasis (GO:0042632)3.71488696
105serine family amino acid metabolic process (GO:0009069)3.69003673
106regulation of myoblast differentiation (GO:0045661)3.66988619
107positive regulation of dendritic spine morphogenesis (GO:0061003)3.66562407
108sterol homeostasis (GO:0055092)3.65961347
109alkaloid metabolic process (GO:0009820)3.63455089
110response to mercury ion (GO:0046689)3.60384430
111lipoprotein metabolic process (GO:0042157)3.54333592
112S-adenosylmethionine metabolic process (GO:0046500)3.50031687
113positive regulation of lipid catabolic process (GO:0050996)3.47402890
114protein homotrimerization (GO:0070207)3.43557790
115drug transmembrane transport (GO:0006855)3.42191131
116flavonoid metabolic process (GO:0009812)3.42038302
117lung epithelium development (GO:0060428)3.41102888
118regulation of Rac protein signal transduction (GO:0035020)3.38691036
119aromatic amino acid family metabolic process (GO:0009072)3.37813400
120fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.37772445
121acute inflammatory response (GO:0002526)3.36208713
122cysteine metabolic process (GO:0006534)3.35728311
123regulation of lipoprotein particle clearance (GO:0010984)3.33696888
124water transport (GO:0006833)3.25673030
125regulation of platelet aggregation (GO:0090330)3.16057568
126lens fiber cell development (GO:0070307)25.3369549
127lens fiber cell differentiation (GO:0070306)20.2319624
128positive regulation of wound healing (GO:0090303)2.99755337
129positive regulation of calcium ion transport into cytosol (GO:0010524)2.97095391
130regulation of skeletal muscle fiber development (GO:0048742)2.85973576
131fluid transport (GO:0042044)2.80328187
132intermediate filament cytoskeleton organization (GO:0045104)2.79262325
133cellular response to calcium ion (GO:0071277)2.74991576
134mating behavior (GO:0007617)2.68972643
135histone lysine demethylation (GO:0070076)2.68915397
136intermediate filament-based process (GO:0045103)2.68215490
137dopaminergic neuron differentiation (GO:0071542)2.60603903
138cerebellar granule cell differentiation (GO:0021707)2.56312744
139response to activity (GO:0014823)2.53302548
140rhodopsin mediated signaling pathway (GO:0016056)2.52292764
141histone demethylation (GO:0016577)2.51055210
142regulation of rhodopsin mediated signaling pathway (GO:0022400)2.48995591
143activation of JUN kinase activity (GO:0007257)2.44079552
144respiratory tube development (GO:0030323)2.39406719
145skeletal muscle organ development (GO:0060538)2.35694055
146negative regulation of platelet activation (GO:0010544)2.35258817
147epithelial cell development (GO:0002064)2.34838990
148negative regulation of cell size (GO:0045792)2.32579148
149lung-associated mesenchyme development (GO:0060484)2.28451446
150actomyosin structure organization (GO:0031032)2.27585383
151L-alpha-amino acid transmembrane transport (GO:1902475)2.24801146
152regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.23073360
153protein demethylation (GO:0006482)2.22660733
154protein dealkylation (GO:0008214)2.22660733
155collecting duct development (GO:0072044)2.16418158
156negative regulation of hormone metabolic process (GO:0032351)2.16169146
157negative regulation of hormone biosynthetic process (GO:0032353)2.16169146
158response to osmotic stress (GO:0006970)2.12526733
159positive regulation of dendritic spine development (GO:0060999)2.12033103
160regulation of myotube differentiation (GO:0010830)2.11583584
161regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.11226735
162cell-cell junction assembly (GO:0007043)2.08379089
163cellular response to prostaglandin stimulus (GO:0071379)2.07794329
164neuronal stem cell maintenance (GO:0097150)2.05381553
165diaphragm development (GO:0060539)2.05224597
166positive regulation of dendrite morphogenesis (GO:0050775)2.05129108
167basement membrane organization (GO:0071711)2.04441599
168dorsal/ventral axis specification (GO:0009950)2.03715059
169regulation of homotypic cell-cell adhesion (GO:0034110)2.01666181
170cytoskeletal anchoring at plasma membrane (GO:0007016)2.00203535
171lens morphogenesis in camera-type eye (GO:0002089)10.3404859
172prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060521.99904714
173protein localization to cell surface (GO:0034394)1.95659832
174apoptotic process involved in development (GO:1902742)1.93636397
175metanephric tubule development (GO:0072170)1.91440536
176metanephric nephron tubule development (GO:0072234)1.91440536
177photoreceptor cell development (GO:0042461)1.88898574
178apoptotic process involved in morphogenesis (GO:0060561)1.88749686
179positive regulation of calcium ion-dependent exocytosis (GO:0045956)1.88001785
180synaptic vesicle maturation (GO:0016188)1.87449275
181negative regulation of potassium ion transmembrane transport (GO:1901380)1.86354133
182carnitine shuttle (GO:0006853)1.85425520
183glutamate secretion (GO:0014047)1.84301309
184regulation of dendritic spine morphogenesis (GO:0061001)1.81345431
185positive regulation of developmental growth (GO:0048639)1.81191382
186regulation of bile acid biosynthetic process (GO:0070857)1.78331245
187positive regulation of synaptic transmission, dopaminergic (GO:0032226)1.78044386
188protein trimerization (GO:0070206)1.76975662
189regulation of short-term neuronal synaptic plasticity (GO:0048172)1.76906925
190regulation of inhibitory postsynaptic membrane potential (GO:0060080)1.75598077
191metanephric nephron epithelium development (GO:0072243)1.73174401
192cell maturation (GO:0048469)1.71671302
193synaptic vesicle docking involved in exocytosis (GO:0016081)1.70029899
194regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)1.69369245
195negative regulation of JUN kinase activity (GO:0043508)1.68761809
196retinal rod cell development (GO:0046548)1.67810110
197negative regulation of potassium ion transmembrane transporter activity (GO:1901017)1.67273108
198bone trabecula formation (GO:0060346)1.65326806

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse9.74230059
2RXR_22158963_ChIP-Seq_LIVER_Mouse7.01518536
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.90602958
4EGR1_23403033_ChIP-Seq_LIVER_Mouse5.67776852
5LXR_22158963_ChIP-Seq_LIVER_Mouse5.57451226
6GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse5.31374694
7ZNF652_21678463_ChIP-ChIP_ZR75-1_Human4.81799190
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.53850606
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.30074268
10NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.89299156
11CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.75009124
12CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.58143816
13IKZF1_21737484_ChIP-ChIP_HCT116_Human3.35461019
14EGR1_19032775_ChIP-ChIP_M12_Human2.97640117
15PCGF2_27294783_Chip-Seq_NPCs_Mouse2.90336712
16* HNF4A_19822575_ChIP-Seq_HepG2_Human2.80141792
17HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.65960044
18BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.60177930
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.54050167
20TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.23203173
21THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.15583094
22EZH2_18974828_ChIP-Seq_MESCs_Mouse2.09500440
23RNF2_18974828_ChIP-Seq_MESCs_Mouse2.09500440
24SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.06936070
25EZH2_22144423_ChIP-Seq_EOC_Human2.00738508
26ESR1_15608294_ChIP-ChIP_MCF-7_Human1.97370686
27SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.94246060
28JARID2_20064375_ChIP-Seq_MESCs_Mouse1.88435671
29SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.81417225
30NFE2_27457419_Chip-Seq_LIVER_Mouse1.75507556
31NANOG_16153702_ChIP-ChIP_HESCs_Human1.73691423
32TP63_17297297_ChIP-ChIP_HaCaT_Human1.66423586
33EED_16625203_ChIP-ChIP_MESCs_Mouse1.65754939
34RNF2_27304074_Chip-Seq_ESCs_Mouse1.65068329
35EGR1_19374776_ChIP-ChIP_THP-1_Human1.61519847
36ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.60065349
37SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.59745007
38SUZ12_27294783_Chip-Seq_NPCs_Mouse1.58790593
39WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.58453403
40GATA3_24758297_ChIP-Seq_MCF-7_Human1.56996681
41CDX2_19796622_ChIP-Seq_MESCs_Mouse1.55356988
42MTF2_20144788_ChIP-Seq_MESCs_Mouse1.53478596
43ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.50418002
44NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.47824622
45EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.44725412
46CTCF_27219007_Chip-Seq_Bcells_Human1.43470157
47JARID2_20075857_ChIP-Seq_MESCs_Mouse1.42991941
48EZH2_27294783_Chip-Seq_ESCs_Mouse1.41035691
49TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40614854
50SOX2_22085726_ChIP-Seq_NPCs_Mouse1.37961008
51EP300_21415370_ChIP-Seq_HL-1_Mouse1.36658758
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.35857421
53EZH2_27304074_Chip-Seq_ESCs_Mouse1.34671046
54TBX3_20139965_ChIP-Seq_MESCs_Mouse1.34437663
55EZH2_27294783_Chip-Seq_NPCs_Mouse1.34080844
56TBX3_20139965_ChIP-Seq_ESCs_Mouse1.34039369
57ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.33186362
58TRIM28_21343339_ChIP-Seq_HEK293_Human1.31851809
59MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.31657725
60ZFP281_18757296_ChIP-ChIP_E14_Mouse1.29282594
61LXR_22292898_ChIP-Seq_THP-1_Human1.27652635
62ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.27515368
63CTCF_18555785_Chip-Seq_ESCs_Mouse1.27272773
64RING1B_27294783_Chip-Seq_NPCs_Mouse1.26798846
65TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.24223879
66RXRA_24833708_ChIP-Seq_LIVER_Mouse1.23220998
67GATA1_22025678_ChIP-Seq_K562_Human1.22269507
68SMAD1_18555785_Chip-Seq_ESCs_Mouse1.19689974
69GATA4_25053715_ChIP-Seq_YYC3_Human1.19091844
70RUNX1_27457419_Chip-Seq_LIVER_Mouse1.18425731
71GATA1_19941827_ChIP-Seq_MEL86_Mouse1.17682810
72SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.16483334
73RARG_19884340_ChIP-ChIP_MEFs_Mouse1.16312087
74STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.13924324
75FOXA2_19822575_ChIP-Seq_HepG2_Human1.12963561
76* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.12914067
77TP53_20018659_ChIP-ChIP_R1E_Mouse1.12467113
78SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.11111322
79TCF4_18268006_ChIP-ChIP_LS174T_Human1.10741364
80CDX2_20551321_ChIP-Seq_CACO-2_Human1.10709162
81SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.10175126
82PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.09871996
83RING1B_27294783_Chip-Seq_ESCs_Mouse1.09237634
84TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.09065899
85ZNF263_19887448_ChIP-Seq_K562_Human1.06888983
86ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05268325
87PU1_27457419_Chip-Seq_LIVER_Mouse1.04385422
88ESR2_21235772_ChIP-Seq_MCF-7_Human1.03931023
89FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.03335973
90HIF1A_21447827_ChIP-Seq_MCF-7_Human1.02989686
91VDR_22108803_ChIP-Seq_LS180_Human1.01513492
92SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.01095308
93NR3C1_23031785_ChIP-Seq_PC12_Mouse1.00205222
94SALL4_22934838_ChIP-ChIP_CD34+_Human0.99800070
95HTT_18923047_ChIP-ChIP_STHdh_Human0.99318827
96PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.99193367
97SMC3_22415368_ChIP-Seq_MEFs_Mouse0.98881154
98NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.97858304
99ZNF274_21170338_ChIP-Seq_K562_Hela0.97760593
100EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.97608561
101EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.97260309
102GATA2_21666600_ChIP-Seq_HMVEC_Human0.95847228
103PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.95179064
104CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.94017810
105SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.93663772
106P53_22127205_ChIP-Seq_FIBROBLAST_Human0.93308849
107CLOCK_20551151_ChIP-Seq_293T_Human0.93190487
108KDM2B_26808549_Chip-Seq_JURKAT_Human0.92433447
109ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.92413259
110PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.92291944
111GATA6_25053715_ChIP-Seq_YYC3_Human0.90989457
112* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.89926635
113FOXO3_23340844_ChIP-Seq_DLD1_Human0.89705035
114SALL4_18804426_ChIP-ChIP_XEN_Mouse0.88447632
115* KDM2B_26808549_Chip-Seq_K562_Human0.87863902
116POU5F1_16518401_ChIP-PET_MESCs_Mouse0.87028729
117TCF7_22412390_ChIP-Seq_EML_Mouse0.86988423
118* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.86826779
119FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.86322153
120IGF1R_20145208_ChIP-Seq_DFB_Human0.85460587
121* SUZ12_27294783_Chip-Seq_ESCs_Mouse0.84509990
122RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.83271384
123KAP1_22055183_ChIP-Seq_ESCs_Mouse0.83076980
124SOX2_27498859_Chip-Seq_STOMACH_Mouse0.82322962
125TCF3_18692474_ChIP-Seq_MEFs_Mouse0.81621315
126CRX_20693478_ChIP-Seq_RETINA_Mouse0.81297005
127OCT4_21477851_ChIP-Seq_ESCs_Mouse0.80787223
128HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.80052254
129CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.79909619
130P53_22387025_ChIP-Seq_ESCs_Mouse0.79757619
131RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.78785712
132NR3C1_21868756_ChIP-Seq_MCF10A_Human0.78284863
133DNAJC2_21179169_ChIP-ChIP_NT2_Human0.77100006
134* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.76945557
135* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.76937418
136NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.76469532
137POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.76209325
138CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.75935913
139TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.75840469
140RARA_24833708_ChIP-Seq_LIVER_Mouse0.75603140
141SOX2_18555785_Chip-Seq_ESCs_Mouse0.75297085
142ERG_21242973_ChIP-ChIP_JURKAT_Human0.74519976
143ESR1_20079471_ChIP-ChIP_T-47D_Human0.74037801
144AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.73576971
145RAC3_21632823_ChIP-Seq_H3396_Human0.73139939
146RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.72576491
147SOX2_21211035_ChIP-Seq_LN229_Human0.71716306
148NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.67878562
149* SMC4_20622854_ChIP-Seq_HELA_Human0.67773836
150SRY_22984422_ChIP-ChIP_TESTIS_Rat0.66587754
151PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.66210380
152* NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.65603732
153CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.65343709
154CEBPB_22108803_ChIP-Seq_LS180_Human0.64347695
155JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.63716738
156STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.63708033
157SOX2_20726797_ChIP-Seq_SW620_Human0.62432124
158RAD21_21589869_ChIP-Seq_MESCs_Mouse0.62182450
159CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.61537751
160FOXA1_25552417_ChIP-Seq_VCAP_Human0.61222911
161TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.60686216
162* CSB_26484114_Chip-Seq_FIBROBLAST_Human0.60530604
163GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.60041808
164STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.59645358
165ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.59114038
166NFIB_24661679_ChIP-Seq_LUNG_Mouse0.58288162
167FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.57040483
168RARB_24833708_ChIP-Seq_LIVER_Mouse0.56836631
169PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.56693352
170EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.55835358
171AR_21909140_ChIP-Seq_LNCAP_Human0.55484871
172GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.54337767
173MYC_19915707_ChIP-ChIP_AK7_Human0.52581747
174GATA1_19941827_ChIP-Seq_MEL_Mouse0.50999950
175ESRRB_18555785_Chip-Seq_ESCs_Mouse0.50679273
176E2F1_20622854_ChIP-Seq_HELA_Human0.49414259
177SOX11_22085726_ChIP-Seq_ESNs_Mouse0.48957138
178E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.48306318
179EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.46894809
180SPI1_20517297_ChIP-Seq_HL60_Human0.46775469

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005193_abnormal_anterior_eye8.70449170
2MP0005365_abnormal_bile_salt5.90772948
3MP0005253_abnormal_eye_physiology5.77201829
4MP0003195_calcinosis5.42316871
5MP0008875_abnormal_xenobiotic_pharmacok5.01654416
6MP0001286_abnormal_eye_development3.85235316
7MP0003868_abnormal_feces_composition3.79786793
8MP0005197_abnormal_uvea_morphology3.75703766
9MP0001666_abnormal_nutrient_absorption3.74065940
10MP0002092_abnormal_eye_morphology3.66692158
11MP0000749_muscle_degeneration3.62631742
12MP0005391_vision/eye_phenotype3.55639153
13MP0002138_abnormal_hepatobiliary_system3.29013177
14MP0010329_abnormal_lipoprotein_level3.24268465
15MP0003941_abnormal_skin_development3.09370072
16MP0002090_abnormal_vision2.81545062
17MP0009697_abnormal_copulation2.67189066
18MP0005332_abnormal_amino_acid2.21565996
19MP0005551_abnormal_eye_electrophysiolog2.20248717
20MP0001346_abnormal_lacrimal_gland2.19043179
21MP0003122_maternal_imprinting2.03066406
22* MP0002697_abnormal_eye_size13.1352404
23MP0009840_abnormal_foam_cell1.94886317
24MP0003806_abnormal_nucleotide_metabolis1.93497119
25MP0002638_abnormal_pupillary_reflex1.90930865
26MP0002876_abnormal_thyroid_physiology1.81015638
27MP0000609_abnormal_liver_physiology1.80839589
28MP0003011_delayed_dark_adaptation1.72202836
29MP0005195_abnormal_posterior_eye1.70616263
30MP0002118_abnormal_lipid_homeostasis1.69023025
31MP0004019_abnormal_vitamin_homeostasis1.65340337
32MP0002108_abnormal_muscle_morphology1.62776231
33MP0005408_hypopigmentation1.54542102
34MP0004272_abnormal_basement_membrane1.49881012
35MP0005451_abnormal_body_composition1.47718458
36MP0002269_muscular_atrophy1.46897504
37MP0001764_abnormal_homeostasis1.45675036
38MP0000566_synostosis1.44568682
39MP0005330_cardiomyopathy1.44304005
40MP0003191_abnormal_cellular_cholesterol1.43703189
41MP0010368_abnormal_lymphatic_system1.29648721
42MP0002132_abnormal_respiratory_system1.17912890
43MP0005058_abnormal_lysosome_morphology1.16539461
44MP0000598_abnormal_liver_morphology1.11406385
45MP0001299_abnormal_eye_distance/1.06082203
46MP0003172_abnormal_lysosome_physiology1.03992881
47MP0006072_abnormal_retinal_apoptosis1.02816301
48MP0003705_abnormal_hypodermis_morpholog1.02325594
49MP0001661_extended_life_span1.01607976
50MP0002735_abnormal_chemical_nociception0.98659180
51MP0000604_amyloidosis0.97802434
52MP0009643_abnormal_urine_homeostasis0.96594682
53MP0002139_abnormal_hepatobiliary_system0.93739810
54MP0005377_hearing/vestibular/ear_phenot0.92058450
55MP0003878_abnormal_ear_physiology0.92058450
56MP0005636_abnormal_mineral_homeostasis0.90475040
57MP0001324_abnormal_eye_pigmentation0.89390773
58MP0005584_abnormal_enzyme/coenzyme_acti0.87273202
59MP0004859_abnormal_synaptic_plasticity0.86430554
60MP0002653_abnormal_ependyma_morphology0.84437141
61MP0009642_abnormal_blood_homeostasis0.83463193
62MP0001340_abnormal_eyelid_morphology0.82882634
63MP0005670_abnormal_white_adipose0.76675152
64MP0003879_abnormal_hair_cell0.75524421
65MP0006292_abnormal_olfactory_placode0.75080098
66MP0004087_abnormal_muscle_fiber0.73467121
67MP0005319_abnormal_enzyme/_coenzyme0.67342003
68MP0004885_abnormal_endolymph0.65588523
69MP0005395_other_phenotype0.63801394
70MP0005187_abnormal_penis_morphology0.62839363
71MP0005464_abnormal_platelet_physiology0.62552503
72MP0005369_muscle_phenotype0.62111060
73MP0008469_abnormal_protein_level0.61842892
74MP0003252_abnormal_bile_duct0.61628935
75MP0005376_homeostasis/metabolism_phenot0.61211549
76MP0002971_abnormal_brown_adipose0.60296811
77MP0003123_paternal_imprinting0.59885672
78MP0000759_abnormal_skeletal_muscle0.59744267
79MP0002734_abnormal_mechanical_nocicepti0.59525883
80MP0009763_increased_sensitivity_to0.58775022
81MP0003186_abnormal_redox_activity0.56178770
82MP0003638_abnormal_response/metabolism_0.56129438
83MP0002168_other_aberrant_phenotype0.56013213
84MP0002078_abnormal_glucose_homeostasis0.55981389
85MP0005167_abnormal_blood-brain_barrier0.55298072
86MP0003635_abnormal_synaptic_transmissio0.54576566
87MP0004270_analgesia0.54422706
88MP0000049_abnormal_middle_ear0.54178670
89MP0005423_abnormal_somatic_nervous0.51369750
90MP0000639_abnormal_adrenal_gland0.51033587
91MP0002282_abnormal_trachea_morphology0.50531885
92MP0009780_abnormal_chondrocyte_physiolo0.50079014
93MP0001915_intracranial_hemorrhage0.49808440
94MP0005248_abnormal_Harderian_gland0.48757888
95MP0001905_abnormal_dopamine_level0.47832857
96MP0001968_abnormal_touch/_nociception0.47017038
97MP0008872_abnormal_physiological_respon0.46969233
98MP0005084_abnormal_gallbladder_morpholo0.46292972
99MP0005409_darkened_coat_color0.45939225
100MP0002229_neurodegeneration0.45586832
101MP0005257_abnormal_intraocular_pressure0.45544017
102MP0002089_abnormal_postnatal_growth/wei0.45419460
103MP0003787_abnormal_imprinting0.44390557
104MP0000537_abnormal_urethra_morphology0.44308586
105MP0009053_abnormal_anal_canal0.43910358
106MP0003690_abnormal_glial_cell0.41759831
107MP0000747_muscle_weakness0.40985098
108MP0001879_abnormal_lymphatic_vessel0.40685604
109MP0001756_abnormal_urination0.40066894
110MP0001502_abnormal_circadian_rhythm0.39927416
111MP0002736_abnormal_nociception_after0.39794436
112MP0003315_abnormal_perineum_morphology0.39419675
113MP0002882_abnormal_neuron_morphology0.39287181
114MP0005220_abnormal_exocrine_pancreas0.38687106
115MP0005164_abnormal_response_to0.37516310
116MP0003329_amyloid_beta_deposits0.37087745
117MP0002063_abnormal_learning/memory/cond0.36932847
118MP0005448_abnormal_energy_balance0.36911615
119MP0006054_spinal_hemorrhage0.36856130
120MP0003567_abnormal_fetal_cardiomyocyte0.36636849
121MP0000751_myopathy0.36100778
122MP0004883_abnormal_blood_vessel0.35938914
123MP0000428_abnormal_craniofacial_morphol0.35365705
124MP0003953_abnormal_hormone_level0.35334599
125MP0005360_urolithiasis0.34779821
126MP0004233_abnormal_muscle_weight0.33952434
127MP0005085_abnormal_gallbladder_physiolo0.33901939
128MP0004811_abnormal_neuron_physiology0.33843005
129MP0004782_abnormal_surfactant_physiolog0.33436559
130MP0001270_distended_abdomen0.33089226
131MP0002064_seizures0.32753474
132MP0000249_abnormal_blood_vessel0.32729387
133MP0003115_abnormal_respiratory_system0.32488744
134MP0003121_genomic_imprinting0.31871239
135MP0003942_abnormal_urinary_system0.31684114
136MP0003566_abnormal_cell_adhesion0.31346768
137MP0001943_abnormal_respiration0.31101050
138MP0002938_white_spotting0.30643758
139MP0000465_gastrointestinal_hemorrhage0.30298284
140MP0002152_abnormal_brain_morphology0.30219520
141MP0000920_abnormal_myelination0.30214063
142MP0005334_abnormal_fat_pad0.30140618
143MP0003632_abnormal_nervous_system0.30111578
144MP0002249_abnormal_larynx_morphology0.29895125
145MP0003718_maternal_effect0.29880500
146MP0000955_abnormal_spinal_cord0.29479188
147MP0003656_abnormal_erythrocyte_physiolo0.29286438
148MP0002136_abnormal_kidney_physiology0.28475234
149MP0003183_abnormal_peptide_metabolism0.27927062
150MP0005535_abnormal_body_temperature0.27860659
151MP0009115_abnormal_fat_cell0.27703732
152MP0009764_decreased_sensitivity_to0.26829505
153MP0008874_decreased_physiological_sensi0.26740580
154MP0002925_abnormal_cardiovascular_devel0.26666298
155MP0003075_altered_response_to0.26542993
156MP0002752_abnormal_somatic_nervous0.26406769
157MP0004084_abnormal_cardiac_muscle0.26400874
158MP0002177_abnormal_outer_ear0.26165052
159MP0009672_abnormal_birth_weight0.26157787
160MP0001958_emphysema0.25155638
161MP0010234_abnormal_vibrissa_follicle0.24860171
162MP0004134_abnormal_chest_morphology0.24729258
163MP0005623_abnormal_meninges_morphology0.24250042
164MP0002733_abnormal_thermal_nociception0.24112497
165MP0004197_abnormal_fetal_growth/weight/0.23877803
166MP0001486_abnormal_startle_reflex0.23296426
167MP0002272_abnormal_nervous_system0.23203850
168MP0001614_abnormal_blood_vessel0.22715562
169MP0002184_abnormal_innervation0.22443819
170MP0009250_abnormal_appendicular_skeleto0.21356360
171MP0004858_abnormal_nervous_system0.21351636
172MP0003634_abnormal_glial_cell0.20705554
173MP0000778_abnormal_nervous_system0.20648181
174MP0001784_abnormal_fluid_regulation0.20272718
175MP0003959_abnormal_lean_body0.19238345
176MP0002909_abnormal_adrenal_gland0.19006892
177MP0004145_abnormal_muscle_electrophysio0.18225460
178MP0002066_abnormal_motor_capabilities/c0.17894443

Predicted human phenotypes

RankGene SetZ-score
1Prolonged partial thromboplastin time (HP:0003645)9.11288995
2Abnormality of monocarboxylic acid metabolism (HP:0010996)8.90232973
3Abnormality of aromatic amino acid family metabolism (HP:0004338)8.09494711
4Hypobetalipoproteinemia (HP:0003563)8.07696726
5Congenital cataract (HP:0000519)7.92601026
6Complement deficiency (HP:0004431)7.03750730
7Joint hemorrhage (HP:0005261)6.61783212
8* Corneal dystrophy (HP:0001131)6.38837916
9Anterior segment dysgenesis (HP:0007700)5.87162716
10Abnormality of complement system (HP:0005339)5.44337413
11Xanthomatosis (HP:0000991)5.15866668
12Glomerulonephritis (HP:0000099)5.10341775
13Systemic lupus erythematosus (HP:0002725)5.10103146
14Hyperlipoproteinemia (HP:0010980)5.00190750
15Intrahepatic cholestasis (HP:0001406)4.86939473
16Abnormality of the common coagulation pathway (HP:0010990)4.79976014
17Hypolipoproteinemia (HP:0010981)4.76595011
18Conjugated hyperbilirubinemia (HP:0002908)4.55408836
19Polar cataract (HP:0010696)4.54720314
20Clumsiness (HP:0002312)3.91484350
21* Amblyopia (HP:0000646)3.90768213
22Hypercholesterolemia (HP:0003124)3.90390874
23Hemorrhage of the eye (HP:0011885)3.85855902
24Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.80957282
25Hypoalphalipoproteinemia (HP:0003233)3.77798061
26Menorrhagia (HP:0000132)3.55369339
27Abnormality of pyrimidine metabolism (HP:0004353)3.47593202
28Vascular calcification (HP:0004934)3.31785218
29Spontaneous abortion (HP:0005268)3.31640383
30Abnormality of the intrinsic pathway (HP:0010989)3.27780178
31Fat malabsorption (HP:0002630)3.27229948
32* Microcornea (HP:0000482)3.26329180
33Epidermoid cyst (HP:0200040)3.24612529
34Abnormality of glutamine family amino acid metabolism (HP:0010902)3.18512411
35Nephritis (HP:0000123)3.07341858
36Abnormal gallbladder physiology (HP:0012438)3.00731851
37Cholecystitis (HP:0001082)3.00731851
38Nuclear cataract (HP:0100018)27.4619707
39Zonular cataract (HP:0010920)24.8690202
40Purpura (HP:0000979)2.94819122
41Cardiovascular calcification (HP:0011915)2.92489692
42Mitral stenosis (HP:0001718)2.92482773
43Generalized aminoaciduria (HP:0002909)2.91194346
44Hyperglycinemia (HP:0002154)2.90108422
45Arthropathy (HP:0003040)2.83033853
46Recurrent gram-negative bacterial infections (HP:0005420)2.76890007
47Eosinophilia (HP:0001880)2.74976082
48Hyperammonemia (HP:0001987)2.67952262
49Osteomalacia (HP:0002749)2.66515817
50Gingival bleeding (HP:0000225)2.65816945
51Rickets (HP:0002748)2.65482401
52Hepatocellular carcinoma (HP:0001402)2.63119007
53Abnormality of methionine metabolism (HP:0010901)2.58140754
54* Iris coloboma (HP:0000612)2.55118116
55Abnormality of serine family amino acid metabolism (HP:0010894)2.54596731
56Abnormality of glycine metabolism (HP:0010895)2.54596731
57Abnormality of the anterior chamber (HP:0000593)2.47628208
58Abnormality of the Achilles tendon (HP:0005109)2.44265683
59Reduced antithrombin III activity (HP:0001976)2.41658038
60Hypophosphatemic rickets (HP:0004912)2.40853907
61Acanthocytosis (HP:0001927)2.40822626
62Sclerocornea (HP:0000647)2.38322497
63Posterior subcapsular cataract (HP:0007787)2.37792248
64Myocardial infarction (HP:0001658)2.37659576
65Hyperglycinuria (HP:0003108)2.34237840
66* Opacification of the corneal stroma (HP:0007759)2.29821019
67Delayed CNS myelination (HP:0002188)2.28374907
68Thrombophlebitis (HP:0004418)2.24411018
69Pulmonary embolism (HP:0002204)2.21902981
70Proximal tubulopathy (HP:0000114)2.21129013
71Congenital primary aphakia (HP:0007707)2.18447713
72Granulocytopenia (HP:0001913)2.17627992
73Abnormality of nucleobase metabolism (HP:0010932)2.15649324
74Cholelithiasis (HP:0001081)2.13372707
75Abnormality of serum amino acid levels (HP:0003112)2.10542636
76Abnormality of carpal bone ossification (HP:0006257)2.10055938
77Proximal amyotrophy (HP:0007126)2.08482243
78Scapular winging (HP:0003691)2.07987634
79Steatorrhea (HP:0002570)2.06596891
80Abnormality of glycolysis (HP:0004366)2.03343221
81Deep venous thrombosis (HP:0002625)11.8425110
82Abnormal gallbladder morphology (HP:0012437)1.98886244
83Increased serum pyruvate (HP:0003542)1.97922233
84Abnormality of aspartate family amino acid metabolism (HP:0010899)1.97910190
85Abnormal tarsal ossification (HP:0008369)1.96976436
86Poikilocytosis (HP:0004447)1.92857051
87Bifid scrotum (HP:0000048)1.89732375
88Abnormality of eosinophils (HP:0001879)1.87630740
89Aplasia/Hypoplasia of the lens (HP:0008063)1.84077200
90Abnormality of proline metabolism (HP:0010907)1.83307422
91Hydroxyprolinuria (HP:0003080)1.83307422
92Abnormality of sulfur amino acid metabolism (HP:0004339)1.83081408
93Hyperbilirubinemia (HP:0002904)1.82552145
94Vaginal fistula (HP:0004320)1.82044529
95Pancreatic islet-cell hyperplasia (HP:0004510)1.81072386
96Facial shape deformation (HP:0011334)1.71759177
97Potter facies (HP:0002009)1.71759177
98Hyperphosphaturia (HP:0003109)1.71329218
99Broad alveolar ridges (HP:0000187)1.71292218
100Aplasia/Hypoplasia of the macula (HP:0008059)1.71177640
101Small epiphyses (HP:0010585)1.70711541
102Elevated alkaline phosphatase (HP:0003155)1.70520281
103Hypoglycemic coma (HP:0001325)1.69214577
104Gangrene (HP:0100758)1.68670322
105Abnormality of the lumbar spine (HP:0100712)1.66895889
106Gout (HP:0001997)1.65467560
107Glycosuria (HP:0003076)1.64916602
108Abnormality of urine glucose concentration (HP:0011016)1.64916602
109Abnormal enzyme/coenzyme activity (HP:0012379)1.64786003
110Abnormality of alkaline phosphatase activity (HP:0004379)1.64088432
111Reticulocytosis (HP:0001923)1.63782157
112Aplasia/Hypoplasia affecting the retina (HP:0008061)1.62598612
113Metabolic acidosis (HP:0001942)1.61421478
114Irritability (HP:0000737)1.60194409
115Neonatal respiratory distress (HP:0002643)1.57817947
116Abnormality of purine metabolism (HP:0004352)1.55175047
117Increased serum ferritin (HP:0003281)1.53873463
118Abnormal ossification of hand bones (HP:0005921)1.53203979
119Back pain (HP:0003418)1.53067151
120Abnormal hand bone ossification (HP:0010660)1.52263386
121Flat acetabular roof (HP:0003180)1.51769557
122Fair hair (HP:0002286)1.51249950
123Fetal akinesia sequence (HP:0001989)1.50690833
124Severe visual impairment (HP:0001141)1.47376461
125Popliteal pterygium (HP:0009756)1.43064510
126Long clavicles (HP:0000890)1.42945335
127Congenital stationary night blindness (HP:0007642)1.38560597
128Aplasia of the musculature (HP:0100854)1.36552260
129Subcapsular cataract (HP:0000523)1.30177855
130Hypoplastic nipples (HP:0002557)1.29913307
131Akinesia (HP:0002304)1.28515603
132Amniotic constriction ring (HP:0009775)1.27738707
133Abnormality of placental membranes (HP:0011409)1.27738707
134Difficulty walking (HP:0002355)1.26004148
135Abnormality of the shoulder girdle musculature (HP:0001435)1.23776747
136Leukocytosis (HP:0001974)1.21147713
137Central scotoma (HP:0000603)1.12384372
138Chorioretinal atrophy (HP:0000533)1.11450596
139Absent rod-and cone-mediated responses on ERG (HP:0007688)1.09392890
140Rib fusion (HP:0000902)1.06733310
141Abnormal rod and cone electroretinograms (HP:0008323)1.03725851
142Symphalangism affecting the phalanges of the hand (HP:0009773)1.03079368
143Fused cervical vertebrae (HP:0002949)1.01649680
144Vertebral clefting (HP:0008428)0.97033568
145Bony spicule pigmentary retinopathy (HP:0007737)0.95897547
146Scotoma (HP:0000575)0.94954254
147Abnormality of the labia majora (HP:0012881)0.93739196
148Chorioretinal coloboma (HP:0000567)0.88639439
149Pendular nystagmus (HP:0012043)0.80284454
150Exostoses (HP:0100777)0.79286487
151Aplasia/Hypoplasia involving the musculature (HP:0001460)0.76619988
152Abolished electroretinogram (ERG) (HP:0000550)0.73626438
153Pigmentary retinal degeneration (HP:0001146)0.72517973
154Lymphangioma (HP:0100764)0.72156842
155Decreased central vision (HP:0007663)0.72080472
156Camptodactyly of toe (HP:0001836)0.71045162
157Neoplasm of the heart (HP:0100544)0.71028163
158Pterygium (HP:0001059)0.70953780
159Abnormal number of incisors (HP:0011064)0.69904568
160Ependymoma (HP:0002888)0.68502715
161Photophobia (HP:0000613)0.68288859
162Malignant hyperthermia (HP:0002047)0.65817532
163Thin ribs (HP:0000883)0.64795829
164Hypoplastic heart (HP:0001961)0.61475679
165Muscle fiber splitting (HP:0003555)0.58312377
166Abnormality of macular pigmentation (HP:0008002)0.57879037
167Hyporeflexia of lower limbs (HP:0002600)0.57077745
168Macular degeneration (HP:0000608)0.56176665
169Aplasia/Hypoplasia of the nipples (HP:0006709)0.55786953
170Cystic hygroma (HP:0000476)0.55649670
171Pointed chin (HP:0000307)0.54627148
172Abnormality of the astrocytes (HP:0100707)0.53983075
173Astrocytoma (HP:0009592)0.53983075
174Diminished movement (HP:0002374)0.53968943
175Dislocated radial head (HP:0003083)0.53204402
176Hepatoblastoma (HP:0002884)0.52129368
177Hemiplegia (HP:0002301)0.52014846
178Increased corneal curvature (HP:0100692)0.51435864
179Keratoconus (HP:0000563)0.51435864
180Abnormality of the humeroradial joint (HP:0100744)0.50445395
181Split foot (HP:0001839)0.50144477
182* Autosomal dominant inheritance (HP:0000006)0.50137672
183Attenuation of retinal blood vessels (HP:0007843)0.49450801
184Hamartoma of the eye (HP:0010568)0.48933414
185Abnormality of the radial head (HP:0003995)0.48867175
186Visceral angiomatosis (HP:0100761)0.48505085
187Enlarged kidneys (HP:0000105)0.48256705
188Flexion contracture of toe (HP:0005830)0.47603896
189Joint contractures involving the joints of the feet (HP:0100492)0.47603896
190Broad nasal tip (HP:0000455)0.46349801
191Cone-rod dystrophy (HP:0000548)0.45773308
192Annular pancreas (HP:0001734)0.45735081
193Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.44755391
194Buphthalmos (HP:0000557)0.44391325
195Skin nodule (HP:0200036)0.44262433
196Type II diabetes mellitus (HP:0005978)0.44203990
197Hemangiomatosis (HP:0007461)0.44021563
198Hypoplastic pelvis (HP:0008839)0.43923899

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K68.15496114
2FGFR47.60061642
3BLK4.67266169
4FGFR34.35977111
5ERN13.65835510
6WNK43.10157965
7STK393.09318301
8NTRK12.72295455
9BCKDK2.69883507
10PIK3CA2.59295898
11FLT32.57483402
12MST42.51929756
13SIK12.48732791
14PKN22.32076190
15* SGK12.25176458
16TRIB32.10126388
17MAP3K102.09160060
18TYRO31.94231463
19DYRK1B1.92226777
20PNCK1.90633546
21IGF1R1.73484853
22PDGFRA1.73209748
23MET1.66472332
24LRRK21.57092748
25PRKAA21.55899248
26INSR1.51625921
27ERBB21.51222020
28ICK1.45859999
29MAPK111.39649916
30DDR21.38668862
31GRK11.37072589
32EPHB21.36824250
33WNK11.36281271
34* PRKG11.35197485
35* PRKCB1.30040904
36PRKACB1.25803244
37PAK61.24295941
38SCYL21.23924979
39RET1.23920185
40AKT31.23336960
41CAMK1G1.19442164
42PDPK11.19250492
43PTK61.14600746
44SMG11.13575629
45TESK21.13337913
46CDK61.11937111
47ZAP701.07021203
48IRAK31.05235867
49PKN11.05060416
50EPHA41.01996525
51TGFBR21.01521620
52SIK21.00879996
53CAMKK10.98631686
54PAK40.97427888
55EPHA30.94097435
56STK100.92662309
57WNK30.91797218
58ROCK20.89420372
59CDK70.85647522
60PTK20.85412629
61PRKACG0.84607020
62MAP2K40.83692834
63TYK20.83466693
64PRKCG0.83391506
65PRKCQ0.81337177
66EEF2K0.79190956
67PDK10.77798398
68* RPS6KA30.76951105
69PAK30.76575399
70LATS10.75179172
71PHKG10.74662278
72PHKG20.74662278
73PIM20.73825923
74PRKAA10.73428571
75SGK30.73154433
76SGK4940.71622134
77SGK2230.71622134
78MINK10.69265652
79SGK20.68318907
80MAP3K20.67361241
81EIF2AK10.64333015
82ILK0.64061172
83ROCK10.63490111
84RPS6KB10.61977039
85MAP3K50.61889558
86PRKCH0.61759879
87MAP2K30.60746551
88HIPK20.59936361
89MAPKAPK30.59334455
90CSF1R0.59262317
91RPS6KA20.59144031
92CSNK1D0.58195017
93FGFR10.57521339
94FGR0.57386322
95IRAK20.56938965
96BCR0.56496338
97ALK0.55138960
98CDK50.55035888
99CDC42BPA0.53170143
100CDK120.52851529
101MTOR0.52334931
102LATS20.51986954
103MAPKAPK50.49258081
104NTRK30.48508988
105MAP3K110.47698146
106UHMK10.46671872
107CSNK2A20.46298620
108ADRBK10.45772423
109MATK0.45320848
110MARK10.45210113
111CDK80.45124033
112EPHA20.44788999
113MAP3K30.43061657
114PDK20.41965443
115PRKACA0.40995675
116CDK40.40565023
117EGFR0.40298148
118RIPK10.40015622
119CSNK1E0.39263439
120GSK3A0.38335275
121CAMK1D0.38156251
122MAP3K90.37495127
123BRD40.36987579
124PDGFRB0.36885267
125MARK20.36742054
126PAK20.35384403
127PRKCA0.35092408
128BRSK10.34447571
129RPS6KA10.34444339
130CSNK2A10.34385409
131PLK20.34126856
132MAP3K10.33701116
133PTK2B0.33404242
134BMX0.32458263
135MAPK30.31150947
136FER0.31028334
137CSNK1A1L0.30543979
138KSR10.30447446
139NEK10.30086113
140FYN0.29828347
141* MAPK100.28661497
142MAP3K70.28515289
143TAOK30.28000339
144STK380.27990165
145CDK140.27877611
146MAP3K40.26204998
147NEK90.24866790
148STK160.24423306
149NLK0.24121008
150PRKD30.24104158
151CDK90.24082476
152PRKCZ0.24048149
153FGFR20.23565554
154SRC0.23477149
155CDK150.23313795
156STK110.22923317
157TTN0.22852873
158FES0.22068829
159AKT20.22068699
160KSR20.21751684

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047446.09300298
2Complement and coagulation cascades_Homo sapiens_hsa046104.28370430
3Caffeine metabolism_Homo sapiens_hsa002323.08344084
4Nitrogen metabolism_Homo sapiens_hsa009102.89958676
5Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.79664391
6Retinol metabolism_Homo sapiens_hsa008302.77711718
7Phenylalanine metabolism_Homo sapiens_hsa003602.71403093
8Pentose and glucuronate interconversions_Homo sapiens_hsa000402.60118138
9Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.51865886
10Steroid hormone biosynthesis_Homo sapiens_hsa001402.47389496
11Chemical carcinogenesis_Homo sapiens_hsa052042.38973319
12Tyrosine metabolism_Homo sapiens_hsa003502.23267183
13Drug metabolism - other enzymes_Homo sapiens_hsa009832.09038295
14Synaptic vesicle cycle_Homo sapiens_hsa047211.94663374
15Histidine metabolism_Homo sapiens_hsa003401.94574830
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.84316717
17Small cell lung cancer_Homo sapiens_hsa052221.83102221
18Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.79354469
19PPAR signaling pathway_Homo sapiens_hsa033201.75191605
20Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.72959627
21GABAergic synapse_Homo sapiens_hsa047271.72576613
22Central carbon metabolism in cancer_Homo sapiens_hsa052301.70657476
23Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.69533357
24Starch and sucrose metabolism_Homo sapiens_hsa005001.63742520
25Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.60967766
26Olfactory transduction_Homo sapiens_hsa047401.56429879
27Circadian entrainment_Homo sapiens_hsa047131.56190540
28Hedgehog signaling pathway_Homo sapiens_hsa043401.52966706
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.49203855
30mTOR signaling pathway_Homo sapiens_hsa041501.48695384
31Tryptophan metabolism_Homo sapiens_hsa003801.45801702
32Fat digestion and absorption_Homo sapiens_hsa049751.42673932
33Basal cell carcinoma_Homo sapiens_hsa052171.41928667
34Arginine biosynthesis_Homo sapiens_hsa002201.41533549
35Melanogenesis_Homo sapiens_hsa049161.38377585
36Adherens junction_Homo sapiens_hsa045201.36423161
37Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.36049976
38Peroxisome_Homo sapiens_hsa041461.34124507
39Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.28536761
40Cyanoamino acid metabolism_Homo sapiens_hsa004601.25996774
41Primary bile acid biosynthesis_Homo sapiens_hsa001201.23560082
42Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.19675750
43Linoleic acid metabolism_Homo sapiens_hsa005911.17543793
44Staphylococcus aureus infection_Homo sapiens_hsa051501.17205147
45Bile secretion_Homo sapiens_hsa049761.14159776
46Glutamatergic synapse_Homo sapiens_hsa047241.11877440
47Cholinergic synapse_Homo sapiens_hsa047251.10692660
48Glioma_Homo sapiens_hsa052141.10610939
49ECM-receptor interaction_Homo sapiens_hsa045121.10219017
50Pyruvate metabolism_Homo sapiens_hsa006201.08280597
51Insulin secretion_Homo sapiens_hsa049111.07363312
52Long-term potentiation_Homo sapiens_hsa047201.05567385
53Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.04970923
54Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.03790238
55Proteoglycans in cancer_Homo sapiens_hsa052051.03378449
56Vitamin B6 metabolism_Homo sapiens_hsa007501.01858406
57Insulin signaling pathway_Homo sapiens_hsa049101.01652543
58Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.00342301
59Amoebiasis_Homo sapiens_hsa051460.98366534
60Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.97561516
61Type II diabetes mellitus_Homo sapiens_hsa049300.97453101
62Glucagon signaling pathway_Homo sapiens_hsa049220.96598309
63Dopaminergic synapse_Homo sapiens_hsa047280.95828094
64Wnt signaling pathway_Homo sapiens_hsa043100.94434241
65Biosynthesis of amino acids_Homo sapiens_hsa012300.94046534
66Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.93701913
67beta-Alanine metabolism_Homo sapiens_hsa004100.93272361
68Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.91948551
69ABC transporters_Homo sapiens_hsa020100.91835471
70One carbon pool by folate_Homo sapiens_hsa006700.91742088
71Thyroid hormone signaling pathway_Homo sapiens_hsa049190.90866872
72Gastric acid secretion_Homo sapiens_hsa049710.89178620
73Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.88126750
74Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.87605858
75Longevity regulating pathway - mammal_Homo sapiens_hsa042110.87312320
76Protein digestion and absorption_Homo sapiens_hsa049740.86339151
77Dorso-ventral axis formation_Homo sapiens_hsa043200.85631342
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.84854861
79Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.84014125
80Tight junction_Homo sapiens_hsa045300.82909711
81Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.82851059
82Morphine addiction_Homo sapiens_hsa050320.82138917
83Axon guidance_Homo sapiens_hsa043600.81651312
84Phospholipase D signaling pathway_Homo sapiens_hsa040720.80914837
85Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.80455207
86Propanoate metabolism_Homo sapiens_hsa006400.80221845
87Renal cell carcinoma_Homo sapiens_hsa052110.80105897
88Hippo signaling pathway_Homo sapiens_hsa043900.80088831
89Dilated cardiomyopathy_Homo sapiens_hsa054140.79824584
90Oxytocin signaling pathway_Homo sapiens_hsa049210.79700703
91Gap junction_Homo sapiens_hsa045400.78663892
92Focal adhesion_Homo sapiens_hsa045100.77915872
93Adipocytokine signaling pathway_Homo sapiens_hsa049200.76834695
94Fatty acid degradation_Homo sapiens_hsa000710.76000540
95Sulfur relay system_Homo sapiens_hsa041220.75971695
96Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.74417908
97Vitamin digestion and absorption_Homo sapiens_hsa049770.74052933
98Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.73484398
99Other glycan degradation_Homo sapiens_hsa005110.73300912
100Insulin resistance_Homo sapiens_hsa049310.72142313
101Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.72063243
102Arachidonic acid metabolism_Homo sapiens_hsa005900.70593019
103Aldosterone synthesis and secretion_Homo sapiens_hsa049250.70380075
104Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.68543843
105Fructose and mannose metabolism_Homo sapiens_hsa000510.68511594
106Steroid biosynthesis_Homo sapiens_hsa001000.68329393
107AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.67150175
108Estrogen signaling pathway_Homo sapiens_hsa049150.66109451
109Salivary secretion_Homo sapiens_hsa049700.65587100
110Vibrio cholerae infection_Homo sapiens_hsa051100.65442883
111cGMP-PKG signaling pathway_Homo sapiens_hsa040220.65025945
112Pathways in cancer_Homo sapiens_hsa052000.63833184
113Renin secretion_Homo sapiens_hsa049240.63761943
114Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.63756658
115Nicotine addiction_Homo sapiens_hsa050330.63727811
116Cysteine and methionine metabolism_Homo sapiens_hsa002700.63194959
117Sulfur metabolism_Homo sapiens_hsa009200.63177006
118Glycosaminoglycan degradation_Homo sapiens_hsa005310.61303309
119Lysine degradation_Homo sapiens_hsa003100.60768998
120Cocaine addiction_Homo sapiens_hsa050300.59512326
121Amphetamine addiction_Homo sapiens_hsa050310.59255335
122Maturity onset diabetes of the young_Homo sapiens_hsa049500.58762423
123ErbB signaling pathway_Homo sapiens_hsa040120.58320235
124Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.56975017
125AMPK signaling pathway_Homo sapiens_hsa041520.56037697
126Long-term depression_Homo sapiens_hsa047300.54373578
1272-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.53059949
128Fatty acid biosynthesis_Homo sapiens_hsa000610.52788876
129Chronic myeloid leukemia_Homo sapiens_hsa052200.52475124
130Prion diseases_Homo sapiens_hsa050200.51344348
131Carbohydrate digestion and absorption_Homo sapiens_hsa049730.50814314
132Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.50429215
133Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.48560012
134Arginine and proline metabolism_Homo sapiens_hsa003300.48383391
135Fatty acid metabolism_Homo sapiens_hsa012120.47388367
136Rap1 signaling pathway_Homo sapiens_hsa040150.46316848
137Metabolic pathways_Homo sapiens_hsa011000.45617630
138Neurotrophin signaling pathway_Homo sapiens_hsa047220.45426768
139Cardiac muscle contraction_Homo sapiens_hsa042600.45244864
140Thyroid hormone synthesis_Homo sapiens_hsa049180.44230176
141Serotonergic synapse_Homo sapiens_hsa047260.43571749
142Butanoate metabolism_Homo sapiens_hsa006500.43479812
143Carbon metabolism_Homo sapiens_hsa012000.42207834
144Fatty acid elongation_Homo sapiens_hsa000620.40353783
145Glycerolipid metabolism_Homo sapiens_hsa005610.38136190
146Pentose phosphate pathway_Homo sapiens_hsa000300.36797313
147Galactose metabolism_Homo sapiens_hsa000520.34385188
148Pertussis_Homo sapiens_hsa051330.30912220
149Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.26376853
150Renin-angiotensin system_Homo sapiens_hsa046140.25191783
151N-Glycan biosynthesis_Homo sapiens_hsa005100.20183611
152Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.18056355
153Glutathione metabolism_Homo sapiens_hsa004800.16615316
154alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.15394555
155Sphingolipid metabolism_Homo sapiens_hsa006000.14154588
156Glycerophospholipid metabolism_Homo sapiens_hsa005640.03621596
157Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.03274253
158Selenocompound metabolism_Homo sapiens_hsa004500.01103483
159Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1852505
160Other types of O-glycan biosynthesis_Homo sapiens_hsa00514-0.1695130
161Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1074292
162Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563-0.1033303
163African trypanosomiasis_Homo sapiens_hsa05143-0.0783615
164Folate biosynthesis_Homo sapiens_hsa00790-0.0510996
165* Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0493694
166Mineral absorption_Homo sapiens_hsa04978-0.0119041

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